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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: 19-40844759-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=40844759&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 40844759,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000762.6",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "F",
"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": "CYP2A6",
"gene_hgnc_id": 2610,
"hgvs_c": "c.1175A>T",
"hgvs_p": "p.Tyr392Phe",
"transcript": "NM_000762.6",
"protein_id": "NP_000753.3",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 494,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000301141.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000762.6"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": true,
"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": "CYP2A6",
"gene_hgnc_id": 2610,
"hgvs_c": "c.1175A>T",
"hgvs_p": "p.Tyr392Phe",
"transcript": "ENST00000301141.10",
"protein_id": "ENSP00000301141.4",
"transcript_support_level": 1,
"aa_start": 392,
"aa_end": null,
"aa_length": 494,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000762.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301141.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268797",
"gene_hgnc_id": null,
"hgvs_c": "n.117+43344T>A",
"hgvs_p": null,
"transcript": "ENST00000601627.1",
"protein_id": "ENSP00000469533.1",
"transcript_support_level": 3,
"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": "ENST00000601627.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"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": "CYP2A6",
"gene_hgnc_id": 2610,
"hgvs_c": "c.1265A>T",
"hgvs_p": "p.Tyr422Phe",
"transcript": "ENST00000874215.1",
"protein_id": "ENSP00000544274.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 524,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874215.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"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": "CYP2A6",
"gene_hgnc_id": 2610,
"hgvs_c": "c.1229A>T",
"hgvs_p": "p.Tyr410Phe",
"transcript": "ENST00000874216.1",
"protein_id": "ENSP00000544275.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 512,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874216.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"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": "CYP2A6",
"gene_hgnc_id": 2610,
"hgvs_c": "c.1172A>T",
"hgvs_p": "p.Tyr391Phe",
"transcript": "ENST00000874218.1",
"protein_id": "ENSP00000544277.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 493,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874218.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"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": "CYP2A6",
"gene_hgnc_id": 2610,
"hgvs_c": "c.1172A>T",
"hgvs_p": "p.Tyr391Phe",
"transcript": "ENST00000874222.1",
"protein_id": "ENSP00000544281.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 493,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874222.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"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": "CYP2A6",
"gene_hgnc_id": 2610,
"hgvs_c": "c.1166A>T",
"hgvs_p": "p.Tyr389Phe",
"transcript": "ENST00000874220.1",
"protein_id": "ENSP00000544279.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 491,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874220.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"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": "CYP2A6",
"gene_hgnc_id": 2610,
"hgvs_c": "c.1175A>T",
"hgvs_p": "p.Tyr392Phe",
"transcript": "ENST00000874219.1",
"protein_id": "ENSP00000544278.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 485,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874219.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"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": "CYP2A6",
"gene_hgnc_id": 2610,
"hgvs_c": "c.1097A>T",
"hgvs_p": "p.Tyr366Phe",
"transcript": "ENST00000874214.1",
"protein_id": "ENSP00000544273.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 468,
"cds_start": 1097,
"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": "ENST00000874214.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2A6",
"gene_hgnc_id": 2610,
"hgvs_c": "c.1025A>T",
"hgvs_p": "p.Tyr342Phe",
"transcript": "ENST00000874221.1",
"protein_id": "ENSP00000544280.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 444,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874221.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2A6",
"gene_hgnc_id": 2610,
"hgvs_c": "c.998A>T",
"hgvs_p": "p.Tyr333Phe",
"transcript": "ENST00000874217.1",
"protein_id": "ENSP00000544276.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 435,
"cds_start": 998,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874217.1"
},
{
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CYP2A6",
"gene_hgnc_id": 2610,
"hgvs_c": "c.1162-53A>T",
"hgvs_p": null,
"transcript": "ENST00000874213.1",
"protein_id": "ENSP00000544272.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 472,
"cds_start": null,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874213.1"
},
{
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CYP2A6",
"gene_hgnc_id": 2610,
"hgvs_c": "c.1162-68A>T",
"hgvs_p": null,
"transcript": "ENST00000874223.1",
"protein_id": "ENSP00000544282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 467,
"cds_start": null,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874223.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2A6",
"gene_hgnc_id": 2610,
"hgvs_c": "n.94A>T",
"hgvs_p": null,
"transcript": "ENST00000599960.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000599960.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2A6",
"gene_hgnc_id": 2610,
"hgvs_c": "n.*163A>T",
"hgvs_p": null,
"transcript": "ENST00000596719.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000596719.5"
}
],
"gene_symbol": "CYP2A6",
"gene_hgnc_id": 2610,
"dbsnp": "rs1809810",
"frequency_reference_population": 0.0127284555,
"hom_count_reference_population": 454,
"allele_count_reference_population": 20428,
"gnomad_exomes_af": 0.0128043,
"gnomad_genomes_af": 0.0119994,
"gnomad_exomes_ac": 18613,
"gnomad_genomes_ac": 1815,
"gnomad_exomes_homalt": 424,
"gnomad_genomes_homalt": 30,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02219364047050476,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.0772,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.055,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000762.6",
"gene_symbol": "CYP2A6",
"hgnc_id": 2610,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1175A>T",
"hgvs_p": "p.Tyr392Phe"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000601627.1",
"gene_symbol": "ENSG00000268797",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.117+43344T>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}