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just-prs-mcp: Conversational and Programmatic Polygenic Risk Scores

PyPI version Python 3.13+ Claude Plugin MCP BioContextAI Registry Core library Research use only Not medical advice

just-prs-mcp brings the just-prs bioinformatics toolbox into Claude, Cursor, Codex, and any other Model Context Protocol client. It exposes typed tools for searching 5,000+ published polygenic scoring models, normalizing VCF and consumer-array data, computing PRS, comparing results with reference populations, estimating absolute risk, and assessing result quality.

It is useful whether you are:

  • a bioinformatician adding reproducible PRS operations to an MCP-enabled research environment;
  • a researcher or analyst who wants to inspect models and evidence through a conversational interface;
  • a Claude or Cursor user who wants to analyze a local genome without writing a pipeline; or
  • a developer embedding PRS tools in an agent, application, or internal system.

The server runs locally by default, needs no API key, and does not upload your genome. The underlying scoring, catalog, and reference-panel logic remains in just-prs; this repository provides the MCP tools, Claude plugin, packaging, prompts, and guided interpretation workflows.

The server is published in the BioContextAI Registry, a community registry for agentic biomedical systems, where researchers can discover its scientific scope, supported features, and registry metadata.

See the evidence, not just a score

Trait-level PRS report showing model percentiles, match rates, quality, and a consensus reference curve

Instead of hiding uncertainty behind one number, the server gives clients the evidence needed to judge a result: PGS IDs, variant-match rates, model quality, reference population, percentiles, absolute-risk context, and agreement or conflict across models for the same trait.

How it fits into your workflow

flowchart LR
    U["Researcher, bioinformatician,<br/>or genome owner"]
    C["Claude · Cursor · Codex<br/>or another MCP client"]
    M["just-prs-mcp<br/>typed tools + prompts + skill"]
    J["just-prs<br/>scoring and catalog engine"]
    V["Local VCF / array"]
    P["PGS Catalog metadata<br/>and reference distributions"]

    U --> C --> M --> J
    V --> J
    P --> J
    J --> M --> C
Use case Recommended interface
Ask questions and receive an evidence-aware interpretation Claude plugin
Add structured PRS tools to Claude, Cursor, Codex, or an internal system MCP server
Build scripts, notebooks, pipelines, or a browser UI directly just-prs
Evaluate quickly without personal genomic data Public test genomes

What can you do with it?

"Search the PGS Catalog for type 2 diabetes models and explain which are best supported."

"Normalize this local VCF, compute PRS for coronary artery disease, and report
the match rate, percentile, reference population, and absolute-risk context."

"Run every suitable model for this trait and show where the models agree or conflict."

"Compare the same trait across Anton's and Livia's public genomes."

"List the available reference panels and score these PGS IDs in a batch."

The client chooses the tools and preserves the provenance of the result. You can also call every tool directly from your own MCP application.

Connect Claude, Cursor, or another MCP client

Local use requires uv. uvx creates an isolated environment for the published package, so there is no repository clone or project-level installation step.

Claude Code

Add the MCP server:

claude mcp add just-prs -- uvx just-prs-mcp@latest stdio
claude mcp list

Use a pinned version in reproducible research environments:

claude mcp add just-prs -- uvx just-prs-mcp@0.2.0 stdio

For the MCP server plus the bundled trait-interpretation skill, use the Claude plugin.

Cursor

Add to .cursor/mcp.json (project) or your user MCP config (Cursor MCP docs):

{
  "mcpServers": {
    "just-prs": {
      "command": "uvx",
      "args": ["just-prs-mcp@latest", "stdio"],
      "env": { "PRS_MCP_MODE": "essentials" }
    }
  }
}

Codex

In ~/.codex/config.toml:

[mcp_servers.just-prs]
command = "uvx"
args = ["just-prs-mcp@latest", "stdio"]

Other MCP clients and internal systems

Use the same local stdio process:

{
  "command": "uvx",
  "args": ["just-prs-mcp@latest", "stdio"],
  "env": {
    "PRS_MCP_MODE": "essentials"
  }
}

The server is built with FastMCP and returns structured Pydantic outputs, so it can be used interactively or orchestrated by your own MCP client.

Claude plugin

The repository is also packaged as a Claude Code / Cowork plugin. .claude-plugin/plugin.json registers the prs-trait-interpretation skill, while .mcp.json launches the MCP server through uvx. The skill guides Claude through model selection, quality filtering, percentile interpretation, model agreement, and research-use caveats rather than treating the first available score as definitive.

Use it directly from a checkout:

claude plugin validate .
claude --plugin-dir .

Or build the minimal ZIP for manual upload in Claude Desktop / Cowork:

uv run pack plugin
# dist/just-prs-claude-plugin-<version>.zip

The ZIP contains only the plugin manifest, MCP configuration, skill, README, and license. See the official Claude plugin documentation.

Claude Desktop (.mcpb extension)

If you only need the MCP tools, package a Claude Desktop extension:

uv run pack mcpb
# dist/just-prs-mcp-<version>.mcpb

Double-click the .mcpb or drag it into Claude Desktop. The extension still runs the server locally. Metadata and configurable options are declared in manifest.json.

Version pinning tip

uvx caches the first version it resolves for a bare package name. Prefer just-prs-mcp@latest or just-prs-mcp@<version> — avoid the bare name.

Use --mode extended or PRS_MCP_MODE=extended for bulk downloads, HuggingFace upload, prevalence priors, multi-method absolute risk, and reference-panel scoring.

From a clone (development)

The plugin's .mcp.json launches the pinned PyPI release. To run the working tree while developing:

[mcp_servers.just-prs]
command = "uv"
args = ["run", "just-prs-mcp", "stdio"]

What is a PRS?

Many traits and common diseases — type 2 diabetes, coronary artery disease, height, longevity — are polygenic: influenced by thousands of small genetic effects. A Polygenic Risk Score adds those effects and places the result relative to a reference population. It is not a diagnosis; it can visualize inherited predisposition and, where evidence allows, translate a percentile into an absolute-risk estimate.

What is MCP?

The Model Context Protocol lets AI assistants and applications call external tools through a shared protocol. Here, MCP turns the just-prs Python API into discoverable, typed operations with structured inputs and outputs. A chat client can use them conversationally; a bioinformatics platform can orchestrate the same operations programmatically.

Contents

Quickstart (developers)

uv sync                                    # deps (incl. dev)
uv sync --extra reference                  # + pgenlib (Linux/WSL)

uv run just-prs-mcp stdio                  # stdio for MCP clients
uv run just-prs-mcp stdio --mode extended  # full tool surface
uv run just-prs-mcp http                   # HTTP (default :3011)
uv run fastmcp dev fastmcp.json            # MCP Inspector

uv run pytest
uv run ruff check .
uv run pyright

The server boots with no environment configured — every setting is optional.

Test genomes (quick play)

Two public WGS datasets from just-dna-lite are built in:

Sample Zenodo VCF Size License Parameter
Anton Kulaga 18370498 antonkulaga.vcf ~482 MB CC0 sample="anton"
Livia Zaharia 19487816 SIMHIFQTILQ.hard-filtered.vcf.gz ~349 MB CC-BY-4.0 sample="livia"
"Download Anton's sample genome, normalize it, and compute the PRS for type 2 diabetes."

Typical tool chain: download_sample_genome → (auto-normalize) → compute_prs_by_traitpercentileabsolute_risk → optional plot_trait_panel.

Tools

Essentials (always available)

Tool Description
search_scores Search the PGS Catalog by free text
score_info Cleaned metadata for one PGS ID
best_performance Best evaluation metrics (OR / HR / AUROC / C-index)
search_traits REST trait search with synonym retry
trait_info Trait by EFO / MONDO ID + associated PGS IDs
list_genomes Inventory of downloaded and normalized genomes in the cache
download_sample_genome Fetch a public sample WGS VCF from Zenodo (background task; auto-normalizes by default)
normalize_vcf VCF → genotype Parquet (background task)
compute_prs Score one VCF against one PGS model
compute_prs_batch Score one VCF against many PGS models (background task)
compute_prs_by_trait Score models for a trait; auto-save result (background task)
percentile Population percentile (reference panel / theoretical / AUROC fallback)
absolute_risk Absolute disease risk from a PRS z-score + prevalence
assess_quality Quality label + interpretation (pure logic, no I/O)
compare_genomes Cross-genome comparison from saved by-trait results
plot_trait_panel Plotly figure (JSON / optional HTML) from a saved trait report

Extended (opt-in via --mode extended)

Tool Description
normalize_array 23andMe / AncestryDNA → Parquet (background task)
download_scoring_file One harmonized scoring file from EBI FTP
list_pgs_ids All PGS IDs on EBI FTP
download_all_metadata All metadata sheets as Parquet (background task)
bulk_download_scores Many/all scoring files (background task)
prevalence_info Population prevalence priors for a score or trait
absolute_risk_bundle Multi-method absolute-risk estimation
push_catalog_to_hf Upload cleaned catalog to HuggingFace (needs token)
download_reference_panel Fetch 1000G / HGDP+1kGP panel (background task)
reference_score / reference_score_batch Score against a reference panel (needs pgenlib)
pgen_read_pvar / pgen_read_psam / pgen_score PLINK2 binary ops (needs pgenlib)

File paths: computation tools take local paths on the server filesystem. Over stdio that is your machine. Reference / pgen tools need uv sync --extra reference (Linux/WSL).

Prompts and resources

Prompt Description
compute_prs_for_trait Step-by-step: search → normalize → score → interpret
interpret_prs_for_trait End-to-end trait read with quality shortlist and consensus
interpret_prs_result Interpret a single PRS result
interpret_trait_results Interpret combined results across models for one trait

Resource: resource://prs/panels — reference panels, genome builds, and active cache directory.

Typical MCP workflow

1. search_traits("venous thromboembolism")     → trait ID (e.g. EFO_0001645)
2. download_sample_genome(sample="anton")       → VCF (+ normalized Parquet)
3. compute_prs_by_trait(trait_id, genotypes_path) → score models, auto-save JSON
4. percentile(prs_score, pgs_id)                → percentile + z-score
5. absolute_risk(pgs_id, z_score)               → lifetime probability + risk ratio
6. assess_quality(...)                          → quality label
7. plot_trait_panel(result_path)                → optional chart for the client

For cross-genome comparison, repeat scoring per genome, then:

8. compare_genomes(result_paths=[...])          → ranked comparison

compute_prs_by_trait returns result_path; pass those paths to compare_genomes or plot_trait_panel.

Modes

PRS_MCP_MODE (env) or --mode (CLI), default essentials:

Mode What's registered
essentials Catalog + core compute/analyze + comparison. Smaller tool list for clients.
extended Batch downloads, HF upload, prevalence, multi-method risk, reference/pgen.

Configuration

All settings are optional. See .env.example and settings.py.

Variable Description
PRS_MCP_MODE essentials (default) or extended
PRS_MCP_CACHE_DIR Cache for catalog data, scoring files, panels, results
PRS_MCP_DEFAULT_GENOME_BUILD Default genome build (GRCh38)
PRS_MCP_DEFAULT_PANEL Default reference panel (1000g)
PRS_MCP_DUCKDB_MEMORY_LIMIT DuckDB memory for batch scoring (e.g. 8GB)
PRS_MCP_HF_TOKEN HuggingFace token for push_catalog_to_hf (also HF_TOKEN)
PRS_MCP_TRANSPORT stdio / http / sse
PRS_MCP_HOST / PRS_MCP_PORT Bind address for HTTP/SSE (default 0.0.0.0:3011)
PRS_MCP_LOG_LEVEL Logging level (info by default)

Methodology

Percentile estimation

Percentiles use the 1000 Genomes Project phase 3 panel (2,504 individuals; AFR, AMR, EAS, EUR, SAS) on GRCh38 harmonized scoring files. PRS is Σ(effect_weight × dosage) for matched variants; the user sample is placed on the same distribution.

Quality scoring

Synthetic quality score (0–100) from four tiers:

  • T1a: AUROC / C-index (strongest)
  • T1b: Beta only (0.95×)
  • T2: OR / HR only (0.90×; probit transform)
  • T3: No performance metric (0.6× floor)

Also factors cohort size, coverage, and harmonized-score penalty. Labels: High (≥70), Normal (≥50), Moderate (≥30), Low (<30).

Absolute risk

For disease traits, absolute_risk converts a z-score into lifetime probability and risk ratio vs population average. risk_ratio 1.0 = average; >1 elevated; <1 reduced. If prevalence data is unavailable, the tool reports that explicitly.

Interpreting results

Built-in instructions guide agents to:

  • Present PRS as predisposition, not a trait measurement
  • Call absolute_risk after percentile for disease traits
  • Respect trait directionality
  • Flag ancestry mismatches, low coverage, and model disagreement
  • Cite PGS IDs with links to the PGS Catalog

See the just-prs interpretation guide.

Research use only

PRS results are for research and educational purposes only and do not constitute medical advice.

  • PRS models are statistical proxies, not causal readouts.
  • Catalog listing does not mean clinical readiness.
  • Environment, lifestyle, age, sex, and biomarkers often matter as much as or more than common-variant signal.
  • Low match rates (common with consumer arrays) mean a noisier, less informative score.
  • Ancestry matters: accuracy often drops outside the training population.

A high PRS is not a diagnosis; a low PRS is not a guarantee.

Privacy

Genomic computation is designed to stay local:

  • Over stdio / Claude Desktop / the Claude plugin, tools read paths on your machine. VCFs are not uploaded to a third-party API by this server.
  • There is deliberately no client-to-server VCF upload or remote-fetch tool.
  • Optional HuggingFace upload (push_catalog_to_hf, extended mode) sends catalog metadata, not personal genotype files, and only when you invoke it with a token.

Deployment

  • Docker: docker build -t just-prs-mcp . && docker run -p 3011:3011 just-prs-mcp
  • Smithery (GitHub connect): repo is ready — smithery.yaml (runtime: python)
    • [tool.smithery] pointing at just_prs_mcp.server:start_mcp_smithery.
    1. Push this repo to GitHub.
    2. Follow the current Smithery publishing guide.
    3. Optional: set PRS_MCP_MODE=extended (or other PRS_MCP_*) in the Smithery project env if you want the full tool surface on the hosted instance. Local smoke-test of the same entrypoint: uv run smithery dev / uv run playground / uv run start.
  • Declarative: fastmcp.json for fastmcp run / fastmcp dev

Project layout

src/just_prs_mcp/
  server.py          build_server(), CLI, graceful shutdown, Smithery entrypoint
  settings.py        pydantic-settings (PRS_MCP_*), safe defaults
  client.py          shared PRSCatalog / REST-client construction + adapters
  models.py          Pydantic tool I/O models (+ reused just-prs models)
  plugin_package.py  minimal Claude plugin ZIP builder
  logging_setup.py   stdlib logging → stderr
  tools/
    catalog.py         essentials — PGS Catalog search and lookup
    compute.py         essentials — normalize, compute, analyze, compare
    extended.py        extended — batch downloads, HF upload, prevalence, multi-risk
    reference.py       extended — reference-panel / pgen scoring (pgenlib)
tests/               in-memory client tests (wiring + logic, no network)

License

MIT — see LICENSE.

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