← 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: 1-216247227-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=216247227&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 216247227,
"ref": "C",
"alt": "T",
"effect": "splice_acceptor_variant,intron_variant",
"transcript": "NM_206933.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 72,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "USH2A",
"gene_hgnc_id": 12601,
"hgvs_c": "c.2168-1G>A",
"hgvs_p": null,
"transcript": "NM_206933.4",
"protein_id": "NP_996816.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 5202,
"cds_start": -4,
"cds_end": null,
"cds_length": 15609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 18938,
"mane_select": "ENST00000307340.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 72,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "USH2A",
"gene_hgnc_id": 12601,
"hgvs_c": "c.2168-1G>A",
"hgvs_p": null,
"transcript": "ENST00000307340.8",
"protein_id": "ENSP00000305941.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 5202,
"cds_start": -4,
"cds_end": null,
"cds_length": 15609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 18938,
"mane_select": "NM_206933.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "USH2A",
"gene_hgnc_id": 12601,
"hgvs_c": "c.2168-1G>A",
"hgvs_p": null,
"transcript": "ENST00000366942.3",
"protein_id": "ENSP00000355909.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1546,
"cds_start": -4,
"cds_end": null,
"cds_length": 4641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 73,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "USH2A",
"gene_hgnc_id": 12601,
"hgvs_c": "c.2168-1G>A",
"hgvs_p": null,
"transcript": "ENST00000674083.1",
"protein_id": "ENSP00000501296.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 5226,
"cds_start": -4,
"cds_end": null,
"cds_length": 15681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 19010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "USH2A",
"gene_hgnc_id": 12601,
"hgvs_c": "c.2168-1G>A",
"hgvs_p": null,
"transcript": "NM_007123.6",
"protein_id": "NP_009054.6",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1546,
"cds_start": -4,
"cds_end": null,
"cds_length": 4641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "USH2A",
"gene_hgnc_id": 12601,
"dbsnp": "rs748961218",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.38999998569488525,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.9359999895095825,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.219,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.82,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999985532734767,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_206933.4",
"gene_symbol": "USH2A",
"hgnc_id": 12601,
"effects": [
"splice_acceptor_variant",
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2168-1G>A",
"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
}