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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: 8-142875089-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=142875089&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CYP11B1",
"hgnc_id": 2591,
"hgvs_c": "c.1266C>T",
"hgvs_p": "p.Arg422Arg",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_000497.4",
"verdict": "Benign"
},
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "GML",
"hgnc_id": 4375,
"hgvs_c": "c.181+33864G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -16,
"transcript": "ENST00000522728.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 434,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "8",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Deficiency of steroid 11-beta-monooxygenase,Glucocorticoid-remediable aldosteronism,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5799999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 503,
"aa_ref": "R",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3540,
"cdna_start": 1278,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1266,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_000497.4",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1266C>T",
"hgvs_p": "p.Arg422Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000292427.10",
"protein_coding": true,
"protein_id": "NP_000488.3",
"strand": false,
"transcript": "NM_000497.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 503,
"aa_ref": "R",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3540,
"cdna_start": 1278,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1266,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000292427.10",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1266C>T",
"hgvs_p": "p.Arg422Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000497.4",
"protein_coding": true,
"protein_id": "ENSP00000292427.5",
"strand": false,
"transcript": "ENST00000292427.10",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 574,
"aa_ref": "R",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2280,
"cdna_start": 1486,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1479,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000377675.3",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1479C>T",
"hgvs_p": "p.Arg493Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366903.3",
"strand": false,
"transcript": "ENST00000377675.3",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 181,
"aa_ref": "R",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2562,
"cdna_start": 300,
"cds_end": null,
"cds_length": 546,
"cds_start": 300,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000519285.5",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.300C>T",
"hgvs_p": "p.Arg100Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430144.1",
"strand": false,
"transcript": "ENST00000519285.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 437,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1874,
"cdna_start": null,
"cds_end": null,
"cds_length": 1314,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000517471.5",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1200+145C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428043.1",
"strand": false,
"transcript": "ENST00000517471.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 557,
"aa_ref": "R",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3695,
"cdna_start": 1440,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1428,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000964969.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1428C>T",
"hgvs_p": "p.Arg476Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635028.1",
"strand": false,
"transcript": "ENST00000964969.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 549,
"aa_ref": "R",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3327,
"cdna_start": 1416,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1404,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000964974.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1404C>T",
"hgvs_p": "p.Arg468Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635033.1",
"strand": false,
"transcript": "ENST00000964974.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 548,
"aa_ref": "R",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3849,
"cdna_start": 1588,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1401,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000964956.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1401C>T",
"hgvs_p": "p.Arg467Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635015.1",
"strand": false,
"transcript": "ENST00000964956.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 545,
"aa_ref": "R",
"aa_start": 464,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3659,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1392,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000964968.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1392C>T",
"hgvs_p": "p.Arg464Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635027.1",
"strand": false,
"transcript": "ENST00000964968.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 529,
"aa_ref": "R",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4493,
"cdna_start": 1402,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1344,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000964955.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1344C>T",
"hgvs_p": "p.Arg448Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635014.1",
"strand": false,
"transcript": "ENST00000964955.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 512,
"aa_ref": "R",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3624,
"cdna_start": 1360,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1293,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000964957.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1293C>T",
"hgvs_p": "p.Arg431Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635016.1",
"strand": false,
"transcript": "ENST00000964957.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 500,
"aa_ref": "R",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3524,
"cdna_start": 1269,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1257,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000964970.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1257C>T",
"hgvs_p": "p.Arg419Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635029.1",
"strand": false,
"transcript": "ENST00000964970.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 497,
"aa_ref": "R",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3166,
"cdna_start": 1276,
"cds_end": null,
"cds_length": 1494,
"cds_start": 1266,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000964975.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1266C>T",
"hgvs_p": "p.Arg422Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635034.1",
"strand": false,
"transcript": "ENST00000964975.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 473,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3447,
"cdna_start": 1191,
"cds_end": null,
"cds_length": 1422,
"cds_start": 1176,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000964963.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1176C>T",
"hgvs_p": "p.Arg392Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635022.1",
"strand": false,
"transcript": "ENST00000964963.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 471,
"aa_ref": "R",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3438,
"cdna_start": 1183,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1170,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000964967.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1170C>T",
"hgvs_p": "p.Arg390Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635026.1",
"strand": false,
"transcript": "ENST00000964967.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 460,
"aa_ref": "R",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1968,
"cdna_start": 1149,
"cds_end": null,
"cds_length": 1383,
"cds_start": 1137,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000964978.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1137C>T",
"hgvs_p": "p.Arg379Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635037.1",
"strand": false,
"transcript": "ENST00000964978.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 458,
"aa_ref": "R",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3405,
"cdna_start": 1142,
"cds_end": null,
"cds_length": 1377,
"cds_start": 1131,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000964961.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1131C>T",
"hgvs_p": "p.Arg377Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635020.1",
"strand": false,
"transcript": "ENST00000964961.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 451,
"aa_ref": "R",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3410,
"cdna_start": 1153,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1110,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000964958.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1110C>T",
"hgvs_p": "p.Arg370Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635017.1",
"strand": false,
"transcript": "ENST00000964958.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 435,
"aa_ref": "R",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3065,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 1308,
"cds_start": 1062,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000964971.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1062C>T",
"hgvs_p": "p.Arg354Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635030.1",
"strand": false,
"transcript": "ENST00000964971.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 505,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3543,
"cdna_start": null,
"cds_end": null,
"cds_length": 1518,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964962.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1404+145C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635021.1",
"strand": false,
"transcript": "ENST00000964962.1",
"transcript_support_level": null
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