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Beacon v2 CBI Tools

Beacon v2 CBI Tools

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Beacon v2 CBI Tools prepares portable Beacon Friendly Format (BFF) data for Beacon v2. Its command-line interface is called bff-tools. It validates phenotypic and clinical metadata, converts VCF or SNP-array TSV input into BFF genomicVariations, and can generate a standalone browser report.

Beacon v2 CBI Tools is the actively developed continuation of the original beacon2-ri-tools codebase, now developed at CNAG Biomedical Informatics by its original developer.

The two historical image badges preserve the download record of earlier distributions; those images are deprecated for new installations.

The output remains independent of a particular Beacon server or database. For serving, consider the Beacon v2 Production Implementation or bycon.

Read the documentation for installation options, the quick start, the end-to-end tutorial, CLI reference, annotation resources, and troubleshooting.

Install

python3 -m pip install beacon2-cbi-tools

Python 3.10 through 3.14 is supported. Docker, Apptainer, and source/HPC instructions are available in the installation guide.

Check the installation and run the packaged example without downloading annotation databases:

bff-tools doctor
bff-tools demo

Data flow

Flow from source metadata and variants through Beacon v2 CBI Tools to portable BFF files and a downstream Beacon service

Roadmap

  • Follow Beacon v2 developments, including VRS alignment.
  • Move to Beacon v3 once the specification is finalized.

Citation

If you use these tools in published work, please cite:

Rueda M, Ariosa R. "Beacon v2 Reference Implementation: a toolkit to enable federated sharing of genomic and phenotypic data." Bioinformatics, btac568. https://doi.org/10.1093/bioinformatics/btac568

License

Written by Manuel Rueda, PhD, at CNAG Biomedical Informatics. Licensed under the GNU General Public License v3.0 or later; see LICENSE.

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