← Back to variant description
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: 8-22115744-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=22115744&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 22115744,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000381418.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HR",
"gene_hgnc_id": 5172,
"hgvs_c": "c.3526C>T",
"hgvs_p": "p.Gln1176*",
"transcript": "NM_005144.5",
"protein_id": "NP_005135.2",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3526,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 4149,
"cdna_end": null,
"cdna_length": 5474,
"mane_select": "ENST00000381418.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HR",
"gene_hgnc_id": 5172,
"hgvs_c": "c.3526C>T",
"hgvs_p": "p.Gln1176*",
"transcript": "ENST00000381418.9",
"protein_id": "ENSP00000370826.4",
"transcript_support_level": 1,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3526,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 4149,
"cdna_end": null,
"cdna_length": 5474,
"mane_select": "NM_005144.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HR",
"gene_hgnc_id": 5172,
"hgvs_c": "c.3526C>T",
"hgvs_p": "p.Gln1176*",
"transcript": "ENST00000680789.1",
"protein_id": "ENSP00000505181.1",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3526,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 4313,
"cdna_end": null,
"cdna_length": 5638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HR",
"gene_hgnc_id": 5172,
"hgvs_c": "c.3361C>T",
"hgvs_p": "p.Gln1121*",
"transcript": "NM_018411.4",
"protein_id": "NP_060881.2",
"transcript_support_level": null,
"aa_start": 1121,
"aa_end": null,
"aa_length": 1134,
"cds_start": 3361,
"cds_end": null,
"cds_length": 3405,
"cdna_start": 4026,
"cdna_end": null,
"cdna_length": 5351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HR",
"gene_hgnc_id": 5172,
"hgvs_c": "c.3361C>T",
"hgvs_p": "p.Gln1121*",
"transcript": "ENST00000312841.9",
"protein_id": "ENSP00000326765.8",
"transcript_support_level": 5,
"aa_start": 1121,
"aa_end": null,
"aa_length": 1134,
"cds_start": 3361,
"cds_end": null,
"cds_length": 3405,
"cdna_start": 4026,
"cdna_end": null,
"cdna_length": 5351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HR",
"gene_hgnc_id": 5172,
"hgvs_c": "n.1719C>T",
"hgvs_p": null,
"transcript": "ENST00000522016.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HR",
"gene_hgnc_id": 5172,
"dbsnp": "rs121434450",
"frequency_reference_population": 0.0000013681463,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136815,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6000000238418579,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.6,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.495,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.14,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PVS1_Moderate",
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000381418.9",
"gene_symbol": "HR",
"hgnc_id": 5172,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.3526C>T",
"hgvs_p": "p.Gln1176*"
}
],
"clinvar_disease": "Atrichia with papular lesions",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Atrichia with papular lesions",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}