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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: 3-52550462-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=52550462&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 52550462,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000707071.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4901C>G",
"hgvs_p": "p.Ala1634Gly",
"transcript": "NM_001405607.1",
"protein_id": "NP_001392536.1",
"transcript_support_level": null,
"aa_start": 1634,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4901,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5081,
"cdna_end": null,
"cdna_length": 7991,
"mane_select": "ENST00000707071.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4901C>G",
"hgvs_p": "p.Ala1634Gly",
"transcript": "ENST00000707071.1",
"protein_id": "ENSP00000516722.1",
"transcript_support_level": null,
"aa_start": 1634,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4901,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5081,
"cdna_end": null,
"cdna_length": 7991,
"mane_select": "NM_001405607.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4856C>G",
"hgvs_p": "p.Ala1619Gly",
"transcript": "ENST00000296302.11",
"protein_id": "ENSP00000296302.7",
"transcript_support_level": 1,
"aa_start": 1619,
"aa_end": null,
"aa_length": 1689,
"cds_start": 4856,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 4858,
"cdna_end": null,
"cdna_length": 5145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4745C>G",
"hgvs_p": "p.Ala1582Gly",
"transcript": "ENST00000409114.7",
"protein_id": "ENSP00000386643.3",
"transcript_support_level": 1,
"aa_start": 1582,
"aa_end": null,
"aa_length": 1652,
"cds_start": 4745,
"cds_end": null,
"cds_length": 4959,
"cdna_start": 4748,
"cdna_end": null,
"cdna_length": 5015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4691C>G",
"hgvs_p": "p.Ala1564Gly",
"transcript": "ENST00000409057.5",
"protein_id": "ENSP00000386593.1",
"transcript_support_level": 1,
"aa_start": 1564,
"aa_end": null,
"aa_length": 1634,
"cds_start": 4691,
"cds_end": null,
"cds_length": 4905,
"cdna_start": 4694,
"cdna_end": null,
"cdna_length": 4980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4616C>G",
"hgvs_p": "p.Ala1539Gly",
"transcript": "ENST00000410007.5",
"protein_id": "ENSP00000386529.1",
"transcript_support_level": 1,
"aa_start": 1539,
"aa_end": null,
"aa_length": 1609,
"cds_start": 4616,
"cds_end": null,
"cds_length": 4830,
"cdna_start": 4619,
"cdna_end": null,
"cdna_length": 4905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4595C>G",
"hgvs_p": "p.Ala1532Gly",
"transcript": "ENST00000356770.8",
"protein_id": "ENSP00000349213.4",
"transcript_support_level": 1,
"aa_start": 1532,
"aa_end": null,
"aa_length": 1602,
"cds_start": 4595,
"cds_end": null,
"cds_length": 4809,
"cdna_start": 4598,
"cdna_end": null,
"cdna_length": 7523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4580C>G",
"hgvs_p": "p.Ala1527Gly",
"transcript": "ENST00000409767.5",
"protein_id": "ENSP00000386601.1",
"transcript_support_level": 1,
"aa_start": 1527,
"aa_end": null,
"aa_length": 1597,
"cds_start": 4580,
"cds_end": null,
"cds_length": 4794,
"cdna_start": 4583,
"cdna_end": null,
"cdna_length": 4849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4535C>G",
"hgvs_p": "p.Ala1512Gly",
"transcript": "ENST00000337303.8",
"protein_id": "ENSP00000338302.4",
"transcript_support_level": 1,
"aa_start": 1512,
"aa_end": null,
"aa_length": 1582,
"cds_start": 4535,
"cds_end": null,
"cds_length": 4749,
"cdna_start": 4538,
"cdna_end": null,
"cdna_length": 4825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4535C>G",
"hgvs_p": "p.Ala1512Gly",
"transcript": "ENST00000394830.7",
"protein_id": "ENSP00000378307.3",
"transcript_support_level": 1,
"aa_start": 1512,
"aa_end": null,
"aa_length": 1582,
"cds_start": 4535,
"cds_end": null,
"cds_length": 4749,
"cdna_start": 4635,
"cdna_end": null,
"cdna_length": 5071,
"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": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "n.*1905C>G",
"hgvs_p": null,
"transcript": "ENST00000412587.5",
"protein_id": "ENSP00000404579.1",
"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": 4766,
"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": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "n.*1905C>G",
"hgvs_p": null,
"transcript": "ENST00000412587.5",
"protein_id": "ENSP00000404579.1",
"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": 4766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4901C>G",
"hgvs_p": "p.Ala1634Gly",
"transcript": "NM_001405601.1",
"protein_id": "NP_001392530.1",
"transcript_support_level": null,
"aa_start": 1634,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4901,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 5078,
"cdna_end": null,
"cdna_length": 7988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4883C>G",
"hgvs_p": "p.Ala1628Gly",
"transcript": "NM_001405598.1",
"protein_id": "NP_001392527.1",
"transcript_support_level": null,
"aa_start": 1628,
"aa_end": null,
"aa_length": 1698,
"cds_start": 4883,
"cds_end": null,
"cds_length": 5097,
"cdna_start": 5063,
"cdna_end": null,
"cdna_length": 7973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4862C>G",
"hgvs_p": "p.Ala1621Gly",
"transcript": "NM_001405570.1",
"protein_id": "NP_001392499.1",
"transcript_support_level": null,
"aa_start": 1621,
"aa_end": null,
"aa_length": 1691,
"cds_start": 4862,
"cds_end": null,
"cds_length": 5076,
"cdna_start": 5039,
"cdna_end": null,
"cdna_length": 7949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4856C>G",
"hgvs_p": "p.Ala1619Gly",
"transcript": "NM_001394867.1",
"protein_id": "NP_001381796.1",
"transcript_support_level": null,
"aa_start": 1619,
"aa_end": null,
"aa_length": 1689,
"cds_start": 4856,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 5178,
"cdna_end": null,
"cdna_length": 8088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4856C>G",
"hgvs_p": "p.Ala1619Gly",
"transcript": "NM_001394868.1",
"protein_id": "NP_001381797.1",
"transcript_support_level": null,
"aa_start": 1619,
"aa_end": null,
"aa_length": 1689,
"cds_start": 4856,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 5033,
"cdna_end": null,
"cdna_length": 7943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4856C>G",
"hgvs_p": "p.Ala1619Gly",
"transcript": "NM_001394869.1",
"protein_id": "NP_001381798.1",
"transcript_support_level": null,
"aa_start": 1619,
"aa_end": null,
"aa_length": 1689,
"cds_start": 4856,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 5177,
"cdna_end": null,
"cdna_length": 8087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4856C>G",
"hgvs_p": "p.Ala1619Gly",
"transcript": "NM_001400470.1",
"protein_id": "NP_001387399.1",
"transcript_support_level": null,
"aa_start": 1619,
"aa_end": null,
"aa_length": 1689,
"cds_start": 4856,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 5036,
"cdna_end": null,
"cdna_length": 7946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4856C>G",
"hgvs_p": "p.Ala1619Gly",
"transcript": "NM_001405581.1",
"protein_id": "NP_001392510.1",
"transcript_support_level": null,
"aa_start": 1619,
"aa_end": null,
"aa_length": 1689,
"cds_start": 4856,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 4895,
"cdna_end": null,
"cdna_length": 7805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4856C>G",
"hgvs_p": "p.Ala1619Gly",
"transcript": "NM_001405594.1",
"protein_id": "NP_001392523.1",
"transcript_support_level": null,
"aa_start": 1619,
"aa_end": null,
"aa_length": 1689,
"cds_start": 4856,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 5175,
"cdna_end": null,
"cdna_length": 8085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4856C>G",
"hgvs_p": "p.Ala1619Gly",
"transcript": "NM_001405603.1",
"protein_id": "NP_001392532.1",
"transcript_support_level": null,
"aa_start": 1619,
"aa_end": null,
"aa_length": 1689,
"cds_start": 4856,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 5237,
"cdna_end": null,
"cdna_length": 8147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
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},
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},
{
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},
{
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},
{
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],
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}
],
"gene_symbol": "PBRM1",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22351378202438354,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.167,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.739,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
"missense_variant"
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"inheritance_mode": "AD",
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{
"score": 0,
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"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000476842.1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.151+13556G>C",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}