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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: 1-231272345-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=231272345&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GNPAT",
"hgnc_id": 4416,
"hgvs_c": "c.1556A>C",
"hgvs_p": "p.Asp519Ala",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_014236.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1035,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1687079668045044,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 680,
"aa_ref": "D",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2641,
"cdna_start": 1723,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1556,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_014236.4",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.1556A>C",
"hgvs_p": "p.Asp519Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000366647.9",
"protein_coding": true,
"protein_id": "NP_055051.1",
"strand": true,
"transcript": "NM_014236.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 680,
"aa_ref": "D",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2641,
"cdna_start": 1723,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1556,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000366647.9",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.1556A>C",
"hgvs_p": "p.Asp519Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014236.4",
"protein_coding": true,
"protein_id": "ENSP00000355607.4",
"strand": true,
"transcript": "ENST00000366647.9",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 691,
"aa_ref": "D",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2500,
"cdna_start": 1763,
"cds_end": null,
"cds_length": 2076,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000851685.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.1589A>C",
"hgvs_p": "p.Asp530Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521744.1",
"strand": true,
"transcript": "ENST00000851685.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 686,
"aa_ref": "D",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2473,
"cdna_start": 1725,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1556,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000926541.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.1556A>C",
"hgvs_p": "p.Asp519Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596600.1",
"strand": true,
"transcript": "ENST00000926541.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 679,
"aa_ref": "D",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2653,
"cdna_start": 1736,
"cds_end": null,
"cds_length": 2040,
"cds_start": 1553,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000851681.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.1553A>C",
"hgvs_p": "p.Asp518Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521740.1",
"strand": true,
"transcript": "ENST00000851681.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 677,
"aa_ref": "D",
"aa_start": 516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2453,
"cdna_start": 1719,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1547,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000958394.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.1547A>C",
"hgvs_p": "p.Asp516Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628453.1",
"strand": true,
"transcript": "ENST00000958394.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 674,
"aa_ref": "D",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2356,
"cdna_start": 1630,
"cds_end": null,
"cds_length": 2025,
"cds_start": 1538,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000851692.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.1538A>C",
"hgvs_p": "p.Asp513Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521751.1",
"strand": true,
"transcript": "ENST00000851692.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 669,
"aa_ref": "D",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2439,
"cdna_start": 1697,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1523,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000851683.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.1523A>C",
"hgvs_p": "p.Asp508Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521742.1",
"strand": true,
"transcript": "ENST00000851683.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 656,
"aa_ref": "D",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2386,
"cdna_start": 1650,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1484,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000851688.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.1484A>C",
"hgvs_p": "p.Asp495Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521747.1",
"strand": true,
"transcript": "ENST00000851688.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 644,
"aa_ref": "D",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2347,
"cdna_start": 1615,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1448,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000926542.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.1448A>C",
"hgvs_p": "p.Asp483Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596601.1",
"strand": true,
"transcript": "ENST00000926542.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 637,
"aa_ref": "D",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2305,
"cdna_start": 1572,
"cds_end": null,
"cds_length": 1914,
"cds_start": 1427,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000958399.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.1427A>C",
"hgvs_p": "p.Asp476Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628458.1",
"strand": true,
"transcript": "ENST00000958399.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 636,
"aa_ref": "D",
"aa_start": 475,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2311,
"cdna_start": 1580,
"cds_end": null,
"cds_length": 1911,
"cds_start": 1424,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000958398.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.1424A>C",
"hgvs_p": "p.Asp475Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628457.1",
"strand": true,
"transcript": "ENST00000958398.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 634,
"aa_ref": "D",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2312,
"cdna_start": 1574,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000851690.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.1418A>C",
"hgvs_p": "p.Asp473Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521749.1",
"strand": true,
"transcript": "ENST00000851690.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 633,
"aa_ref": "D",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2322,
"cdna_start": 1575,
"cds_end": null,
"cds_length": 1902,
"cds_start": 1415,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000851686.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.1415A>C",
"hgvs_p": "p.Asp472Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521745.1",
"strand": true,
"transcript": "ENST00000851686.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 627,
"aa_ref": "D",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2293,
"cdna_start": 1557,
"cds_end": null,
"cds_length": 1884,
"cds_start": 1397,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000851689.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.1397A>C",
"hgvs_p": "p.Asp466Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521748.1",
"strand": true,
"transcript": "ENST00000851689.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 627,
"aa_ref": "D",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2297,
"cdna_start": 1559,
"cds_end": null,
"cds_length": 1884,
"cds_start": 1397,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000958396.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.1397A>C",
"hgvs_p": "p.Asp466Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628455.1",
"strand": true,
"transcript": "ENST00000958396.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 619,
"aa_ref": "D",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2458,
"cdna_start": 1540,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1373,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001316350.2",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.1373A>C",
"hgvs_p": "p.Asp458Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001303279.1",
"strand": true,
"transcript": "NM_001316350.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 612,
"aa_ref": "D",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2364,
"cdna_start": 1528,
"cds_end": null,
"cds_length": 1839,
"cds_start": 1352,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000926540.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.1352A>C",
"hgvs_p": "p.Asp451Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596599.1",
"strand": true,
"transcript": "ENST00000926540.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 609,
"aa_ref": "D",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2254,
"cdna_start": 1517,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000851684.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.1343A>C",
"hgvs_p": "p.Asp448Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521743.1",
"strand": true,
"transcript": "ENST00000851684.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 604,
"aa_ref": "D",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2221,
"cdna_start": 1490,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1328,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000851691.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.1328A>C",
"hgvs_p": "p.Asp443Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521750.1",
"strand": true,
"transcript": "ENST00000851691.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 599,
"aa_ref": "D",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2216,
"cdna_start": 1478,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1313,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000958395.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.1313A>C",
"hgvs_p": "p.Asp438Ala",
"intron_rank": null,
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