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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: 2-26473237-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=26473237&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 26473237,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000272371.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.3628C>T",
"hgvs_p": "p.Arg1210Trp",
"transcript": "NM_194248.3",
"protein_id": "NP_919224.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1997,
"cds_start": 3628,
"cds_end": null,
"cds_length": 5994,
"cdna_start": 3813,
"cdna_end": null,
"cdna_length": 7214,
"mane_select": "ENST00000272371.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.3628C>T",
"hgvs_p": "p.Arg1210Trp",
"transcript": "ENST00000272371.7",
"protein_id": "ENSP00000272371.2",
"transcript_support_level": 1,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1997,
"cds_start": 3628,
"cds_end": null,
"cds_length": 5994,
"cdna_start": 3813,
"cdna_end": null,
"cdna_length": 7214,
"mane_select": "NM_194248.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Trp",
"transcript": "NM_194323.3",
"protein_id": "NP_919304.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 1230,
"cds_start": 1387,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 1695,
"cdna_end": null,
"cdna_length": 4838,
"mane_select": null,
"mane_plus": "ENST00000339598.8",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Trp",
"transcript": "ENST00000339598.8",
"protein_id": "ENSP00000344521.3",
"transcript_support_level": 1,
"aa_start": 463,
"aa_end": null,
"aa_length": 1230,
"cds_start": 1387,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 1695,
"cdna_end": null,
"cdna_length": 4838,
"mane_select": null,
"mane_plus": "NM_194323.3",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Trp",
"transcript": "ENST00000402415.8",
"protein_id": "ENSP00000383906.4",
"transcript_support_level": 1,
"aa_start": 463,
"aa_end": null,
"aa_length": 1250,
"cds_start": 1387,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 5108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Trp",
"transcript": "ENST00000338581.10",
"protein_id": "ENSP00000345137.6",
"transcript_support_level": 1,
"aa_start": 463,
"aa_end": null,
"aa_length": 1230,
"cds_start": 1387,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 1613,
"cdna_end": null,
"cdna_length": 4954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.3628C>T",
"hgvs_p": "p.Arg1210Trp",
"transcript": "NM_001287489.2",
"protein_id": "NP_001274418.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1997,
"cds_start": 3628,
"cds_end": null,
"cds_length": 5994,
"cdna_start": 3813,
"cdna_end": null,
"cdna_length": 7016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.3628C>T",
"hgvs_p": "p.Arg1210Trp",
"transcript": "ENST00000403946.7",
"protein_id": "ENSP00000385255.3",
"transcript_support_level": 5,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1997,
"cds_start": 3628,
"cds_end": null,
"cds_length": 5994,
"cdna_start": 3735,
"cdna_end": null,
"cdna_length": 6937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.1558C>T",
"hgvs_p": "p.Arg520Trp",
"transcript": "NM_194322.3",
"protein_id": "NP_919303.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 1307,
"cds_start": 1558,
"cds_end": null,
"cds_length": 3924,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 5190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Arg463Trp",
"transcript": "NM_004802.4",
"protein_id": "NP_004793.2",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 1230,
"cds_start": 1387,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 1695,
"cdna_end": null,
"cdna_length": 5036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Arg65Trp",
"transcript": "ENST00000426958.1",
"protein_id": "ENSP00000389917.1",
"transcript_support_level": 3,
"aa_start": 65,
"aa_end": null,
"aa_length": 140,
"cds_start": 193,
"cds_end": null,
"cds_length": 423,
"cdna_start": 194,
"cdna_end": null,
"cdna_length": 557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"dbsnp": "rs397517945",
"frequency_reference_population": 0.0000092979435,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.0000095817,
"gnomad_genomes_af": 0.00000657281,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8576014041900635,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.706,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9908,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.317,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000272371.7",
"gene_symbol": "OTOF",
"hgnc_id": 8515,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3628C>T",
"hgvs_p": "p.Arg1210Trp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}