← 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: 12-80329083-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=80329083&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 80329083,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_173591.7",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.4312A>G",
"hgvs_p": "p.Met1438Val",
"transcript": "NM_001378609.3",
"protein_id": "NP_001365538.2",
"transcript_support_level": null,
"aa_start": 1438,
"aa_end": null,
"aa_length": 2353,
"cds_start": 4312,
"cds_end": null,
"cds_length": 7062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000547103.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378609.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.4312A>G",
"hgvs_p": "p.Met1438Val",
"transcript": "ENST00000547103.7",
"protein_id": "ENSP00000447211.2",
"transcript_support_level": 5,
"aa_start": 1438,
"aa_end": null,
"aa_length": 2353,
"cds_start": 4312,
"cds_end": null,
"cds_length": 7062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001378609.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547103.7"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.4312A>G",
"hgvs_p": "p.Met1438Val",
"transcript": "NM_001378610.3",
"protein_id": "NP_001365539.2",
"transcript_support_level": null,
"aa_start": 1438,
"aa_end": null,
"aa_length": 2353,
"cds_start": 4312,
"cds_end": null,
"cds_length": 7062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378610.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.4312A>G",
"hgvs_p": "p.Met1438Val",
"transcript": "NM_173591.7",
"protein_id": "NP_775862.4",
"transcript_support_level": null,
"aa_start": 1438,
"aa_end": null,
"aa_length": 2353,
"cds_start": 4312,
"cds_end": null,
"cds_length": 7062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173591.7"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.4177A>G",
"hgvs_p": "p.Met1393Val",
"transcript": "NM_001368062.3",
"protein_id": "NP_001354991.2",
"transcript_support_level": null,
"aa_start": 1393,
"aa_end": null,
"aa_length": 2308,
"cds_start": 4177,
"cds_end": null,
"cds_length": 6927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368062.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.4177A>G",
"hgvs_p": "p.Met1393Val",
"transcript": "ENST00000646859.1",
"protein_id": "ENSP00000496036.1",
"transcript_support_level": null,
"aa_start": 1393,
"aa_end": null,
"aa_length": 2308,
"cds_start": 4177,
"cds_end": null,
"cds_length": 6927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646859.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.4336A>G",
"hgvs_p": "p.Met1446Val",
"transcript": "XM_005268802.4",
"protein_id": "XP_005268859.1",
"transcript_support_level": null,
"aa_start": 1446,
"aa_end": null,
"aa_length": 2361,
"cds_start": 4336,
"cds_end": null,
"cds_length": 7086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268802.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.4231A>G",
"hgvs_p": "p.Met1411Val",
"transcript": "XM_011538193.2",
"protein_id": "XP_011536495.2",
"transcript_support_level": null,
"aa_start": 1411,
"aa_end": null,
"aa_length": 2326,
"cds_start": 4231,
"cds_end": null,
"cds_length": 6981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538193.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.4183A>G",
"hgvs_p": "p.Met1395Val",
"transcript": "XM_011538192.3",
"protein_id": "XP_011536494.1",
"transcript_support_level": null,
"aa_start": 1395,
"aa_end": null,
"aa_length": 2310,
"cds_start": 4183,
"cds_end": null,
"cds_length": 6933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538192.3"
}
],
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"dbsnp": "rs1555298321",
"frequency_reference_population": 7.097847e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.09785e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06343886256217957,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.008,
"revel_prediction": "Benign",
"alphamissense_score": 0.0661,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.335,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_173591.7",
"gene_symbol": "OTOGL",
"hgnc_id": 26901,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4312A>G",
"hgvs_p": "p.Met1438Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}