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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: 11-34960443-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=34960443&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PDHX",
"hgnc_id": 21350,
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Arg189His",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_003477.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 1906,
"alphamissense_prediction": null,
"alphamissense_score": 0.1631,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.17,
"chr": "11",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.010239779949188232,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 501,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2500,
"cdna_start": 604,
"cds_end": null,
"cds_length": 1506,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_003477.3",
"gene_hgnc_id": 21350,
"gene_symbol": "PDHX",
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Arg189His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000227868.9",
"protein_coding": true,
"protein_id": "NP_003468.2",
"strand": true,
"transcript": "NM_003477.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 501,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2500,
"cdna_start": 604,
"cds_end": null,
"cds_length": 1506,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000227868.9",
"gene_hgnc_id": 21350,
"gene_symbol": "PDHX",
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Arg189His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003477.3",
"protein_coding": true,
"protein_id": "ENSP00000227868.4",
"strand": true,
"transcript": "ENST00000227868.9",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 548,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2466,
"cdna_start": 588,
"cds_end": null,
"cds_length": 1647,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000885501.1",
"gene_hgnc_id": 21350,
"gene_symbol": "PDHX",
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Arg189His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555560.1",
"strand": true,
"transcript": "ENST00000885501.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2342,
"cdna_start": 584,
"cds_end": null,
"cds_length": 1527,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000952507.1",
"gene_hgnc_id": 21350,
"gene_symbol": "PDHX",
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Arg189His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622566.1",
"strand": true,
"transcript": "ENST00000952507.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 507,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2347,
"cdna_start": 588,
"cds_end": null,
"cds_length": 1524,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000952504.1",
"gene_hgnc_id": 21350,
"gene_symbol": "PDHX",
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Arg189His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622563.1",
"strand": true,
"transcript": "ENST00000952504.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 502,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2344,
"cdna_start": 604,
"cds_end": null,
"cds_length": 1509,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000885499.1",
"gene_hgnc_id": 21350,
"gene_symbol": "PDHX",
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Arg189His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555558.1",
"strand": true,
"transcript": "ENST00000885499.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 500,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2428,
"cdna_start": 604,
"cds_end": null,
"cds_length": 1503,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000885497.1",
"gene_hgnc_id": 21350,
"gene_symbol": "PDHX",
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Arg189His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555556.1",
"strand": true,
"transcript": "ENST00000885497.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 500,
"aa_ref": "R",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2341,
"cdna_start": 601,
"cds_end": null,
"cds_length": 1503,
"cds_start": 563,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000885498.1",
"gene_hgnc_id": 21350,
"gene_symbol": "PDHX",
"hgvs_c": "c.563G>A",
"hgvs_p": "p.Arg188His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555557.1",
"strand": true,
"transcript": "ENST00000885498.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 499,
"aa_ref": "R",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2334,
"cdna_start": 593,
"cds_end": null,
"cds_length": 1500,
"cds_start": 560,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000952503.1",
"gene_hgnc_id": 21350,
"gene_symbol": "PDHX",
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Arg187His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622562.1",
"strand": true,
"transcript": "ENST00000952503.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 458,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2198,
"cdna_start": 592,
"cds_end": null,
"cds_length": 1377,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000952505.1",
"gene_hgnc_id": 21350,
"gene_symbol": "PDHX",
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Arg189His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622564.1",
"strand": true,
"transcript": "ENST00000952505.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 448,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2165,
"cdna_start": 584,
"cds_end": null,
"cds_length": 1347,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000952506.1",
"gene_hgnc_id": 21350,
"gene_symbol": "PDHX",
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Arg189His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622565.1",
"strand": true,
"transcript": "ENST00000952506.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 441,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2351,
"cdna_start": 455,
"cds_end": null,
"cds_length": 1326,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001135024.2",
"gene_hgnc_id": 21350,
"gene_symbol": "PDHX",
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001128496.2",
"strand": true,
"transcript": "NM_001135024.2",
"transcript_support_level": null
},
{
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"aa_length": 441,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2659,
"cdna_start": 763,
"cds_end": null,
"cds_length": 1326,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000448838.8",
"gene_hgnc_id": 21350,
"gene_symbol": "PDHX",
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389404.3",
"strand": true,
"transcript": "ENST00000448838.8",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 181,
"aa_ref": "R",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 561,
"cdna_start": 500,
"cds_end": null,
"cds_length": 546,
"cds_start": 485,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000533262.1",
"gene_hgnc_id": 21350,
"gene_symbol": "PDHX",
"hgvs_c": "c.485G>A",
"hgvs_p": "p.Arg162His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432277.1",
"strand": true,
"transcript": "ENST00000533262.1",
"transcript_support_level": 4
},
{
"aa_alt": "H",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 584,
"cdna_start": 516,
"cds_end": null,
"cds_length": 454,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000533550.5",
"gene_hgnc_id": 21350,
"gene_symbol": "PDHX",
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431281.1",
"strand": true,
"transcript": "ENST00000533550.5",
"transcript_support_level": 4
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 441,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2321,
"cdna_start": 425,
"cds_end": null,
"cds_length": 1326,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011520390.2",
"gene_hgnc_id": 21350,
"gene_symbol": "PDHX",
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011518692.1",
"strand": true,
"transcript": "XM_011520390.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 468,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2362,
"cdna_start": null,
"cds_end": null,
"cds_length": 1407,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952501.1",
"gene_hgnc_id": 21350,
"gene_symbol": "PDHX",
"hgvs_c": "c.542+2860G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622560.1",
"strand": true,
"transcript": "ENST00000952501.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 343,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1854,
"cdna_start": null,
"cds_end": null,
"cds_length": 1032,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885500.1",
"gene_hgnc_id": 21350,
"gene_symbol": "PDHX",
"hgvs_c": "c.343-9696G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555559.1",
"strand": true,
"transcript": "ENST00000885500.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 274,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1819,
"cdna_start": null,
"cds_end": null,
"cds_length": 825,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001166158.2",
"gene_hgnc_id": 21350,
"gene_symbol": "PDHX",
"hgvs_c": "c.342+12837G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159630.1",
"strand": true,
"transcript": "NM_001166158.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 274,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 952,
"cdna_start": null,
"cds_end": null,
"cds_length": 825,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000430469.6",
"gene_hgnc_id": 21350,
"gene_symbol": "PDHX",
"hgvs_c": "c.342+12837G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415695.2",
"strand": true,
"transcript": "ENST00000430469.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 272,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1711,
"cdna_start": null,
"cds_end": null,
"cds_length": 819,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952502.1",
"gene_hgnc_id": 21350,
"gene_symbol": "PDHX",
"hgvs_c": "c.336+12837G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
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]
}