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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: 17-39696865-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=39696865&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 39696865,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001289936.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.-18+1684A>G",
"hgvs_p": null,
"transcript": "ENST00000578199.5",
"protein_id": "ENSP00000462808.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 603,
"cds_start": -4,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.-24+1684A>G",
"hgvs_p": null,
"transcript": "NM_001289936.2",
"protein_id": "NP_001276865.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1240,
"cds_start": -4,
"cds_end": null,
"cds_length": 3723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.-18+1684A>G",
"hgvs_p": null,
"transcript": "NM_001005862.3",
"protein_id": "NP_001005862.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1225,
"cds_start": -4,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.-18+1684A>G",
"hgvs_p": null,
"transcript": "NM_001382782.1",
"protein_id": "NP_001369711.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1225,
"cds_start": -4,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.-18+1684A>G",
"hgvs_p": null,
"transcript": "ENST00000406381.6",
"protein_id": "ENSP00000385185.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1225,
"cds_start": -4,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.-69+1684A>G",
"hgvs_p": null,
"transcript": "ENST00000584601.5",
"protein_id": "ENSP00000462438.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1225,
"cds_start": -4,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.-18+1684A>G",
"hgvs_p": null,
"transcript": "NM_001289938.2",
"protein_id": "NP_001276867.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 603,
"cds_start": -4,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.-24+1684A>G",
"hgvs_p": null,
"transcript": "XM_047435590.1",
"protein_id": "XP_047291546.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1240,
"cds_start": -4,
"cds_end": null,
"cds_length": 3723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP3",
"gene_hgnc_id": 23719,
"hgvs_c": "c.-395T>C",
"hgvs_p": null,
"transcript": "ENST00000584856.1",
"protein_id": "ENSP00000463785.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 69,
"cds_start": -4,
"cds_end": null,
"cds_length": 211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"dbsnp": "rs2643195",
"frequency_reference_population": 0.5831207,
"hom_count_reference_population": 27492,
"allele_count_reference_population": 88660,
"gnomad_exomes_af": 0.571429,
"gnomad_genomes_af": 0.583136,
"gnomad_exomes_ac": 112,
"gnomad_genomes_ac": 88548,
"gnomad_exomes_homalt": 34,
"gnomad_genomes_homalt": 27458,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.800000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.858,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001289936.2",
"gene_symbol": "ERBB2",
"hgnc_id": 3430,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.-24+1684A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000584856.1",
"gene_symbol": "PGAP3",
"hgnc_id": 23719,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-395T>C",
"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
}