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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: 8-142875841-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=142875841&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PM2",
"PP2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CYP11B1",
"hgnc_id": 2591,
"hgvs_c": "c.992C>T",
"hgvs_p": "p.Ala331Val",
"inheritance_mode": "AR,AD",
"pathogenic_score": 19,
"score": 19,
"transcript": "NM_000497.4",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "GML",
"hgnc_id": 4375,
"hgvs_c": "c.181+34616G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 16,
"score": 16,
"transcript": "ENST00000522728.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PP2,PP3_Moderate,PP5_Very_Strong",
"acmg_score": 19,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.8662,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.06,
"chr": "8",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Deficiency of steroid 11-beta-monooxygenase,Glucocorticoid-remediable aldosteronism,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8764243125915527,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 503,
"aa_ref": "A",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3540,
"cdna_start": 1004,
"cds_end": null,
"cds_length": 1512,
"cds_start": 992,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_000497.4",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.992C>T",
"hgvs_p": "p.Ala331Val",
"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": "V",
"aa_end": null,
"aa_length": 503,
"aa_ref": "A",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3540,
"cdna_start": 1004,
"cds_end": null,
"cds_length": 1512,
"cds_start": 992,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000292427.10",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.992C>T",
"hgvs_p": "p.Ala331Val",
"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": "V",
"aa_end": null,
"aa_length": 574,
"aa_ref": "A",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2280,
"cdna_start": 1212,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1205,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000377675.3",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1205C>T",
"hgvs_p": "p.Ala402Val",
"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": "V",
"aa_end": null,
"aa_length": 437,
"aa_ref": "A",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1874,
"cdna_start": 1003,
"cds_end": null,
"cds_length": 1314,
"cds_start": 992,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000517471.5",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.992C>T",
"hgvs_p": "p.Ala331Val",
"intron_rank": null,
"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": "V",
"aa_end": null,
"aa_length": 557,
"aa_ref": "A",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3695,
"cdna_start": 1166,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1154,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000964969.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1154C>T",
"hgvs_p": "p.Ala385Val",
"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": "V",
"aa_end": null,
"aa_length": 549,
"aa_ref": "A",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3327,
"cdna_start": 1142,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000964974.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1130C>T",
"hgvs_p": "p.Ala377Val",
"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": "V",
"aa_end": null,
"aa_length": 548,
"aa_ref": "A",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3849,
"cdna_start": 1314,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1127,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000964956.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1127C>T",
"hgvs_p": "p.Ala376Val",
"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": "V",
"aa_end": null,
"aa_length": 545,
"aa_ref": "A",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3659,
"cdna_start": 1130,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1118,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000964968.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1118C>T",
"hgvs_p": "p.Ala373Val",
"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": "V",
"aa_end": null,
"aa_length": 529,
"aa_ref": "A",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4493,
"cdna_start": 1128,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1070,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000964955.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1070C>T",
"hgvs_p": "p.Ala357Val",
"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": "V",
"aa_end": null,
"aa_length": 512,
"aa_ref": "A",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3624,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1019,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000964957.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1019C>T",
"hgvs_p": "p.Ala340Val",
"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": "V",
"aa_end": null,
"aa_length": 505,
"aa_ref": "A",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3543,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1127,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000964962.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1127C>T",
"hgvs_p": "p.Ala376Val",
"intron_rank": null,
"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
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 500,
"aa_ref": "A",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3524,
"cdna_start": 995,
"cds_end": null,
"cds_length": 1503,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000964970.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.983C>T",
"hgvs_p": "p.Ala328Val",
"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": "V",
"aa_end": null,
"aa_length": 497,
"aa_ref": "A",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3166,
"cdna_start": 1002,
"cds_end": null,
"cds_length": 1494,
"cds_start": 992,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000964975.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.992C>T",
"hgvs_p": "p.Ala331Val",
"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": "V",
"aa_end": null,
"aa_length": 491,
"aa_ref": "A",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2062,
"cdna_start": 1165,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1154,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000964977.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1154C>T",
"hgvs_p": "p.Ala385Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635036.1",
"strand": false,
"transcript": "ENST00000964977.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 483,
"aa_ref": "A",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2039,
"cdna_start": 1142,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000964976.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1130C>T",
"hgvs_p": "p.Ala377Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635035.1",
"strand": false,
"transcript": "ENST00000964976.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 482,
"aa_ref": "A",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3474,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1127,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000964964.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1127C>T",
"hgvs_p": "p.Ala376Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635023.1",
"strand": false,
"transcript": "ENST00000964964.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 473,
"aa_ref": "A",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3447,
"cdna_start": 917,
"cds_end": null,
"cds_length": 1422,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000964963.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Ala301Val",
"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": "V",
"aa_end": null,
"aa_length": 471,
"aa_ref": "A",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3438,
"cdna_start": 909,
"cds_end": null,
"cds_length": 1416,
"cds_start": 896,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000964967.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.896C>T",
"hgvs_p": "p.Ala299Val",
"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": "V",
"aa_end": null,
"aa_length": 469,
"aa_ref": "A",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3439,
"cdna_start": 1031,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1019,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000964959.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1019C>T",
"hgvs_p": "p.Ala340Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635018.1",
"strand": false,
"transcript": "ENST00000964959.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 463,
"aa_ref": "A",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3421,
"cdna_start": 1085,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1070,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000964960.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1070C>T",
"hgvs_p": "p.Ala357Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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