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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: 10-71690579-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=71690579&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 71690579,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000224721.12",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH23",
"gene_hgnc_id": 13733,
"hgvs_c": "c.2171G>T",
"hgvs_p": "p.Arg724Leu",
"transcript": "NM_022124.6",
"protein_id": "NP_071407.4",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 3354,
"cds_start": 2171,
"cds_end": null,
"cds_length": 10065,
"cdna_start": 2575,
"cdna_end": null,
"cdna_length": 11138,
"mane_select": "ENST00000224721.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH23",
"gene_hgnc_id": 13733,
"hgvs_c": "c.2171G>T",
"hgvs_p": "p.Arg724Leu",
"transcript": "ENST00000224721.12",
"protein_id": "ENSP00000224721.9",
"transcript_support_level": 5,
"aa_start": 724,
"aa_end": null,
"aa_length": 3354,
"cds_start": 2171,
"cds_end": null,
"cds_length": 10065,
"cdna_start": 2575,
"cdna_end": null,
"cdna_length": 11138,
"mane_select": "NM_022124.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH23",
"gene_hgnc_id": 13733,
"hgvs_c": "c.2171G>T",
"hgvs_p": "p.Arg724Leu",
"transcript": "NM_001171930.2",
"protein_id": "NP_001165401.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1381,
"cds_start": 2171,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 2575,
"cdna_end": null,
"cdna_length": 4858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH23",
"gene_hgnc_id": 13733,
"hgvs_c": "c.2171G>T",
"hgvs_p": "p.Arg724Leu",
"transcript": "ENST00000616684.4",
"protein_id": "ENSP00000482036.2",
"transcript_support_level": 5,
"aa_start": 724,
"aa_end": null,
"aa_length": 1381,
"cds_start": 2171,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 2533,
"cdna_end": null,
"cdna_length": 4814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH23",
"gene_hgnc_id": 13733,
"hgvs_c": "c.2171G>T",
"hgvs_p": "p.Arg724Leu",
"transcript": "ENST00000398809.9",
"protein_id": "ENSP00000381789.5",
"transcript_support_level": 5,
"aa_start": 724,
"aa_end": null,
"aa_length": 1380,
"cds_start": 2171,
"cds_end": null,
"cds_length": 4143,
"cdna_start": 2561,
"cdna_end": null,
"cdna_length": 4839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH23",
"gene_hgnc_id": 13733,
"hgvs_c": "c.2171G>T",
"hgvs_p": "p.Arg724Leu",
"transcript": "ENST00000442677.4",
"protein_id": "ENSP00000388894.3",
"transcript_support_level": 5,
"aa_start": 724,
"aa_end": null,
"aa_length": 1211,
"cds_start": 2171,
"cds_end": null,
"cds_length": 3636,
"cdna_start": 2171,
"cdna_end": null,
"cdna_length": 8225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH23",
"gene_hgnc_id": 13733,
"hgvs_c": "c.2171G>T",
"hgvs_p": "p.Arg724Leu",
"transcript": "NM_001171931.2",
"protein_id": "NP_001165402.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1061,
"cds_start": 2171,
"cds_end": null,
"cds_length": 3186,
"cdna_start": 2575,
"cdna_end": null,
"cdna_length": 3971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH23",
"gene_hgnc_id": 13733,
"hgvs_c": "c.2171G>T",
"hgvs_p": "p.Arg724Leu",
"transcript": "ENST00000299366.11",
"protein_id": "ENSP00000299366.8",
"transcript_support_level": 5,
"aa_start": 724,
"aa_end": null,
"aa_length": 1061,
"cds_start": 2171,
"cds_end": null,
"cds_length": 3186,
"cdna_start": 2558,
"cdna_end": null,
"cdna_length": 3954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH23",
"gene_hgnc_id": 13733,
"hgvs_c": "c.1601G>T",
"hgvs_p": "p.Arg534Leu",
"transcript": "ENST00000466757.8",
"protein_id": "ENSP00000473539.2",
"transcript_support_level": 5,
"aa_start": 534,
"aa_end": null,
"aa_length": 1034,
"cds_start": 1601,
"cds_end": null,
"cds_length": 3105,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 4471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CDH23",
"gene_hgnc_id": 13733,
"dbsnp": "rs374955091",
"frequency_reference_population": 0.0000031487455,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000278575,
"gnomad_genomes_af": 0.00000657661,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.801223874092102,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.67,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6117,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.415,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000224721.12",
"gene_symbol": "CDH23",
"hgnc_id": 13733,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2171G>T",
"hgvs_p": "p.Arg724Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}