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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: 8-142876242-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=142876242&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "CYP11B1",
"hgnc_id": 2591,
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Thr318Met",
"inheritance_mode": "AR,AD",
"pathogenic_score": 21,
"score": 21,
"transcript": "NM_000497.4",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "GML",
"hgnc_id": 4375,
"hgvs_c": "c.181+35017G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 18,
"score": 18,
"transcript": "ENST00000522728.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM5,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_score": 21,
"allele_count_reference_population": 16,
"alphamissense_prediction": null,
"alphamissense_score": 0.4151,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.36,
"chr": "8",
"clinvar_classification": "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:5",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9925391674041748,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 503,
"aa_ref": "T",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3540,
"cdna_start": 965,
"cds_end": null,
"cds_length": 1512,
"cds_start": 953,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_000497.4",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Thr318Met",
"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": "M",
"aa_end": null,
"aa_length": 503,
"aa_ref": "T",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3540,
"cdna_start": 965,
"cds_end": null,
"cds_length": 1512,
"cds_start": 953,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000292427.10",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Thr318Met",
"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": "M",
"aa_end": null,
"aa_length": 574,
"aa_ref": "T",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2280,
"cdna_start": 1173,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1166,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000377675.3",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1166C>T",
"hgvs_p": "p.Thr389Met",
"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": "M",
"aa_end": null,
"aa_length": 437,
"aa_ref": "T",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1874,
"cdna_start": 964,
"cds_end": null,
"cds_length": 1314,
"cds_start": 953,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000517471.5",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Thr318Met",
"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": "M",
"aa_end": null,
"aa_length": 549,
"aa_ref": "T",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3327,
"cdna_start": 1103,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1091,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000964974.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1091C>T",
"hgvs_p": "p.Thr364Met",
"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": "M",
"aa_end": null,
"aa_length": 548,
"aa_ref": "T",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3849,
"cdna_start": 1275,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1088,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000964956.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1088C>T",
"hgvs_p": "p.Thr363Met",
"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": "M",
"aa_end": null,
"aa_length": 529,
"aa_ref": "T",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4493,
"cdna_start": 1089,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1031,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000964955.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1031C>T",
"hgvs_p": "p.Thr344Met",
"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": "M",
"aa_end": null,
"aa_length": 505,
"aa_ref": "T",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3543,
"cdna_start": 1101,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1088,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000964962.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1088C>T",
"hgvs_p": "p.Thr363Met",
"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": "M",
"aa_end": null,
"aa_length": 497,
"aa_ref": "T",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3166,
"cdna_start": 963,
"cds_end": null,
"cds_length": 1494,
"cds_start": 953,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000964975.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Thr318Met",
"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": "M",
"aa_end": null,
"aa_length": 483,
"aa_ref": "T",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2039,
"cdna_start": 1103,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1091,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000964976.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1091C>T",
"hgvs_p": "p.Thr364Met",
"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": "M",
"aa_end": null,
"aa_length": 482,
"aa_ref": "T",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3474,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1088,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000964964.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1088C>T",
"hgvs_p": "p.Thr363Met",
"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": "M",
"aa_end": null,
"aa_length": 473,
"aa_ref": "T",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3447,
"cdna_start": 878,
"cds_end": null,
"cds_length": 1422,
"cds_start": 863,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000964963.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Thr288Met",
"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": "M",
"aa_end": null,
"aa_length": 471,
"aa_ref": "T",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3438,
"cdna_start": 870,
"cds_end": null,
"cds_length": 1416,
"cds_start": 857,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000964967.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.857C>T",
"hgvs_p": "p.Thr286Met",
"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": "M",
"aa_end": null,
"aa_length": 463,
"aa_ref": "T",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3421,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1031,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000964960.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.1031C>T",
"hgvs_p": "p.Thr344Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635019.1",
"strand": false,
"transcript": "ENST00000964960.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 460,
"aa_ref": "T",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4292,
"cdna_start": 1025,
"cds_end": null,
"cds_length": 1383,
"cds_start": 953,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000964954.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Thr318Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635013.1",
"strand": false,
"transcript": "ENST00000964954.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 458,
"aa_ref": "T",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3405,
"cdna_start": 829,
"cds_end": null,
"cds_length": 1377,
"cds_start": 818,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000964961.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.818C>T",
"hgvs_p": "p.Thr273Met",
"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": "M",
"aa_end": null,
"aa_length": 451,
"aa_ref": "T",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3410,
"cdna_start": 840,
"cds_end": null,
"cds_length": 1356,
"cds_start": 797,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000964958.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.797C>T",
"hgvs_p": "p.Thr266Met",
"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": "M",
"aa_end": null,
"aa_length": 437,
"aa_ref": "T",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3337,
"cdna_start": 960,
"cds_end": null,
"cds_length": 1314,
"cds_start": 953,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001026213.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Thr318Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001021384.1",
"strand": false,
"transcript": "NM_001026213.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 435,
"aa_ref": "T",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3065,
"cdna_start": 758,
"cds_end": null,
"cds_length": 1308,
"cds_start": 749,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000964971.1",
"gene_hgnc_id": 2591,
"gene_symbol": "CYP11B1",
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Thr250Met",
"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": "M",
"aa_end": null,
"aa_length": 405,
"aa_ref": "T",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3242,
"cdna_start": 871,
"cds_end": null,
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