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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: 2-26475409-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=26475409&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 26475409,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_194248.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.3076A>T",
"hgvs_p": "p.Arg1026Trp",
"transcript": "NM_194248.3",
"protein_id": "NP_919224.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1997,
"cds_start": 3076,
"cds_end": null,
"cds_length": 5994,
"cdna_start": 3261,
"cdna_end": null,
"cdna_length": 7214,
"mane_select": "ENST00000272371.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_194248.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.3076A>T",
"hgvs_p": "p.Arg1026Trp",
"transcript": "ENST00000272371.7",
"protein_id": "ENSP00000272371.2",
"transcript_support_level": 1,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1997,
"cds_start": 3076,
"cds_end": null,
"cds_length": 5994,
"cdna_start": 3261,
"cdna_end": null,
"cdna_length": 7214,
"mane_select": "NM_194248.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272371.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.835A>T",
"hgvs_p": "p.Arg279Trp",
"transcript": "NM_194323.3",
"protein_id": "NP_919304.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 1230,
"cds_start": 835,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 4838,
"mane_select": null,
"mane_plus": "ENST00000339598.8",
"biotype": "protein_coding",
"feature": "NM_194323.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.835A>T",
"hgvs_p": "p.Arg279Trp",
"transcript": "ENST00000339598.8",
"protein_id": "ENSP00000344521.3",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 1230,
"cds_start": 835,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 4838,
"mane_select": null,
"mane_plus": "NM_194323.3",
"biotype": "protein_coding",
"feature": "ENST00000339598.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.835A>T",
"hgvs_p": "p.Arg279Trp",
"transcript": "ENST00000402415.8",
"protein_id": "ENSP00000383906.4",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 1250,
"cds_start": 835,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 5108,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402415.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.835A>T",
"hgvs_p": "p.Arg279Trp",
"transcript": "ENST00000338581.10",
"protein_id": "ENSP00000345137.6",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 1230,
"cds_start": 835,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 4954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338581.10"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.3076A>T",
"hgvs_p": "p.Arg1026Trp",
"transcript": "NM_001287489.2",
"protein_id": "NP_001274418.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1997,
"cds_start": 3076,
"cds_end": null,
"cds_length": 5994,
"cdna_start": 3261,
"cdna_end": null,
"cdna_length": 7016,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287489.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.3076A>T",
"hgvs_p": "p.Arg1026Trp",
"transcript": "ENST00000403946.7",
"protein_id": "ENSP00000385255.3",
"transcript_support_level": 5,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1997,
"cds_start": 3076,
"cds_end": null,
"cds_length": 5994,
"cdna_start": 3183,
"cdna_end": null,
"cdna_length": 6937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403946.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.1006A>T",
"hgvs_p": "p.Arg336Trp",
"transcript": "NM_194322.3",
"protein_id": "NP_919303.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 1307,
"cds_start": 1006,
"cds_end": null,
"cds_length": 3924,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 5190,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_194322.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.835A>T",
"hgvs_p": "p.Arg279Trp",
"transcript": "NM_004802.4",
"protein_id": "NP_004793.2",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 1230,
"cds_start": 835,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 5036,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004802.4"
}
],
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"dbsnp": "rs145239283",
"frequency_reference_population": 0.0006949111,
"hom_count_reference_population": 10,
"allele_count_reference_population": 1121,
"gnomad_exomes_af": 0.000341568,
"gnomad_genomes_af": 0.00408549,
"gnomad_exomes_ac": 499,
"gnomad_genomes_ac": 622,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008550971746444702,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.588,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3045,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.795,
"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": "NM_194248.3",
"gene_symbol": "OTOF",
"hgnc_id": 8515,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.3076A>T",
"hgvs_p": "p.Arg1026Trp"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}