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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: 17-3524202-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=3524202&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 3524202,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000576742.6",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV3",
"gene_hgnc_id": 18084,
"hgvs_c": "c.1739A>C",
"hgvs_p": "p.Gln580Pro",
"transcript": "NM_145068.4",
"protein_id": "NP_659505.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 790,
"cds_start": 1739,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1878,
"cdna_end": null,
"cdna_length": 5927,
"mane_select": "ENST00000576742.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV3",
"gene_hgnc_id": 18084,
"hgvs_c": "c.1739A>C",
"hgvs_p": "p.Gln580Pro",
"transcript": "ENST00000576742.6",
"protein_id": "ENSP00000461518.2",
"transcript_support_level": 1,
"aa_start": 580,
"aa_end": null,
"aa_length": 790,
"cds_start": 1739,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1878,
"cdna_end": null,
"cdna_length": 5927,
"mane_select": "NM_145068.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV3",
"gene_hgnc_id": 18084,
"hgvs_c": "c.1739A>C",
"hgvs_p": "p.Gln580Pro",
"transcript": "ENST00000301365.8",
"protein_id": "ENSP00000301365.4",
"transcript_support_level": 1,
"aa_start": 580,
"aa_end": null,
"aa_length": 791,
"cds_start": 1739,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 1871,
"cdna_end": null,
"cdna_length": 3235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV3",
"gene_hgnc_id": 18084,
"hgvs_c": "c.1739A>C",
"hgvs_p": "p.Gln580Pro",
"transcript": "ENST00000572519.1",
"protein_id": "ENSP00000460215.1",
"transcript_support_level": 1,
"aa_start": 580,
"aa_end": null,
"aa_length": 765,
"cds_start": 1739,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 1871,
"cdna_end": null,
"cdna_length": 2937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV3",
"gene_hgnc_id": 18084,
"hgvs_c": "n.999A>C",
"hgvs_p": null,
"transcript": "ENST00000381913.8",
"protein_id": "ENSP00000371338.4",
"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": 5050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV3",
"gene_hgnc_id": 18084,
"hgvs_c": "n.*1731A>C",
"hgvs_p": null,
"transcript": "ENST00000571139.5",
"protein_id": "ENSP00000458187.1",
"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": 2726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV3",
"gene_hgnc_id": 18084,
"hgvs_c": "n.*1749A>C",
"hgvs_p": null,
"transcript": "ENST00000573539.5",
"protein_id": "ENSP00000458239.1",
"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": 2744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV3",
"gene_hgnc_id": 18084,
"hgvs_c": "n.*1731A>C",
"hgvs_p": null,
"transcript": "ENST00000571139.5",
"protein_id": "ENSP00000458187.1",
"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": 2726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV3",
"gene_hgnc_id": 18084,
"hgvs_c": "n.*1749A>C",
"hgvs_p": null,
"transcript": "ENST00000573539.5",
"protein_id": "ENSP00000458239.1",
"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": 2744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV3",
"gene_hgnc_id": 18084,
"hgvs_c": "c.1739A>C",
"hgvs_p": "p.Gln580Pro",
"transcript": "NM_001258205.2",
"protein_id": "NP_001245134.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 791,
"cds_start": 1739,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 1878,
"cdna_end": null,
"cdna_length": 5930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV3",
"gene_hgnc_id": 18084,
"hgvs_c": "c.1691A>C",
"hgvs_p": "p.Gln564Pro",
"transcript": "ENST00000616411.4",
"protein_id": "ENSP00000483947.1",
"transcript_support_level": 5,
"aa_start": 564,
"aa_end": null,
"aa_length": 775,
"cds_start": 1691,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1691,
"cdna_end": null,
"cdna_length": 5742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRPV3",
"gene_hgnc_id": 18084,
"hgvs_c": "n.326+2652A>C",
"hgvs_p": null,
"transcript": "ENST00000577016.5",
"protein_id": "ENSP00000460856.1",
"transcript_support_level": 5,
"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": 1621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRPV3",
"gene_hgnc_id": 18084,
"dbsnp": "rs786205869",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9114384651184082,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.987,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.974,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.42,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.572,
"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": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM1",
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000576742.6",
"gene_symbol": "TRPV3",
"hgnc_id": 18084,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1739A>C",
"hgvs_p": "p.Gln580Pro"
}
],
"clinvar_disease": "Isolated focal non-epidermolytic palmoplantar keratoderma",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Isolated focal non-epidermolytic palmoplantar keratoderma",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}