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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: 2-26466774-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=26466774&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 26466774,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_194248.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.4440G>A",
"hgvs_p": "p.Met1480Ile",
"transcript": "NM_194248.3",
"protein_id": "NP_919224.1",
"transcript_support_level": null,
"aa_start": 1480,
"aa_end": null,
"aa_length": 1997,
"cds_start": 4440,
"cds_end": null,
"cds_length": 5994,
"cdna_start": 4625,
"cdna_end": null,
"cdna_length": 7214,
"mane_select": "ENST00000272371.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.4440G>A",
"hgvs_p": "p.Met1480Ile",
"transcript": "ENST00000272371.7",
"protein_id": "ENSP00000272371.2",
"transcript_support_level": 1,
"aa_start": 1480,
"aa_end": null,
"aa_length": 1997,
"cds_start": 4440,
"cds_end": null,
"cds_length": 5994,
"cdna_start": 4625,
"cdna_end": null,
"cdna_length": 7214,
"mane_select": "NM_194248.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.2139G>A",
"hgvs_p": "p.Met713Ile",
"transcript": "NM_194323.3",
"protein_id": "NP_919304.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2139,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 2447,
"cdna_end": null,
"cdna_length": 4838,
"mane_select": null,
"mane_plus": "ENST00000339598.8",
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.2139G>A",
"hgvs_p": "p.Met713Ile",
"transcript": "ENST00000339598.8",
"protein_id": "ENSP00000344521.3",
"transcript_support_level": 1,
"aa_start": 713,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2139,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 2447,
"cdna_end": null,
"cdna_length": 4838,
"mane_select": null,
"mane_plus": "NM_194323.3",
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.2199G>A",
"hgvs_p": "p.Met733Ile",
"transcript": "ENST00000402415.8",
"protein_id": "ENSP00000383906.4",
"transcript_support_level": 1,
"aa_start": 733,
"aa_end": null,
"aa_length": 1250,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 2519,
"cdna_end": null,
"cdna_length": 5108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.2139G>A",
"hgvs_p": "p.Met713Ile",
"transcript": "ENST00000338581.10",
"protein_id": "ENSP00000345137.6",
"transcript_support_level": 1,
"aa_start": 713,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2139,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 2365,
"cdna_end": null,
"cdna_length": 4954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.4440G>A",
"hgvs_p": "p.Met1480Ile",
"transcript": "NM_001287489.2",
"protein_id": "NP_001274418.1",
"transcript_support_level": null,
"aa_start": 1480,
"aa_end": null,
"aa_length": 1997,
"cds_start": 4440,
"cds_end": null,
"cds_length": 5994,
"cdna_start": 4625,
"cdna_end": null,
"cdna_length": 7016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.4440G>A",
"hgvs_p": "p.Met1480Ile",
"transcript": "ENST00000403946.7",
"protein_id": "ENSP00000385255.3",
"transcript_support_level": 5,
"aa_start": 1480,
"aa_end": null,
"aa_length": 1997,
"cds_start": 4440,
"cds_end": null,
"cds_length": 5994,
"cdna_start": 4547,
"cdna_end": null,
"cdna_length": 6937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.2370G>A",
"hgvs_p": "p.Met790Ile",
"transcript": "NM_194322.3",
"protein_id": "NP_919303.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 1307,
"cds_start": 2370,
"cds_end": null,
"cds_length": 3924,
"cdna_start": 2601,
"cdna_end": null,
"cdna_length": 5190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"hgvs_c": "c.2139G>A",
"hgvs_p": "p.Met713Ile",
"transcript": "NM_004802.4",
"protein_id": "NP_004793.2",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 1230,
"cds_start": 2139,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 2447,
"cdna_end": null,
"cdna_length": 5036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "OTOF",
"gene_hgnc_id": 8515,
"dbsnp": "rs727503354",
"frequency_reference_population": 0.0000013680957,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013681,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.36104080080986023,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.498,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7141,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.097,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_194248.3",
"gene_symbol": "OTOF",
"hgnc_id": 8515,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4440G>A",
"hgvs_p": "p.Met1480Ile"
}
],
"clinvar_disease": "Hearing impairment,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|Hearing impairment",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}