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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: 15-74753234-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=74753234&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CYP1A2",
"hgnc_id": 2596,
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Cys406Tyr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_000761.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_score": -4,
"allele_count_reference_population": 148,
"alphamissense_prediction": "Uncertain_significance",
"alphamissense_score": 0.5472,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5224462747573853,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 516,
"aa_ref": "C",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3132,
"cdna_start": 1279,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1217,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_000761.5",
"gene_hgnc_id": 2596,
"gene_symbol": "CYP1A2",
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Cys406Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000343932.5",
"protein_coding": true,
"protein_id": "NP_000752.2",
"strand": true,
"transcript": "NM_000761.5",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 516,
"aa_ref": "C",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3132,
"cdna_start": 1279,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1217,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000343932.5",
"gene_hgnc_id": 2596,
"gene_symbol": "CYP1A2",
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Cys406Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000761.5",
"protein_coding": true,
"protein_id": "ENSP00000342007.4",
"strand": true,
"transcript": "ENST00000343932.5",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 521,
"aa_ref": "C",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": 1294,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1232,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000872480.1",
"gene_hgnc_id": 2596,
"gene_symbol": "CYP1A2",
"hgvs_c": "c.1232G>A",
"hgvs_p": "p.Cys411Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542539.1",
"strand": true,
"transcript": "ENST00000872480.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 516,
"aa_ref": "C",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3151,
"cdna_start": 1305,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1217,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000872476.1",
"gene_hgnc_id": 2596,
"gene_symbol": "CYP1A2",
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Cys406Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542535.1",
"strand": true,
"transcript": "ENST00000872476.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 516,
"aa_ref": "C",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3395,
"cdna_start": 1552,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1217,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000872478.1",
"gene_hgnc_id": 2596,
"gene_symbol": "CYP1A2",
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Cys406Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542537.1",
"strand": true,
"transcript": "ENST00000872478.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 516,
"aa_ref": "C",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2255,
"cdna_start": 1400,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1217,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000872479.1",
"gene_hgnc_id": 2596,
"gene_symbol": "CYP1A2",
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Cys406Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542538.1",
"strand": true,
"transcript": "ENST00000872479.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 512,
"aa_ref": "C",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1863,
"cdna_start": 1267,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1205,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000872481.1",
"gene_hgnc_id": 2596,
"gene_symbol": "CYP1A2",
"hgvs_c": "c.1205G>A",
"hgvs_p": "p.Cys402Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542540.1",
"strand": true,
"transcript": "ENST00000872481.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 504,
"aa_ref": "C",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3089,
"cdna_start": 1243,
"cds_end": null,
"cds_length": 1515,
"cds_start": 1181,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000872475.1",
"gene_hgnc_id": 2596,
"gene_symbol": "CYP1A2",
"hgvs_c": "c.1181G>A",
"hgvs_p": "p.Cys394Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542534.1",
"strand": true,
"transcript": "ENST00000872475.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 489,
"aa_ref": "C",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3043,
"cdna_start": 1197,
"cds_end": null,
"cds_length": 1470,
"cds_start": 1136,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000872477.1",
"gene_hgnc_id": 2596,
"gene_symbol": "CYP1A2",
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Cys379Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542536.1",
"strand": true,
"transcript": "ENST00000872477.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 486,
"aa_ref": "C",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3090,
"cdna_start": 1239,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1127,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000872474.1",
"gene_hgnc_id": 2596,
"gene_symbol": "CYP1A2",
"hgvs_c": "c.1127G>A",
"hgvs_p": "p.Cys376Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542533.1",
"strand": true,
"transcript": "ENST00000872474.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs55889066",
"effect": "missense_variant",
"frequency_reference_population": 0.00009170844,
"gene_hgnc_id": 2596,
"gene_symbol": "CYP1A2",
"gnomad_exomes_ac": 140,
"gnomad_exomes_af": 0.0000957807,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 8,
"gnomad_genomes_af": 0.0000525838,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.672,
"pos": 74753234,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.287,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000761.5"
}
]
}