Intro

MyVariant.Info provides simple-to-use REST web services to query/retrieve genetic variant annotation data. It’s designed with simplicity and performance emphasized. myvariant, is an easy-to-use Python wrapper to access MyVariant.Info services.

Requirements

python >=2.7 (including python3)

(Python 2.6 might still work, not it’s not supported any more since v4.0.0.)

biothings_client (>=0.2.0, install using “pip install biothings_client”)

Optional dependencies

pandas (install using “pip install pandas”) is required for returning a list of variant objects as DataFrame.

Installation

Option 1

pip install myvariant

Option 2

download/extract the source code and run:

python setup.py install

Option 3

install the latest code directly from the repository:

pip install -e git+https://github.com/biothings/myvariant.py#egg=myvariant

Version history

CHANGES.txt

Tutorial

Access ClinVar Data from MyVariant.info Services (the raw ipynb file is here)

Documentation

http://myvariant-py.readthedocs.org/

Usage

In [1]: import myvariant

In [2]: mv = myvariant.MyVariantInfo()

In [3]: mv.getvariant("chr7:g.140453134T>C")
Out[3]:  #output below is collapsed
{"_id": "chr7:g.140453134T>C",
 "_version": 1,
 "cadd": {...},
 "cosmic": {...},
 "dbnsfp": {...},
 "dbsnp": {...},
 "docm": {...},
 "mutdb": {...},
 "snpeff": {...},
 "vcf": {
    "alt": "C",
    "position": "140453134",
    "ref": "T"
 }}

In [4]: mv.getvariant("chr7:g.140453134T>C", fields='cosmic,snpeff')
Out[4]:
{'_id': 'chr7:g.140453134T>C',
 '_version': 1,
 'snpeff': {'ann': {'transcript_biotype': 'Coding',
   'gene_id': 'BRAF',
   'effect': 'missense_variant',
   'putative_impact': 'MODERATE',
   'cds': {'length': '2301', 'position': '1801'},
   'feature_type': 'transcript',
   'gene_name': 'BRAF',
   'feature_id': 'NM_004333.4',
   'hgvs_p': 'p.Lys601Glu',
   'hgvs_c': 'c.1801A>G',
   'rank': '15',
   'total': '18',
   'protein': {'length': '766', 'position': '601'},
   'cdna': {'length': '2946', 'position': '1862'}}},
 'cosmic': {'mut_freq': 0.07,
  'alt': 'G',
  'mut_nt': 'A>G',
  'tumor_site': 'upper_aerodigestive_tract',
  'ref': 'A',
  'chrom': '7',
  'hg19': {'start': 140453134, 'end': 140453134},
  'cosmic_id': 'COSM478'}
 }

In [5]: mv.getvariant("chr7:g.140453134T>C", fields=['cosmic.tumor_site', 'snpeff.ann.gene_name'])
Out[5]:
{'_id': 'chr7:g.140453134T>C',
 '_version': 1,
 'snpeff': {'ann': {'gene_name': 'BRAF'}},
 'cosmic': {'tumor_site': 'upper_aerodigestive_tract'}
}

In [6]: mv.getvariants(['chr1:g.866422C>T', 'chr1:g.876664G>A','chr1:g.69635G>C'])
Out[6]:
[{'_id': 'chr1:g.866422C>T',
   ...
 },
 {'_id': 'chr1:g.876664G>A',
  ...
 },
 {'_id': 'chr1:g.69635G>C',
  ...
 }]

In [7]: mv.getvariants(['chr1:g.866422C>T', 'chr1:g.876664G>A','chr1:g.69635G>C'],
fields='cadd.phred,dbsnp.rsid')
Out[7]:
[{'query': 'chr1:g.866422C>T',
  '_id': 'chr1:g.866422C>T',
  'dbsnp': {'rsid': 'rs139210662'},
  'cadd': {'phred': 14.31}},
 {'query': 'chr1:g.876664G>A',
  '_id': 'chr1:g.876664G>A',
  'dbsnp': {'rsid': 'rs571654307'},
  'cadd': {'phred': 9.971}},
 {'query': 'chr1:g.69635G>C',
  '_id': 'chr1:g.69635G>C',
  'dbsnp': {'rsid': 'rs541766448'},
  'cadd': {'phred': 6.123}}]

In [8]: mv.getvariants(['chr1:g.866422C>T', 'chr1:g.876664G>A','chr1:g.69635G>C'],
fields='cadd.phred,dbsnp.rsid', as_dataframe=True)
Out[8]:
                               _id  cadd.phred   dbsnp.rsid
query
chr1:g.866422C>T  chr1:g.866422C>T      14.310  rs139210662
chr1:g.876664G>A  chr1:g.876664G>A       9.971  rs571654307
chr1:g.69635G>C    chr1:g.69635G>C       6.123  rs541766448

In [9]: mv.query('dbsnp.rsid:rs58991260', fields='dbsnp')
Out[9]:
{'total': 1,
 'hits': [{'_score': 17.48471,
   '_id': 'chr1:g.218631822G>A',
   'dbsnp': {'class': 'SNV',
    'gmaf': 0.02157,
    'vartype': 'snp',
    'flags': ['ASP', 'G5', 'G5A', 'GNO', 'KGPhase1', 'KGPhase3', 'SLO'],
    'var_subtype': 'ts',
    'alleles': [{'freq': 0.9784, 'allele': 'G'},
     {'freq': 0.02157, 'allele': 'A'}],
    'allele_origin': 'unspecified',
    'chrom': '1',
    'hg19': {'start': 218631822, 'end': 218631823},
    'validated': True,
    'dbsnp_build': 129,
    'alt': 'A',
    'rsid': 'rs58991260',
    'ref': 'G'}}],
 'took': 24,
 'max_score': 17.48471}


In [10]: mv.query('snpeff.ann.gene_name:cdk2 AND dbnsfp.polyphen2.hdiv.pred:D',
fields='dbnsfp.polyphen2.hdiv')
Out[10]:
{'total': 1188,
 'hits': [{'dbnsfp': {'polyphen2': {'hdiv': {'rankscore': 0.89865,
      'pred': 'D',
      'score': 1.0}}},
   '_score': 8.343648,
   '_id': 'chr12:g.56359720C>T'},
  {'dbnsfp': {'polyphen2': {'hdiv': {'rankscore': 0.89865,
      'pred': 'D',
      'score': [1.0, 0.957, 0.998]}}},
   '_score': 8.343648,
   '_id': 'chr12:g.56360819G>C'},

   ...

  {'dbnsfp': {'polyphen2': {'hdiv': {'rankscore': 0.89865,
      'pred': 'D',
      'score': 1.0}}},
   '_score': 8.343648,
   '_id': 'chr12:g.56360853G>A'}],
   'took': 3521,
   'max_score': 8.343648}


In [11]: mv.query('chr1:69000-70000', fields='cadd.phred')
Out[11]:
{'total': 3,
 'hits': [
  {'_score': 14.155852, '_id': 'chr1:g.69428T>G', 'cadd': {'phred': 12.14}},
  {'_score': 14.148425, '_id': 'chr1:g.69511A>G', 'cadd': {'phred': 8.98}},
  {'_score': 3.5420983, '_id': 'chr1:g.69538G>A', 'cadd': {'phred': 7.339}}],
 'took': 725,
 'max_score': 14.155852}

In [12]: mv.querymany(['rs58991260', 'rs2500'], scopes='dbsnp.rsid', fields='dbsnp')
Finished.
Out[12]:
[{'query': 'rs58991260',
  '_id': 'chr1:g.218631822G>A',
  'dbsnp': {'class': 'SNV',
   'gmaf': 0.02157,
   'vartype': 'snp',
   'flags': ['ASP', 'G5', 'G5A', 'GNO', 'KGPhase1', 'KGPhase3', 'SLO'],
   'var_subtype': 'ts',
   'alleles': [{'freq': 0.9784, 'allele': 'G'},
    {'freq': 0.02157, 'allele': 'A'}],
   'allele_origin': 'unspecified',
   'chrom': '1',
   'hg19': {'start': 218631822, 'end': 218631823},
   'validated': True,
   'dbsnp_build': 129,
   'alt': 'A',
   'rsid': 'rs58991260',
   'ref': 'G'}},
 {'query': 'rs2500',
  '_id': 'chr11:g.66397320A>G',
  'dbsnp': {'class': 'SNV',
   'vartype': 'snp',
   'flags': ['ASP', 'INT', 'RV', 'U3'],
   'var_subtype': 'ts',
   'alleles': [{'allele': 'A'}, {'allele': 'G'}],
   'allele_origin': 'unspecified',
   'chrom': '11',
   'hg19': {'start': 66397320, 'end': 66397321},
   'dbsnp_build': 36,
   'alt': 'G',
   'ref': 'A',
   'rsid': 'rs2500',
   'validated': False}}]

In [13]: mv.querymany(['RCV000083620', 'RCV000083584'],
scopes='clinvar.rcv_accession', fields='clinvar')
Finished.
Out[13]:
[{'query': 'RCV000083620',
  'clinvar': {'type': 'single nucleotide variant',
   'gene': {'id': 5009, 'symbol': 'OTC'},
   'origin': 'unknown',
   'last_evaluated': 'None',
   'other_ids': 'dbSNP:72558473;',
   'clinvar_id': 97371,
   'hgvs': {'genomic': ['NG_008471.1:g.64470C>T',
     'NC_000023.11:g.38411952C>T',
     'NC_000023.10:g.38271205C>T'],
    'coding': 'NM_000531.5:c.958C>T'},
   'chrom': 'X',
   'cytogenic': 'Xp11.4',
   'name': 'NM_000531.5(OTC):c.958C>T (p.Arg320Ter)',
   'number_submitters': 1,
   'alt': 'T',
   'hg19': {'start': 38271205, 'end': 38271205},
   'allele_id': 103263,
   'rcv_accession': 'RCV000083620',
   'review_status': 'classified by single submitter',
   'clinical_significance': 'Pathogenic',
   'rsid': 'rs72558473',
   'ref': 'C'},
  '_id': 'chrX:g.38271205C>T'},
 {'query': 'RCV000083584',
  'clinvar': {'type': 'Deletion',
   'gene': {'id': 5009, 'symbol': 'OTC'},
   'origin': 'unknown',
   'last_evaluated': 'None',
   'other_ids': 'dbSNP:72558452;',
   'clinvar_id': 97337,
   'hgvs': {'genomic': ['NG_008471.1:g.61493_61495delGAG',
     'NC_000023.11:g.38408975_38408977delGAG',
     'NC_000023.10:g.38268228_38268230delGAG'],
    'coding': 'NM_000531.5:c.817_819delGAG'},
   'chrom': 'X',
   'cytogenic': 'Xp11.4',
   'name': 'NM_000531.5(OTC):c.817_819delGAG (p.Glu273del)',
   'number_submitters': 1,
   'alt': '-',
   'hg19': {'start': 38268228, 'end': 38268230},
   'allele_id': 103229,
   'rcv_accession': 'RCV000083584',
   'review_status': 'classified by single submitter',
   'clinical_significance': 'Pathogenic',
   'rsid': 'rs72558452',
   'ref': 'GAG'},
  '_id': 'chrX:g.38268228_38268230del'}]

In [14]: mv.querymany(['rs2500', 'RCV000083611', 'COSM1392449'],
scopes='clinvar.rcv_accession,dbsnp.rsid,cosmic.cosmic_id', fields='vcf', as_dataframe=1)
Finished.
Out[14]:
                              _id vcf.alt vcf.position vcf.ref
query
rs2500        chr11:g.66397320A>G       G     66397320       A
RCV000083611   chrX:g.38271176A>G       G     38271176       A
COSM1392449   chr19:g.30935013C>T       T     30935013       C


In [15]: mv.querymany(['rs58991260', 'rs2500', 'NA_TEST'], scopes='dbsnp.rsid', fields='dbsnp')
Finished.
1 input query terms found no hit:
        ['NA_TEST']
Pass "returnall=True" to return complete lists of duplicate or missing query terms.
Out[15]:
[{'query': 'rs58991260',
  '_id': 'chr1:g.218631822G>A',
  'dbsnp': {'class': 'SNV',
   'gmaf': 0.02157,
   'vartype': 'snp',
   'flags': ['ASP', 'G5', 'G5A', 'GNO', 'KGPhase1', 'KGPhase3', 'SLO'],
   'var_subtype': 'ts',
   'alleles': [{'freq': 0.9784, 'allele': 'G'},
    {'freq': 0.02157, 'allele': 'A'}],
   'allele_origin': 'unspecified',
   'chrom': '1',
   'hg19': {'start': 218631822, 'end': 218631823},
   'validated': True,
   'dbsnp_build': 129,
   'alt': 'A',
   'rsid': 'rs58991260',
   'ref': 'G'}},
 {'query': 'rs2500',
  '_id': 'chr11:g.66397320A>G',
  'dbsnp': {'class': 'SNV',
   'vartype': 'snp',
   'flags': ['ASP', 'INT', 'RV', 'U3'],
   'var_subtype': 'ts',
   'alleles': [{'allele': 'A'}, {'allele': 'G'}],
   'allele_origin': 'unspecified',
   'chrom': '11',
   'hg19': {'start': 66397320, 'end': 66397321},
   'dbsnp_build': 36,
   'alt': 'G',
   'ref': 'A',
   'rsid': 'rs2500',
   'validated': False}},
 {'query': 'NA_TEST', 'notfound': True}]

Contact

Drop us any question or feedback:

• biothings@googlegroups.com (public discussion)

• help@myvariant.info (reach devs privately)

• Github issues

• on twitter @myvariantinfo

• Post a question on BioStars.org with tag #myvariant.