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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: 10-71812874-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=71812874&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 71812874,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000224721.12",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 68,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH23",
"gene_hgnc_id": 13733,
"hgvs_c": "c.9617G>A",
"hgvs_p": "p.Arg3206His",
"transcript": "NM_022124.6",
"protein_id": "NP_071407.4",
"transcript_support_level": null,
"aa_start": 3206,
"aa_end": null,
"aa_length": 3354,
"cds_start": 9617,
"cds_end": null,
"cds_length": 10065,
"cdna_start": 10021,
"cdna_end": null,
"cdna_length": 11138,
"mane_select": "ENST00000224721.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 68,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH23",
"gene_hgnc_id": 13733,
"hgvs_c": "c.9617G>A",
"hgvs_p": "p.Arg3206His",
"transcript": "ENST00000224721.12",
"protein_id": "ENSP00000224721.9",
"transcript_support_level": 5,
"aa_start": 3206,
"aa_end": null,
"aa_length": 3354,
"cds_start": 9617,
"cds_end": null,
"cds_length": 10065,
"cdna_start": 10021,
"cdna_end": null,
"cdna_length": 11138,
"mane_select": "NM_022124.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH23",
"gene_hgnc_id": 13733,
"hgvs_c": "c.2897G>A",
"hgvs_p": "p.Arg966His",
"transcript": "ENST00000398788.4",
"protein_id": "ENSP00000381768.3",
"transcript_support_level": 1,
"aa_start": 966,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2897,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 3214,
"cdna_end": null,
"cdna_length": 4329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH23",
"gene_hgnc_id": 13733,
"hgvs_c": "c.2897G>A",
"hgvs_p": "p.Arg966His",
"transcript": "ENST00000619887.4",
"protein_id": "ENSP00000478374.1",
"transcript_support_level": 1,
"aa_start": 966,
"aa_end": null,
"aa_length": 1079,
"cds_start": 2897,
"cds_end": null,
"cds_length": 3240,
"cdna_start": 3214,
"cdna_end": null,
"cdna_length": 4224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH23",
"gene_hgnc_id": 13733,
"hgvs_c": "n.3153G>A",
"hgvs_p": null,
"transcript": "ENST00000475158.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH23",
"gene_hgnc_id": 13733,
"hgvs_c": "c.2897G>A",
"hgvs_p": "p.Arg966His",
"transcript": "NM_001171933.1",
"protein_id": "NP_001165404.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2897,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 3214,
"cdna_end": null,
"cdna_length": 4331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH23",
"gene_hgnc_id": 13733,
"hgvs_c": "c.2897G>A",
"hgvs_p": "p.Arg966His",
"transcript": "NM_001171934.1",
"protein_id": "NP_001165405.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 1079,
"cds_start": 2897,
"cds_end": null,
"cds_length": 3240,
"cdna_start": 3214,
"cdna_end": null,
"cdna_length": 4226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH23",
"gene_hgnc_id": 13733,
"hgvs_c": "c.308G>A",
"hgvs_p": "p.Arg103His",
"transcript": "NM_001171935.1",
"protein_id": "NP_001165406.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 251,
"cds_start": 308,
"cds_end": null,
"cds_length": 756,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH23",
"gene_hgnc_id": 13733,
"hgvs_c": "c.308G>A",
"hgvs_p": "p.Arg103His",
"transcript": "NM_001171936.1",
"protein_id": "NP_001165407.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 216,
"cds_start": 308,
"cds_end": null,
"cds_length": 651,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 1729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH23",
"gene_hgnc_id": 13733,
"hgvs_c": "n.*3460G>A",
"hgvs_p": null,
"transcript": "ENST00000642965.1",
"protein_id": "ENSP00000495222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH23",
"gene_hgnc_id": 13733,
"hgvs_c": "n.*3193G>A",
"hgvs_p": null,
"transcript": "ENST00000647092.1",
"protein_id": "ENSP00000495176.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH23",
"gene_hgnc_id": 13733,
"hgvs_c": "n.*3460G>A",
"hgvs_p": null,
"transcript": "ENST00000642965.1",
"protein_id": "ENSP00000495222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH23",
"gene_hgnc_id": 13733,
"hgvs_c": "n.*3193G>A",
"hgvs_p": null,
"transcript": "ENST00000647092.1",
"protein_id": "ENSP00000495176.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124902446",
"gene_hgnc_id": null,
"hgvs_c": "n.-116C>T",
"hgvs_p": null,
"transcript": "XR_007062185.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CDH23",
"gene_hgnc_id": 13733,
"dbsnp": "rs374156784",
"frequency_reference_population": 0.0001028753,
"hom_count_reference_population": 0,
"allele_count_reference_population": 166,
"gnomad_exomes_af": 0.0000821209,
"gnomad_genomes_af": 0.000301948,
"gnomad_exomes_ac": 120,
"gnomad_genomes_ac": 46,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21128720045089722,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.594,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2542,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.922,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS1",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000224721.12",
"gene_symbol": "CDH23",
"hgnc_id": 13733,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.9617G>A",
"hgvs_p": "p.Arg3206His"
},
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "XR_007062185.1",
"gene_symbol": "LOC124902446",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-116C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Usher syndrome type 1,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"phenotype_combined": "not specified|not provided|Usher syndrome type 1",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}