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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: 1-216247094-TC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=216247094&ref=TC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 216247094,
"ref": "TC",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000307340.8",
"consequences": [
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 72,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH2A",
"gene_hgnc_id": 12601,
"hgvs_c": "c.2299delG",
"hgvs_p": "p.Glu767fs",
"transcript": "NM_206933.4",
"protein_id": "NP_996816.3",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 5202,
"cds_start": 2299,
"cds_end": null,
"cds_length": 15609,
"cdna_start": 2738,
"cdna_end": null,
"cdna_length": 18938,
"mane_select": "ENST00000307340.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 72,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH2A",
"gene_hgnc_id": 12601,
"hgvs_c": "c.2299delG",
"hgvs_p": "p.Glu767fs",
"transcript": "ENST00000307340.8",
"protein_id": "ENSP00000305941.3",
"transcript_support_level": 1,
"aa_start": 767,
"aa_end": null,
"aa_length": 5202,
"cds_start": 2299,
"cds_end": null,
"cds_length": 15609,
"cdna_start": 2738,
"cdna_end": null,
"cdna_length": 18938,
"mane_select": "NM_206933.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH2A",
"gene_hgnc_id": 12601,
"hgvs_c": "c.2299delG",
"hgvs_p": "p.Glu767fs",
"transcript": "ENST00000366942.3",
"protein_id": "ENSP00000355909.3",
"transcript_support_level": 1,
"aa_start": 767,
"aa_end": null,
"aa_length": 1546,
"cds_start": 2299,
"cds_end": null,
"cds_length": 4641,
"cdna_start": 2686,
"cdna_end": null,
"cdna_length": 6320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 73,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH2A",
"gene_hgnc_id": 12601,
"hgvs_c": "c.2299delG",
"hgvs_p": "p.Glu767fs",
"transcript": "ENST00000674083.1",
"protein_id": "ENSP00000501296.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 5226,
"cds_start": 2299,
"cds_end": null,
"cds_length": 15681,
"cdna_start": 2738,
"cdna_end": null,
"cdna_length": 19010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH2A",
"gene_hgnc_id": 12601,
"hgvs_c": "c.2299delG",
"hgvs_p": "p.Glu767fs",
"transcript": "NM_007123.6",
"protein_id": "NP_009054.6",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 1546,
"cds_start": 2299,
"cds_end": null,
"cds_length": 4641,
"cdna_start": 2738,
"cdna_end": null,
"cdna_length": 6372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "USH2A",
"gene_hgnc_id": 12601,
"dbsnp": "rs80338903",
"frequency_reference_population": 0.00094738277,
"hom_count_reference_population": 2,
"allele_count_reference_population": 1529,
"gnomad_exomes_af": 0.000993981,
"gnomad_genomes_af": 0.000499599,
"gnomad_exomes_ac": 1453,
"gnomad_genomes_ac": 76,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.745,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 15,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong,BS2_Supporting",
"acmg_by_gene": [
{
"score": 15,
"benign_score": 1,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong",
"BS2_Supporting"
],
"verdict": "Pathogenic",
"transcript": "ENST00000307340.8",
"gene_symbol": "USH2A",
"hgnc_id": 12601,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2299delG",
"hgvs_p": "p.Glu767fs"
}
],
"clinvar_disease": "Cone-rod dystrophy,Congenital stationary night blindness,Inborn genetic diseases,Macular dystrophy,Rare genetic deafness,Retinal dystrophy,Retinitis pigmentosa,Retinitis pigmentosa 39,USH2A-related disorder,Usher syndrome,Usher syndrome type 2,Usher syndrome type 2A,not provided,not specified",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:36 O:2",
"phenotype_combined": "Usher syndrome type 2A|Retinitis pigmentosa|Retinitis pigmentosa 39|Retinal dystrophy|not provided|Usher syndrome|Inborn genetic diseases|not specified|Cone-rod dystrophy|Congenital stationary night blindness|Rare genetic deafness;Usher syndrome|Macular dystrophy|USH2A-related disorder|Retinitis pigmentosa 39;Usher syndrome type 2A|Usher syndrome type 2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}