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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 2-214730457-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=214730457&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 214730457,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000465.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.1955A>G",
"hgvs_p": "p.Glu652Gly",
"transcript": "NM_000465.4",
"protein_id": "NP_000456.2",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 777,
"cds_start": 1955,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 2069,
"cdna_end": null,
"cdna_length": 5478,
"mane_select": "ENST00000260947.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.1955A>G",
"hgvs_p": "p.Glu652Gly",
"transcript": "ENST00000260947.9",
"protein_id": "ENSP00000260947.4",
"transcript_support_level": 1,
"aa_start": 652,
"aa_end": null,
"aa_length": 777,
"cds_start": 1955,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 2069,
"cdna_end": null,
"cdna_length": 5478,
"mane_select": "NM_000465.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.1898A>G",
"hgvs_p": "p.Glu633Gly",
"transcript": "ENST00000617164.5",
"protein_id": "ENSP00000480470.1",
"transcript_support_level": 1,
"aa_start": 633,
"aa_end": null,
"aa_length": 758,
"cds_start": 1898,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1971,
"cdna_end": null,
"cdna_length": 2473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.1547A>G",
"hgvs_p": "p.Glu516Gly",
"transcript": "ENST00000613706.5",
"protein_id": "ENSP00000484976.2",
"transcript_support_level": 1,
"aa_start": 516,
"aa_end": null,
"aa_length": 641,
"cds_start": 1547,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1661,
"cdna_end": null,
"cdna_length": 2131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.545A>G",
"hgvs_p": "p.Glu182Gly",
"transcript": "ENST00000613374.5",
"protein_id": "ENSP00000484464.1",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 307,
"cds_start": 545,
"cds_end": null,
"cds_length": 924,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 1111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.416A>G",
"hgvs_p": "p.Glu139Gly",
"transcript": "ENST00000619009.5",
"protein_id": "ENSP00000482293.1",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 264,
"cds_start": 416,
"cds_end": null,
"cds_length": 795,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "n.290A>G",
"hgvs_p": null,
"transcript": "ENST00000471590.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "n.*18A>G",
"hgvs_p": null,
"transcript": "ENST00000613192.2",
"protein_id": "ENSP00000483275.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.*621A>G",
"hgvs_p": null,
"transcript": "ENST00000620057.4",
"protein_id": "ENSP00000481988.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": -4,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "n.*18A>G",
"hgvs_p": null,
"transcript": "ENST00000613192.2",
"protein_id": "ENSP00000483275.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.1898A>G",
"hgvs_p": "p.Glu633Gly",
"transcript": "NM_001282543.2",
"protein_id": "NP_001269472.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 758,
"cds_start": 1898,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2012,
"cdna_end": null,
"cdna_length": 5421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.602A>G",
"hgvs_p": "p.Glu201Gly",
"transcript": "NM_001282545.2",
"protein_id": "NP_001269474.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 326,
"cds_start": 602,
"cds_end": null,
"cds_length": 981,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 4125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.602A>G",
"hgvs_p": "p.Glu201Gly",
"transcript": "ENST00000421162.2",
"protein_id": "ENSP00000392245.2",
"transcript_support_level": 3,
"aa_start": 201,
"aa_end": null,
"aa_length": 326,
"cds_start": 602,
"cds_end": null,
"cds_length": 981,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 1010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.545A>G",
"hgvs_p": "p.Glu182Gly",
"transcript": "NM_001282548.2",
"protein_id": "NP_001269477.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 307,
"cds_start": 545,
"cds_end": null,
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"cdna_start": 659,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.416A>G",
"hgvs_p": "p.Glu139Gly",
"transcript": "NM_001282549.2",
"protein_id": "NP_001269478.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 264,
"cds_start": 416,
"cds_end": null,
"cds_length": 795,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 3939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Glu17Gly",
"transcript": "ENST00000432456.5",
"protein_id": "ENSP00000405020.2",
"transcript_support_level": 3,
"aa_start": 17,
"aa_end": null,
"aa_length": 43,
"cds_start": 50,
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"cdna_start": 52,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.2054A>G",
"hgvs_p": "p.Glu685Gly",
"transcript": "XM_017004613.2",
"protein_id": "XP_016860102.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 810,
"cds_start": 2054,
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"cds_length": 2433,
"cdna_start": 2168,
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"cdna_length": 5577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "n.*1575A>G",
"hgvs_p": null,
"transcript": "ENST00000455743.5",
"protein_id": "ENSP00000412186.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "n.*2033A>G",
"hgvs_p": null,
"transcript": "ENST00000650978.1",
"protein_id": "ENSP00000498880.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "n.1920A>G",
"hgvs_p": null,
"transcript": "NR_104212.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "n.1863A>G",
"hgvs_p": null,
"transcript": "NR_104215.2",
"protein_id": null,
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "n.1119A>G",
"hgvs_p": null,
"transcript": "NR_104216.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "n.*1575A>G",
"hgvs_p": null,
"transcript": "ENST00000455743.5",
"protein_id": "ENSP00000412186.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "n.*2033A>G",
"hgvs_p": null,
"transcript": "ENST00000650978.1",
"protein_id": "ENSP00000498880.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"dbsnp": "rs876658395",
"frequency_reference_population": 0.0000013682361,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136824,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5254842042922974,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.353,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7884,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.599,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000465.4",
"gene_symbol": "BARD1",
"hgnc_id": 952,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1955A>G",
"hgvs_p": "p.Glu652Gly"
}
],
"clinvar_disease": "Familial cancer of breast,Hereditary cancer-predisposing syndrome,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|Familial cancer of breast|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}