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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: 2-26463976-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=26463976&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 26463976,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000272371.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.5091G>A",
"hgvs_p": "p.Pro1697Pro",
"transcript": "NM_194248.3",
"protein_id": "NP_919224.1",
"transcript_support_level": null,
"aa_start": 1697,
"aa_end": null,
"aa_length": 1997,
"cds_start": 5091,
"cds_end": null,
"cds_length": 5994,
"cdna_start": 5276,
"cdna_end": null,
"cdna_length": 7214,
"mane_select": "ENST00000272371.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.5091G>A",
"hgvs_p": "p.Pro1697Pro",
"transcript": "ENST00000272371.7",
"protein_id": "ENSP00000272371.2",
"transcript_support_level": 1,
"aa_start": 1697,
"aa_end": null,
"aa_length": 1997,
"cds_start": 5091,
"cds_end": null,
"cds_length": 5994,
"cdna_start": 5276,
"cdna_end": null,
"cdna_length": 7214,
"mane_select": "NM_194248.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.2790G>A",
"hgvs_p": "p.Pro930Pro",
"transcript": "NM_194323.3",
"protein_id": "NP_919304.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2790,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 3098,
"cdna_end": null,
"cdna_length": 4838,
"mane_select": null,
"mane_plus": "ENST00000339598.8",
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.2790G>A",
"hgvs_p": "p.Pro930Pro",
"transcript": "ENST00000339598.8",
"protein_id": "ENSP00000344521.3",
"transcript_support_level": 1,
"aa_start": 930,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2790,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 3098,
"cdna_end": null,
"cdna_length": 4838,
"mane_select": null,
"mane_plus": "NM_194323.3",
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.2850G>A",
"hgvs_p": "p.Pro950Pro",
"transcript": "ENST00000402415.8",
"protein_id": "ENSP00000383906.4",
"transcript_support_level": 1,
"aa_start": 950,
"aa_end": null,
"aa_length": 1250,
"cds_start": 2850,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 3170,
"cdna_end": null,
"cdna_length": 5108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.2790G>A",
"hgvs_p": "p.Pro930Pro",
"transcript": "ENST00000338581.10",
"protein_id": "ENSP00000345137.6",
"transcript_support_level": 1,
"aa_start": 930,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2790,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 3016,
"cdna_end": null,
"cdna_length": 4954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.5091G>A",
"hgvs_p": "p.Pro1697Pro",
"transcript": "NM_001287489.2",
"protein_id": "NP_001274418.1",
"transcript_support_level": null,
"aa_start": 1697,
"aa_end": null,
"aa_length": 1997,
"cds_start": 5091,
"cds_end": null,
"cds_length": 5994,
"cdna_start": 5276,
"cdna_end": null,
"cdna_length": 7016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.5091G>A",
"hgvs_p": "p.Pro1697Pro",
"transcript": "ENST00000403946.7",
"protein_id": "ENSP00000385255.3",
"transcript_support_level": 5,
"aa_start": 1697,
"aa_end": null,
"aa_length": 1997,
"cds_start": 5091,
"cds_end": null,
"cds_length": 5994,
"cdna_start": 5198,
"cdna_end": null,
"cdna_length": 6937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.3021G>A",
"hgvs_p": "p.Pro1007Pro",
"transcript": "NM_194322.3",
"protein_id": "NP_919303.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1307,
"cds_start": 3021,
"cds_end": null,
"cds_length": 3924,
"cdna_start": 3252,
"cdna_end": null,
"cdna_length": 5190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.2790G>A",
"hgvs_p": "p.Pro930Pro",
"transcript": "NM_004802.4",
"protein_id": "NP_004793.2",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2790,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 3098,
"cdna_end": null,
"cdna_length": 5036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "n.840G>A",
"hgvs_p": null,
"transcript": "ENST00000464574.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"dbsnp": "rs373568741",
"frequency_reference_population": 0.00013941799,
"hom_count_reference_population": 0,
"allele_count_reference_population": 225,
"gnomad_exomes_af": 0.000133423,
"gnomad_genomes_af": 0.000196933,
"gnomad_exomes_ac": 195,
"gnomad_genomes_ac": 30,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.36000001430511475,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -8.873,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BP7,BS1",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000272371.7",
"gene_symbol": "OTOF",
"hgnc_id": 8515,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5091G>A",
"hgvs_p": "p.Pro1697Pro"
}
],
"clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 9,OTOF-related disorder,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"phenotype_combined": "not specified|not provided|OTOF-related disorder|Autosomal recessive nonsyndromic hearing loss 9",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}