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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: 10-102831535-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102831535&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CYP17A1",
"hgnc_id": 2593,
"hgvs_c": "c.1216T>G",
"hgvs_p": "p.Trp406Gly",
"inheritance_mode": "AR",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_000102.4",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "WBP1L",
"hgnc_id": 23510,
"hgvs_c": "n.*629-63A>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000647664.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong",
"acmg_score": 11,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9523,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.09,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Deficiency of steroid 17-alpha-monooxygenase",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.989769458770752,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 508,
"aa_ref": "W",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1750,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1216,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_000102.4",
"gene_hgnc_id": 2593,
"gene_symbol": "CYP17A1",
"hgvs_c": "c.1216T>G",
"hgvs_p": "p.Trp406Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369887.4",
"protein_coding": true,
"protein_id": "NP_000093.1",
"strand": false,
"transcript": "NM_000102.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 508,
"aa_ref": "W",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1750,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1216,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000369887.4",
"gene_hgnc_id": 2593,
"gene_symbol": "CYP17A1",
"hgvs_c": "c.1216T>G",
"hgvs_p": "p.Trp406Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000102.4",
"protein_coding": true,
"protein_id": "ENSP00000358903.3",
"strand": false,
"transcript": "ENST00000369887.4",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 517,
"aa_ref": "W",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1850,
"cdna_start": 1298,
"cds_end": null,
"cds_length": 1554,
"cds_start": 1243,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960108.1",
"gene_hgnc_id": 2593,
"gene_symbol": "CYP17A1",
"hgvs_c": "c.1243T>G",
"hgvs_p": "p.Trp415Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630166.1",
"strand": false,
"transcript": "ENST00000960108.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 517,
"aa_ref": "W",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1770,
"cdna_start": 1295,
"cds_end": null,
"cds_length": 1554,
"cds_start": 1243,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960123.1",
"gene_hgnc_id": 2593,
"gene_symbol": "CYP17A1",
"hgvs_c": "c.1243T>G",
"hgvs_p": "p.Trp415Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630182.1",
"strand": false,
"transcript": "ENST00000960123.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 509,
"aa_ref": "W",
"aa_start": 407,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1684,
"cdna_start": 1280,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1219,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000639393.1",
"gene_hgnc_id": 2593,
"gene_symbol": "CYP17A1",
"hgvs_c": "c.1219T>G",
"hgvs_p": "p.Trp407Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492651.1",
"strand": false,
"transcript": "ENST00000639393.1",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 507,
"aa_ref": "W",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1904,
"cdna_start": 1353,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1213,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960106.1",
"gene_hgnc_id": 2593,
"gene_symbol": "CYP17A1",
"hgvs_c": "c.1213T>G",
"hgvs_p": "p.Trp405Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630165.1",
"strand": false,
"transcript": "ENST00000960106.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 506,
"aa_ref": "W",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1747,
"cdna_start": 1265,
"cds_end": null,
"cds_length": 1521,
"cds_start": 1210,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960110.1",
"gene_hgnc_id": 2593,
"gene_symbol": "CYP17A1",
"hgvs_c": "c.1210T>G",
"hgvs_p": "p.Trp404Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630168.1",
"strand": false,
"transcript": "ENST00000960110.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 497,
"aa_ref": "W",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1716,
"cdna_start": 1236,
"cds_end": null,
"cds_length": 1494,
"cds_start": 1183,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960117.1",
"gene_hgnc_id": 2593,
"gene_symbol": "CYP17A1",
"hgvs_c": "c.1183T>G",
"hgvs_p": "p.Trp395Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630177.1",
"strand": false,
"transcript": "ENST00000960117.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 497,
"aa_ref": "W",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1715,
"cdna_start": 1237,
"cds_end": null,
"cds_length": 1494,
"cds_start": 1183,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960119.1",
"gene_hgnc_id": 2593,
"gene_symbol": "CYP17A1",
"hgvs_c": "c.1183T>G",
"hgvs_p": "p.Trp395Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630178.1",
"strand": false,
"transcript": "ENST00000960119.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 486,
"aa_ref": "W",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1681,
"cdna_start": 1271,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1216,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960121.1",
"gene_hgnc_id": 2593,
"gene_symbol": "CYP17A1",
"hgvs_c": "c.1216T>G",
"hgvs_p": "p.Trp406Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630180.1",
"strand": false,
"transcript": "ENST00000960121.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 485,
"aa_ref": "W",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1751,
"cdna_start": 1271,
"cds_end": null,
"cds_length": 1458,
"cds_start": 1216,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960109.1",
"gene_hgnc_id": 2593,
"gene_symbol": "CYP17A1",
"hgvs_c": "c.1216T>G",
"hgvs_p": "p.Trp406Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630167.1",
"strand": false,
"transcript": "ENST00000960109.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 485,
"aa_ref": "W",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1681,
"cdna_start": 1202,
"cds_end": null,
"cds_length": 1458,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960114.1",
"gene_hgnc_id": 2593,
"gene_symbol": "CYP17A1",
"hgvs_c": "c.1147T>G",
"hgvs_p": "p.Trp383Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630174.1",
"strand": false,
"transcript": "ENST00000960114.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 480,
"aa_ref": "W",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1667,
"cdna_start": 1187,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1132,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000960111.1",
"gene_hgnc_id": 2593,
"gene_symbol": "CYP17A1",
"hgvs_c": "c.1132T>G",
"hgvs_p": "p.Trp378Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630170.1",
"strand": false,
"transcript": "ENST00000960111.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 479,
"aa_ref": "W",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1722,
"cdna_start": 1240,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1129,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000638971.1",
"gene_hgnc_id": 2593,
"gene_symbol": "CYP17A1",
"hgvs_c": "c.1129T>G",
"hgvs_p": "p.Trp377Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492313.1",
"strand": false,
"transcript": "ENST00000638971.1",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 456,
"aa_ref": "W",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1588,
"cdna_start": 1180,
"cds_end": null,
"cds_length": 1371,
"cds_start": 1129,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000960122.1",
"gene_hgnc_id": 2593,
"gene_symbol": "CYP17A1",
"hgvs_c": "c.1129T>G",
"hgvs_p": "p.Trp377Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630181.1",
"strand": false,
"transcript": "ENST00000960122.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 418,
"aa_ref": "W",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1477,
"cdna_start": 1001,
"cds_end": null,
"cds_length": 1257,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000960120.1",
"gene_hgnc_id": 2593,
"gene_symbol": "CYP17A1",
"hgvs_c": "c.946T>G",
"hgvs_p": "p.Trp316Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630179.1",
"strand": false,
"transcript": "ENST00000960120.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 407,
"aa_ref": "W",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1506,
"cdna_start": 1024,
"cds_end": null,
"cds_length": 1224,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000638190.1",
"gene_hgnc_id": 2593,
"gene_symbol": "CYP17A1",
"hgvs_c": "c.913T>G",
"hgvs_p": "p.Trp305Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492539.1",
"strand": false,
"transcript": "ENST00000638190.1",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 357,
"aa_ref": "W",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1298,
"cdna_start": 818,
"cds_end": null,
"cds_length": 1074,
"cds_start": 763,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000960113.1",
"gene_hgnc_id": 2593,
"gene_symbol": "CYP17A1",
"hgvs_c": "c.763T>G",
"hgvs_p": "p.Trp255Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630172.1",
"strand": false,
"transcript": "ENST00000960113.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 356,
"aa_ref": "W",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1227,
"cdna_start": 821,
"cds_end": null,
"cds_length": 1071,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000638272.1",
"gene_hgnc_id": 2593,
"gene_symbol": "CYP17A1",
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Trp254Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491508.1",
"strand": false,
"transcript": "ENST00000638272.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 234,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000469683.1",
"gene_hgnc_id": 2593,
"gene_symbol": "CYP17A1",
"hgvs_c": "n.169T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000469683.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
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"aa_length": null,
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{
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],
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}
]
}