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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: 13-100368504-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=100368504&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "PCCA",
"hgnc_id": 8653,
"hgvs_c": "c.1676G>A",
"hgvs_p": "p.Trp559*",
"inheritance_mode": "AR",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_000282.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_score": 10,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.6,
"chr": "13",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6000000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 728,
"aa_ref": "W",
"aa_start": 559,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2484,
"cdna_start": 1704,
"cds_end": null,
"cds_length": 2187,
"cds_start": 1676,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_000282.4",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.1676G>A",
"hgvs_p": "p.Trp559*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000376285.6",
"protein_coding": true,
"protein_id": "NP_000273.2",
"strand": true,
"transcript": "NM_000282.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 728,
"aa_ref": "W",
"aa_start": 559,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2484,
"cdna_start": 1704,
"cds_end": null,
"cds_length": 2187,
"cds_start": 1676,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000376285.6",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.1676G>A",
"hgvs_p": "p.Trp559*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000282.4",
"protein_coding": true,
"protein_id": "ENSP00000365462.1",
"strand": true,
"transcript": "ENST00000376285.6",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 769,
"aa_ref": "W",
"aa_start": 600,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2604,
"cdna_start": 1824,
"cds_end": null,
"cds_length": 2310,
"cds_start": 1799,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000881637.1",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.1799G>A",
"hgvs_p": "p.Trp600*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551696.1",
"strand": true,
"transcript": "ENST00000881637.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 763,
"aa_ref": "W",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2586,
"cdna_start": 1809,
"cds_end": null,
"cds_length": 2292,
"cds_start": 1781,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000881640.1",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.1781G>A",
"hgvs_p": "p.Trp594*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551699.1",
"strand": true,
"transcript": "ENST00000881640.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 762,
"aa_ref": "W",
"aa_start": 559,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2577,
"cdna_start": 1699,
"cds_end": null,
"cds_length": 2289,
"cds_start": 1676,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000956821.1",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.1676G>A",
"hgvs_p": "p.Trp559*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626880.1",
"strand": true,
"transcript": "ENST00000956821.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 758,
"aa_ref": "W",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2550,
"cdna_start": 1774,
"cds_end": null,
"cds_length": 2277,
"cds_start": 1766,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000881647.1",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.1766G>A",
"hgvs_p": "p.Trp589*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551706.1",
"strand": true,
"transcript": "ENST00000881647.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 753,
"aa_ref": "W",
"aa_start": 584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2559,
"cdna_start": 1779,
"cds_end": null,
"cds_length": 2262,
"cds_start": 1751,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000881631.1",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.1751G>A",
"hgvs_p": "p.Trp584*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551690.1",
"strand": true,
"transcript": "ENST00000881631.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 738,
"aa_ref": "W",
"aa_start": 600,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2492,
"cdna_start": 1809,
"cds_end": null,
"cds_length": 2217,
"cds_start": 1799,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000881644.1",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.1799G>A",
"hgvs_p": "p.Trp600*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551703.1",
"strand": true,
"transcript": "ENST00000881644.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 726,
"aa_ref": "W",
"aa_start": 559,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2453,
"cdna_start": 1682,
"cds_end": null,
"cds_length": 2181,
"cds_start": 1676,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000940854.1",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.1676G>A",
"hgvs_p": "p.Trp559*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610913.1",
"strand": true,
"transcript": "ENST00000940854.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 724,
"aa_ref": "W",
"aa_start": 555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2469,
"cdna_start": 1689,
"cds_end": null,
"cds_length": 2175,
"cds_start": 1664,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000881635.1",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.1664G>A",
"hgvs_p": "p.Trp555*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551694.1",
"strand": true,
"transcript": "ENST00000881635.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 710,
"aa_ref": "W",
"aa_start": 559,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2430,
"cdna_start": 1704,
"cds_end": null,
"cds_length": 2133,
"cds_start": 1676,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001352605.2",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.1676G>A",
"hgvs_p": "p.Trp559*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339534.1",
"strand": true,
"transcript": "NM_001352605.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 710,
"aa_ref": "W",
"aa_start": 559,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2460,
"cdna_start": 1734,
"cds_end": null,
"cds_length": 2133,
"cds_start": 1676,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000881625.1",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.1676G>A",
"hgvs_p": "p.Trp559*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551684.1",
"strand": true,
"transcript": "ENST00000881625.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 710,
"aa_ref": "W",
"aa_start": 541,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2409,
"cdna_start": 1632,
"cds_end": null,
"cds_length": 2133,
"cds_start": 1622,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000956823.1",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.1622G>A",
"hgvs_p": "p.Trp541*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626882.1",
"strand": true,
"transcript": "ENST00000956823.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 705,
"aa_ref": "W",
"aa_start": 536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2387,
"cdna_start": 1611,
"cds_end": null,
"cds_length": 2118,
"cds_start": 1607,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000956827.1",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.1607G>A",
"hgvs_p": "p.Trp536*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626886.1",
"strand": true,
"transcript": "ENST00000956827.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 702,
"aa_ref": "W",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2406,
"cdna_start": 1626,
"cds_end": null,
"cds_length": 2109,
"cds_start": 1598,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001127692.3",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.1598G>A",
"hgvs_p": "p.Trp533*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121164.1",
"strand": true,
"transcript": "NM_001127692.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 702,
"aa_ref": "W",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2481,
"cdna_start": 1704,
"cds_end": null,
"cds_length": 2109,
"cds_start": 1598,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000376286.8",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.1598G>A",
"hgvs_p": "p.Trp533*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365463.4",
"strand": true,
"transcript": "ENST00000376286.8",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 697,
"aa_ref": "W",
"aa_start": 559,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2388,
"cdna_start": 1704,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1676,
"consequences": [
"stop_gained"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000881634.1",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.1676G>A",
"hgvs_p": "p.Trp559*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551693.1",
"strand": true,
"transcript": "ENST00000881634.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 695,
"aa_ref": "W",
"aa_start": 559,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2395,
"cdna_start": 1714,
"cds_end": null,
"cds_length": 2088,
"cds_start": 1676,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000881627.1",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.1676G>A",
"hgvs_p": "p.Trp559*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551686.1",
"strand": true,
"transcript": "ENST00000881627.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 691,
"aa_ref": "W",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2351,
"cdna_start": 1575,
"cds_end": null,
"cds_length": 2076,
"cds_start": 1565,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000881645.1",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.1565G>A",
"hgvs_p": "p.Trp522*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551704.1",
"strand": true,
"transcript": "ENST00000881645.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 689,
"aa_ref": "W",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2364,
"cdna_start": 1587,
"cds_end": null,
"cds_length": 2070,
"cds_start": 1559,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000881638.1",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.1559G>A",
"hgvs_p": "p.Trp520*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551697.1",
"strand": true,
"transcript": "ENST00000881638.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 689,
"aa_ref": "W",
"aa_start": 486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2342,
"cdna_start": 1462,
"cds_end": null,
"cds_length": 2070,
"cds_start": 1457,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000956825.1",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Trp486*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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