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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: 15-78629283-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=78629283&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 78629283,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000750.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.1022T>A",
"hgvs_p": "p.Leu341Gln",
"transcript": "NM_000750.5",
"protein_id": "NP_000741.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 498,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261751.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000750.5"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.1022T>A",
"hgvs_p": "p.Leu341Gln",
"transcript": "ENST00000261751.8",
"protein_id": "ENSP00000261751.3",
"transcript_support_level": 1,
"aa_start": 341,
"aa_end": null,
"aa_length": 498,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000750.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261751.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.359+1793T>A",
"hgvs_p": null,
"transcript": "ENST00000412074.6",
"protein_id": "ENSP00000416386.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 231,
"cds_start": null,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412074.6"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.1022T>A",
"hgvs_p": "p.Leu341Gln",
"transcript": "ENST00000929174.1",
"protein_id": "ENSP00000599233.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 498,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929174.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.1013T>A",
"hgvs_p": "p.Leu338Gln",
"transcript": "XM_011521186.3",
"protein_id": "XP_011519488.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 495,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521186.3"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.1013T>A",
"hgvs_p": "p.Leu338Gln",
"transcript": "XM_011521187.3",
"protein_id": "XP_011519489.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 495,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521187.3"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.932T>A",
"hgvs_p": "p.Leu311Gln",
"transcript": "XM_017021885.2",
"protein_id": "XP_016877374.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 468,
"cds_start": 932,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021885.2"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.932T>A",
"hgvs_p": "p.Leu311Gln",
"transcript": "XM_017021886.2",
"protein_id": "XP_016877375.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 468,
"cds_start": 932,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021886.2"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.1022T>A",
"hgvs_p": "p.Leu341Gln",
"transcript": "XM_017021887.2",
"protein_id": "XP_016877376.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 463,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021887.2"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.1022T>A",
"hgvs_p": "p.Leu341Gln",
"transcript": "XM_017021888.2",
"protein_id": "XP_016877377.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 462,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021888.2"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.1022T>A",
"hgvs_p": "p.Leu341Gln",
"transcript": "XM_017021889.3",
"protein_id": "XP_016877378.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 449,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021889.3"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.800T>A",
"hgvs_p": "p.Leu267Gln",
"transcript": "XM_011521190.3",
"protein_id": "XP_011519492.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 424,
"cds_start": 800,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521190.3"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.800T>A",
"hgvs_p": "p.Leu267Gln",
"transcript": "XM_011521191.3",
"protein_id": "XP_011519493.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 424,
"cds_start": 800,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521191.3"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.476T>A",
"hgvs_p": "p.Leu159Gln",
"transcript": "XM_011521192.3",
"protein_id": "XP_011519494.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 316,
"cds_start": 476,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521192.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.359+1793T>A",
"hgvs_p": null,
"transcript": "NM_001256567.3",
"protein_id": "NP_001243496.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 231,
"cds_start": null,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256567.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "c.393+1645T>A",
"hgvs_p": null,
"transcript": "ENST00000929175.1",
"protein_id": "ENSP00000599234.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 183,
"cds_start": null,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929175.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259555",
"gene_hgnc_id": null,
"hgvs_c": "n.312+1718A>T",
"hgvs_p": null,
"transcript": "ENST00000821537.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000821537.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"hgvs_c": "n.*1078T>A",
"hgvs_p": null,
"transcript": "ENST00000559849.5",
"protein_id": "ENSP00000457404.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000559849.5"
}
],
"gene_symbol": "CHRNB4",
"gene_hgnc_id": 1964,
"dbsnp": "rs751869707",
"frequency_reference_population": 0.00001053699,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000109497,
"gnomad_genomes_af": 0.00000657315,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9742203950881958,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.96,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9065,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.44,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.262,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong,BS2_Supporting",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 1,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong",
"BS2_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000750.5",
"gene_symbol": "CHRNB4",
"hgnc_id": 1964,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1022T>A",
"hgvs_p": "p.Leu341Gln"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000821537.1",
"gene_symbol": "ENSG00000259555",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.312+1718A>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}