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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: 16-21736376-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=21736376&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 21736376,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000646100.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOA",
"gene_hgnc_id": 16378,
"hgvs_c": "c.2417A>C",
"hgvs_p": "p.Tyr806Ser",
"transcript": "NM_144672.4",
"protein_id": "NP_653273.3",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 1139,
"cds_start": 2417,
"cds_end": null,
"cds_length": 3420,
"cdna_start": 2686,
"cdna_end": null,
"cdna_length": 3878,
"mane_select": "ENST00000646100.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOA",
"gene_hgnc_id": 16378,
"hgvs_c": "c.2417A>C",
"hgvs_p": "p.Tyr806Ser",
"transcript": "ENST00000646100.2",
"protein_id": "ENSP00000496564.2",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 1139,
"cds_start": 2417,
"cds_end": null,
"cds_length": 3420,
"cdna_start": 2686,
"cdna_end": null,
"cdna_length": 3878,
"mane_select": "NM_144672.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOA",
"gene_hgnc_id": 16378,
"hgvs_c": "c.2417A>C",
"hgvs_p": "p.Tyr806Ser",
"transcript": "ENST00000388958.8",
"protein_id": "ENSP00000373610.3",
"transcript_support_level": 1,
"aa_start": 806,
"aa_end": null,
"aa_length": 1139,
"cds_start": 2417,
"cds_end": null,
"cds_length": 3420,
"cdna_start": 2418,
"cdna_end": null,
"cdna_length": 3609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOA",
"gene_hgnc_id": 16378,
"hgvs_c": "c.2459A>C",
"hgvs_p": "p.Tyr820Ser",
"transcript": "ENST00000286149.8",
"protein_id": "ENSP00000286149.4",
"transcript_support_level": 5,
"aa_start": 820,
"aa_end": null,
"aa_length": 1153,
"cds_start": 2459,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 2460,
"cdna_end": null,
"cdna_length": 3471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOA",
"gene_hgnc_id": 16378,
"hgvs_c": "c.2180A>C",
"hgvs_p": "p.Tyr727Ser",
"transcript": "NM_001161683.2",
"protein_id": "NP_001155155.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 1060,
"cds_start": 2180,
"cds_end": null,
"cds_length": 3183,
"cdna_start": 2274,
"cdna_end": null,
"cdna_length": 3466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOA",
"gene_hgnc_id": 16378,
"hgvs_c": "c.2180A>C",
"hgvs_p": "p.Tyr727Ser",
"transcript": "ENST00000388956.8",
"protein_id": "ENSP00000373608.4",
"transcript_support_level": 2,
"aa_start": 727,
"aa_end": null,
"aa_length": 1060,
"cds_start": 2180,
"cds_end": null,
"cds_length": 3183,
"cdna_start": 2274,
"cdna_end": null,
"cdna_length": 3466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOA",
"gene_hgnc_id": 16378,
"hgvs_c": "c.1445A>C",
"hgvs_p": "p.Tyr482Ser",
"transcript": "NM_170664.3",
"protein_id": "NP_733764.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 815,
"cds_start": 1445,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 2704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOA",
"gene_hgnc_id": 16378,
"hgvs_c": "c.1445A>C",
"hgvs_p": "p.Tyr482Ser",
"transcript": "ENST00000388957.3",
"protein_id": "ENSP00000373609.3",
"transcript_support_level": 2,
"aa_start": 482,
"aa_end": null,
"aa_length": 815,
"cds_start": 1445,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 2703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOA",
"gene_hgnc_id": 16378,
"hgvs_c": "c.1286A>C",
"hgvs_p": "p.Tyr429Ser",
"transcript": "XM_011545748.3",
"protein_id": "XP_011544050.3",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 762,
"cds_start": 1286,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOA",
"gene_hgnc_id": 16378,
"hgvs_c": "n.1476A>C",
"hgvs_p": null,
"transcript": "ENST00000563506.1",
"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": 2662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOA",
"gene_hgnc_id": 16378,
"hgvs_c": "n.1880A>C",
"hgvs_p": null,
"transcript": "ENST00000563871.5",
"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": 4635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOA",
"gene_hgnc_id": 16378,
"hgvs_c": "n.*1231A>C",
"hgvs_p": null,
"transcript": "ENST00000647277.1",
"protein_id": "ENSP00000495594.1",
"transcript_support_level": null,
"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": 3385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOA",
"gene_hgnc_id": 16378,
"hgvs_c": "n.1512A>C",
"hgvs_p": null,
"transcript": "XR_002957775.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOA",
"gene_hgnc_id": 16378,
"hgvs_c": "n.*1231A>C",
"hgvs_p": null,
"transcript": "ENST00000647277.1",
"protein_id": "ENSP00000495594.1",
"transcript_support_level": null,
"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": 3385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "OTOA",
"gene_hgnc_id": 16378,
"dbsnp": "rs464691",
"frequency_reference_population": 0.00034776723,
"hom_count_reference_population": 2,
"allele_count_reference_population": 561,
"gnomad_exomes_af": 0.00025187,
"gnomad_genomes_af": 0.00126909,
"gnomad_exomes_ac": 368,
"gnomad_genomes_ac": 193,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007861852645874023,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.114,
"revel_prediction": "Benign",
"alphamissense_score": 0.0409,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.357,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000646100.2",
"gene_symbol": "OTOA",
"hgnc_id": 16378,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2417A>C",
"hgvs_p": "p.Tyr806Ser"
}
],
"clinvar_disease": "OTOA-related disorder,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "not specified|not provided|OTOA-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}