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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: 15-74752211-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=74752211&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP3_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CYP1A2",
"hgnc_id": 2596,
"hgvs_c": "c.1130G>A",
"hgvs_p": "p.Arg377Gln",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 0,
"transcript": "NM_000761.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong,BS2",
"acmg_score": 0,
"allele_count_reference_population": 23,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.7216,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.57,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9452916383743286,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 516,
"aa_ref": "R",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3132,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_000761.5",
"gene_hgnc_id": 2596,
"gene_symbol": "CYP1A2",
"hgvs_c": "c.1130G>A",
"hgvs_p": "p.Arg377Gln",
"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": "Q",
"aa_end": null,
"aa_length": 516,
"aa_ref": "R",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3132,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000343932.5",
"gene_hgnc_id": 2596,
"gene_symbol": "CYP1A2",
"hgvs_c": "c.1130G>A",
"hgvs_p": "p.Arg377Gln",
"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": "Q",
"aa_end": null,
"aa_length": 521,
"aa_ref": "R",
"aa_start": 382,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": 1207,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1145,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000872480.1",
"gene_hgnc_id": 2596,
"gene_symbol": "CYP1A2",
"hgvs_c": "c.1145G>A",
"hgvs_p": "p.Arg382Gln",
"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": "Q",
"aa_end": null,
"aa_length": 516,
"aa_ref": "R",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3151,
"cdna_start": 1218,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000872476.1",
"gene_hgnc_id": 2596,
"gene_symbol": "CYP1A2",
"hgvs_c": "c.1130G>A",
"hgvs_p": "p.Arg377Gln",
"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": "Q",
"aa_end": null,
"aa_length": 516,
"aa_ref": "R",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3395,
"cdna_start": 1465,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000872478.1",
"gene_hgnc_id": 2596,
"gene_symbol": "CYP1A2",
"hgvs_c": "c.1130G>A",
"hgvs_p": "p.Arg377Gln",
"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": "Q",
"aa_end": null,
"aa_length": 516,
"aa_ref": "R",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2255,
"cdna_start": 1313,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000872479.1",
"gene_hgnc_id": 2596,
"gene_symbol": "CYP1A2",
"hgvs_c": "c.1130G>A",
"hgvs_p": "p.Arg377Gln",
"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": "Q",
"aa_end": null,
"aa_length": 512,
"aa_ref": "R",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1863,
"cdna_start": 1180,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1118,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000872481.1",
"gene_hgnc_id": 2596,
"gene_symbol": "CYP1A2",
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373Gln",
"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": "Q",
"aa_end": null,
"aa_length": 504,
"aa_ref": "R",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3089,
"cdna_start": 1156,
"cds_end": null,
"cds_length": 1515,
"cds_start": 1094,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000872475.1",
"gene_hgnc_id": 2596,
"gene_symbol": "CYP1A2",
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Arg365Gln",
"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": "Q",
"aa_end": null,
"aa_length": 489,
"aa_ref": "R",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3043,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 1470,
"cds_start": 1049,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000872477.1",
"gene_hgnc_id": 2596,
"gene_symbol": "CYP1A2",
"hgvs_c": "c.1049G>A",
"hgvs_p": "p.Arg350Gln",
"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": "Q",
"aa_end": null,
"aa_length": 486,
"aa_ref": "R",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3090,
"cdna_start": 1152,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1040,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000872474.1",
"gene_hgnc_id": 2596,
"gene_symbol": "CYP1A2",
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Arg347Gln",
"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": "rs72547515",
"effect": "missense_variant",
"frequency_reference_population": 0.000014251599,
"gene_hgnc_id": 2596,
"gene_symbol": "CYP1A2",
"gnomad_exomes_ac": 20,
"gnomad_exomes_af": 0.0000136817,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000197306,
"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": "Pathogenic",
"phylop100way_score": 9.736,
"pos": 74752211,
"ref": "G",
"revel_prediction": "Pathogenic",
"revel_score": 0.944,
"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"
}
]
}