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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: 10-71617337-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=71617337&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 19,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CDH23",
"hgnc_id": 13733,
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Leu",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 0,
"score": -19,
"transcript": "NM_022124.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -19,
"allele_count_reference_population": 2009,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "10",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 12,CDH23-related disorder,Usher syndrome type 1,Usher syndrome type 1D,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2 LB:2 B:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.30000001192092896,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 3354,
"aa_ref": "L",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11138,
"cdna_start": 1482,
"cds_end": null,
"cds_length": 10065,
"cds_start": 1078,
"consequences": [
"synonymous_variant"
],
"exon_count": 70,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_022124.6",
"gene_hgnc_id": 13733,
"gene_symbol": "CDH23",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000224721.12",
"protein_coding": true,
"protein_id": "NP_071407.4",
"strand": true,
"transcript": "NM_022124.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 3354,
"aa_ref": "L",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11138,
"cdna_start": 1482,
"cds_end": null,
"cds_length": 10065,
"cds_start": 1078,
"consequences": [
"synonymous_variant"
],
"exon_count": 70,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000224721.12",
"gene_hgnc_id": 13733,
"gene_symbol": "CDH23",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022124.6",
"protein_coding": true,
"protein_id": "ENSP00000224721.9",
"strand": true,
"transcript": "ENST00000224721.12",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1381,
"aa_ref": "L",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4858,
"cdna_start": 1482,
"cds_end": null,
"cds_length": 4146,
"cds_start": 1078,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001171930.2",
"gene_hgnc_id": 13733,
"gene_symbol": "CDH23",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001165401.1",
"strand": true,
"transcript": "NM_001171930.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1381,
"aa_ref": "L",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4814,
"cdna_start": 1440,
"cds_end": null,
"cds_length": 4146,
"cds_start": 1078,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000616684.4",
"gene_hgnc_id": 13733,
"gene_symbol": "CDH23",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482036.2",
"strand": true,
"transcript": "ENST00000616684.4",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1380,
"aa_ref": "L",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4839,
"cdna_start": 1468,
"cds_end": null,
"cds_length": 4143,
"cds_start": 1078,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000398809.9",
"gene_hgnc_id": 13733,
"gene_symbol": "CDH23",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381789.5",
"strand": true,
"transcript": "ENST00000398809.9",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1211,
"aa_ref": "L",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8225,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 3636,
"cds_start": 1078,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000442677.4",
"gene_hgnc_id": 13733,
"gene_symbol": "CDH23",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388894.3",
"strand": true,
"transcript": "ENST00000442677.4",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1061,
"aa_ref": "L",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3971,
"cdna_start": 1482,
"cds_end": null,
"cds_length": 3186,
"cds_start": 1078,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001171931.2",
"gene_hgnc_id": 13733,
"gene_symbol": "CDH23",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001165402.1",
"strand": true,
"transcript": "NM_001171931.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1061,
"aa_ref": "L",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3954,
"cdna_start": 1465,
"cds_end": null,
"cds_length": 3186,
"cds_start": 1078,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000299366.11",
"gene_hgnc_id": 13733,
"gene_symbol": "CDH23",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000299366.8",
"strand": true,
"transcript": "ENST00000299366.11",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1034,
"aa_ref": "L",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4471,
"cdna_start": 449,
"cds_end": null,
"cds_length": 3105,
"cds_start": 448,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000466757.8",
"gene_hgnc_id": 13733,
"gene_symbol": "CDH23",
"hgvs_c": "c.448C>T",
"hgvs_p": "p.Leu150Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473539.2",
"strand": true,
"transcript": "ENST00000466757.8",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 530,
"aa_ref": "L",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2698,
"cdna_start": 1482,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1078,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_052836.4",
"gene_hgnc_id": 13733,
"gene_symbol": "CDH23",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_443068.1",
"strand": true,
"transcript": "NM_052836.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 530,
"aa_ref": "L",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2000,
"cdna_start": 1466,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1078,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000461841.7",
"gene_hgnc_id": 13733,
"gene_symbol": "CDH23",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473454.2",
"strand": true,
"transcript": "ENST00000461841.7",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 406,
"aa_ref": "L",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1750,
"cdna_start": 1482,
"cds_end": null,
"cds_length": 1221,
"cds_start": 1078,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001171932.2",
"gene_hgnc_id": 13733,
"gene_symbol": "CDH23",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001165403.1",
"strand": true,
"transcript": "NM_001171932.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 396,
"aa_ref": "L",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1403,
"cdna_start": 742,
"cds_end": null,
"cds_length": 1191,
"cds_start": 742,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000646131.1",
"gene_hgnc_id": 13733,
"gene_symbol": "CDH23",
"hgvs_c": "c.742C>T",
"hgvs_p": "p.Leu248Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495098.1",
"strand": true,
"transcript": "ENST00000646131.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 164,
"aa_ref": "L",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 704,
"cdna_start": 53,
"cds_end": null,
"cds_length": 495,
"cds_start": 52,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000470494.5",
"gene_hgnc_id": 13733,
"gene_symbol": "CDH23",
"hgvs_c": "c.52C>T",
"hgvs_p": "p.Leu18Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480146.1",
"strand": true,
"transcript": "ENST00000470494.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1450,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000643732.1",
"gene_hgnc_id": 13733,
"gene_symbol": "CDH23",
"hgvs_c": "n.854C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000643732.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs185917383",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0012447521,
"gene_hgnc_id": 13733,
"gene_symbol": "CDH23",
"gnomad_exomes_ac": 1869,
"gnomad_exomes_af": 0.00127867,
"gnomad_exomes_homalt": 26,
"gnomad_genomes_ac": 140,
"gnomad_genomes_af": 0.000919238,
"gnomad_genomes_homalt": 3,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 29,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "not specified|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1|CDH23-related disorder|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.444,
"pos": 71617337,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_022124.6"
}
]
}