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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: 12-80370580-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=80370580&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 80370580,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000547103.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.6626C>A",
"hgvs_p": "p.Thr2209Asn",
"transcript": "NM_001378609.3",
"protein_id": "NP_001365538.2",
"transcript_support_level": null,
"aa_start": 2209,
"aa_end": null,
"aa_length": 2353,
"cds_start": 6626,
"cds_end": null,
"cds_length": 7062,
"cdna_start": 6714,
"cdna_end": null,
"cdna_length": 9982,
"mane_select": "ENST00000547103.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.6626C>A",
"hgvs_p": "p.Thr2209Asn",
"transcript": "ENST00000547103.7",
"protein_id": "ENSP00000447211.2",
"transcript_support_level": 5,
"aa_start": 2209,
"aa_end": null,
"aa_length": 2353,
"cds_start": 6626,
"cds_end": null,
"cds_length": 7062,
"cdna_start": 6714,
"cdna_end": null,
"cdna_length": 9982,
"mane_select": "NM_001378609.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.6626C>A",
"hgvs_p": "p.Thr2209Asn",
"transcript": "NM_001378610.3",
"protein_id": "NP_001365539.2",
"transcript_support_level": null,
"aa_start": 2209,
"aa_end": null,
"aa_length": 2353,
"cds_start": 6626,
"cds_end": null,
"cds_length": 7062,
"cdna_start": 7286,
"cdna_end": null,
"cdna_length": 10554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.6626C>A",
"hgvs_p": "p.Thr2209Asn",
"transcript": "NM_173591.7",
"protein_id": "NP_775862.4",
"transcript_support_level": null,
"aa_start": 2209,
"aa_end": null,
"aa_length": 2353,
"cds_start": 6626,
"cds_end": null,
"cds_length": 7062,
"cdna_start": 6704,
"cdna_end": null,
"cdna_length": 9972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.6491C>A",
"hgvs_p": "p.Thr2164Asn",
"transcript": "NM_001368062.3",
"protein_id": "NP_001354991.2",
"transcript_support_level": null,
"aa_start": 2164,
"aa_end": null,
"aa_length": 2308,
"cds_start": 6491,
"cds_end": null,
"cds_length": 6927,
"cdna_start": 7591,
"cdna_end": null,
"cdna_length": 10859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.6491C>A",
"hgvs_p": "p.Thr2164Asn",
"transcript": "ENST00000646859.1",
"protein_id": "ENSP00000496036.1",
"transcript_support_level": null,
"aa_start": 2164,
"aa_end": null,
"aa_length": 2308,
"cds_start": 6491,
"cds_end": null,
"cds_length": 6927,
"cdna_start": 7591,
"cdna_end": null,
"cdna_length": 9939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.1820C>A",
"hgvs_p": "p.Thr607Asn",
"transcript": "ENST00000298820.7",
"protein_id": "ENSP00000298820.3",
"transcript_support_level": 5,
"aa_start": 607,
"aa_end": null,
"aa_length": 751,
"cds_start": 1820,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 1822,
"cdna_end": null,
"cdna_length": 3289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.155C>A",
"hgvs_p": "p.Thr52Asn",
"transcript": "ENST00000550182.3",
"protein_id": "ENSP00000449641.2",
"transcript_support_level": 5,
"aa_start": 52,
"aa_end": null,
"aa_length": 101,
"cds_start": 155,
"cds_end": null,
"cds_length": 306,
"cdna_start": 155,
"cdna_end": null,
"cdna_length": 413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.6650C>A",
"hgvs_p": "p.Thr2217Asn",
"transcript": "XM_005268802.4",
"protein_id": "XP_005268859.1",
"transcript_support_level": null,
"aa_start": 2217,
"aa_end": null,
"aa_length": 2361,
"cds_start": 6650,
"cds_end": null,
"cds_length": 7086,
"cdna_start": 7406,
"cdna_end": null,
"cdna_length": 10674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.6545C>A",
"hgvs_p": "p.Thr2182Asn",
"transcript": "XM_011538193.2",
"protein_id": "XP_011536495.2",
"transcript_support_level": null,
"aa_start": 2182,
"aa_end": null,
"aa_length": 2326,
"cds_start": 6545,
"cds_end": null,
"cds_length": 6981,
"cdna_start": 6601,
"cdna_end": null,
"cdna_length": 9869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.6497C>A",
"hgvs_p": "p.Thr2166Asn",
"transcript": "XM_011538192.3",
"protein_id": "XP_011536494.1",
"transcript_support_level": null,
"aa_start": 2166,
"aa_end": null,
"aa_length": 2310,
"cds_start": 6497,
"cds_end": null,
"cds_length": 6933,
"cdna_start": 6612,
"cdna_end": null,
"cdna_length": 9880,
"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": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "n.882C>A",
"hgvs_p": null,
"transcript": "ENST00000546620.5",
"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": 2360,
"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": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "n.*340C>A",
"hgvs_p": null,
"transcript": "ENST00000551340.5",
"protein_id": "ENSP00000449296.1",
"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": 2087,
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "n.*468C>A",
"hgvs_p": null,
"transcript": "ENST00000642294.1",
"protein_id": "ENSP00000493572.1",
"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": 1828,
"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": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "n.*340C>A",
"hgvs_p": null,
"transcript": "ENST00000551340.5",
"protein_id": "ENSP00000449296.1",
"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": 2087,
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "n.*468C>A",
"hgvs_p": null,
"transcript": "ENST00000642294.1",
"protein_id": "ENSP00000493572.1",
"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": 1828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"dbsnp": "rs146572555",
"frequency_reference_population": 0.0000019546164,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000144606,
"gnomad_genomes_af": 0.00000658918,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2428128719329834,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.089,
"revel_prediction": "Benign",
"alphamissense_score": 0.1165,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.869,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000547103.7",
"gene_symbol": "OTOGL",
"hgnc_id": 26901,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.6626C>A",
"hgvs_p": "p.Thr2209Asn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}