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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: 15-72351198-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=72351198&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HEXA",
"hgnc_id": 4878,
"hgvs_c": "c.640T>G",
"hgvs_p": "p.Trp214Gly",
"inheritance_mode": "AR",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_001318825.2",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000260729",
"hgnc_id": null,
"hgvs_c": "n.412+4361T>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 8,
"score": 8,
"transcript": "ENST00000379915.4",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "CELF6-AS1",
"hgnc_id": 58304,
"hgvs_c": "n.2552A>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 8,
"score": 8,
"transcript": "ENST00000570175.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong,PP5_Moderate",
"acmg_score": 10,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.9569,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.6,
"chr": "15",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Tay-Sachs disease",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9917847514152527,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 529,
"aa_ref": "W",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4785,
"cdna_start": 649,
"cds_end": null,
"cds_length": 1590,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_000520.6",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.607T>G",
"hgvs_p": "p.Trp203Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000268097.10",
"protein_coding": true,
"protein_id": "NP_000511.2",
"strand": false,
"transcript": "NM_000520.6",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 529,
"aa_ref": "W",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4785,
"cdna_start": 649,
"cds_end": null,
"cds_length": 1590,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000268097.10",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.607T>G",
"hgvs_p": "p.Trp203Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000520.6",
"protein_coding": true,
"protein_id": "ENSP00000268097.6",
"strand": false,
"transcript": "ENST00000268097.10",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 509,
"aa_ref": "W",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1582,
"cdna_start": 628,
"cds_end": null,
"cds_length": 1530,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000567159.5",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.607T>G",
"hgvs_p": "p.Trp203Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456489.1",
"strand": false,
"transcript": "ENST00000567159.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3148,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000570175.1",
"gene_hgnc_id": 58304,
"gene_symbol": "CELF6-AS1",
"hgvs_c": "n.2552A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000570175.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 4374,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000379915.4",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000260729",
"hgvs_c": "n.412+4361T>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000478716.1",
"strand": false,
"transcript": "ENST00000379915.4",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 546,
"aa_ref": "W",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1841,
"cdna_start": 666,
"cds_end": null,
"cds_length": 1641,
"cds_start": 658,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000861848.1",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.658T>G",
"hgvs_p": "p.Trp220Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531907.1",
"strand": false,
"transcript": "ENST00000861848.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 540,
"aa_ref": "W",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4818,
"cdna_start": 682,
"cds_end": null,
"cds_length": 1623,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001318825.2",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.640T>G",
"hgvs_p": "p.Trp214Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305754.1",
"strand": false,
"transcript": "NM_001318825.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 540,
"aa_ref": "W",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1795,
"cdna_start": 661,
"cds_end": null,
"cds_length": 1623,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000566304.5",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.640T>G",
"hgvs_p": "p.Trp214Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455114.1",
"strand": false,
"transcript": "ENST00000566304.5",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 535,
"aa_ref": "W",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1818,
"cdna_start": 646,
"cds_end": null,
"cds_length": 1608,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000966316.1",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.625T>G",
"hgvs_p": "p.Trp209Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636375.1",
"strand": false,
"transcript": "ENST00000966316.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 527,
"aa_ref": "W",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1962,
"cdna_start": 628,
"cds_end": null,
"cds_length": 1584,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000861842.1",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.607T>G",
"hgvs_p": "p.Trp203Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531901.1",
"strand": false,
"transcript": "ENST00000861842.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 516,
"aa_ref": "W",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1782,
"cdna_start": 646,
"cds_end": null,
"cds_length": 1551,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000861845.1",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.607T>G",
"hgvs_p": "p.Trp203Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531904.1",
"strand": false,
"transcript": "ENST00000861845.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 514,
"aa_ref": "W",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1743,
"cdna_start": 576,
"cds_end": null,
"cds_length": 1545,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000966317.1",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.562T>G",
"hgvs_p": "p.Trp188Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636376.1",
"strand": false,
"transcript": "ENST00000966317.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 500,
"aa_ref": "W",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2168,
"cdna_start": 628,
"cds_end": null,
"cds_length": 1503,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000966315.1",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.607T>G",
"hgvs_p": "p.Trp203Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636374.1",
"strand": false,
"transcript": "ENST00000966315.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 498,
"aa_ref": "W",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1744,
"cdna_start": 541,
"cds_end": null,
"cds_length": 1497,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000861843.1",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.514T>G",
"hgvs_p": "p.Trp172Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531902.1",
"strand": false,
"transcript": "ENST00000861843.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 492,
"aa_ref": "W",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2147,
"cdna_start": 521,
"cds_end": null,
"cds_length": 1479,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000966314.1",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.496T>G",
"hgvs_p": "p.Trp166Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636373.1",
"strand": false,
"transcript": "ENST00000966314.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 476,
"aa_ref": "W",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2122,
"cdna_start": 495,
"cds_end": null,
"cds_length": 1431,
"cds_start": 448,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000861840.1",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.448T>G",
"hgvs_p": "p.Trp150Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531899.1",
"strand": false,
"transcript": "ENST00000861840.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 474,
"aa_ref": "W",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2451,
"cdna_start": 644,
"cds_end": null,
"cds_length": 1425,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000684520.1",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.607T>G",
"hgvs_p": "p.Trp203Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506826.1",
"strand": false,
"transcript": "ENST00000684520.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 390,
"aa_ref": "W",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2233,
"cdna_start": 638,
"cds_end": null,
"cds_length": 1173,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000683884.1",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.607T>G",
"hgvs_p": "p.Trp203Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507004.1",
"strand": false,
"transcript": "ENST00000683884.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 495,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1715,
"cdna_start": null,
"cds_end": null,
"cds_length": 1488,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861846.1",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.571-548T>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531905.1",
"strand": false,
"transcript": "ENST00000861846.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 409,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1428,
"cdna_start": null,
"cds_end": null,
"cds_length": 1230,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000966318.1",
"gene_hgnc_id": 4878,
"gene_symbol": "HEXA",
"hgvs_c": "c.446-1939T>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
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