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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: 19-50831634-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=50831634&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 50831634,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000598239.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "c.-31-111G>A",
"hgvs_p": null,
"transcript": "NM_017509.4",
"protein_id": "NP_059979.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": -4,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1357,
"mane_select": "ENST00000598239.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "c.-31-111G>A",
"hgvs_p": null,
"transcript": "ENST00000598239.6",
"protein_id": "ENSP00000469315.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": -4,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1357,
"mane_select": "NM_017509.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "c.-31-111G>A",
"hgvs_p": null,
"transcript": "NM_001277081.2",
"protein_id": "NP_001264010.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 255,
"cds_start": -4,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "c.-31-111G>A",
"hgvs_p": null,
"transcript": "ENST00000326856.8",
"protein_id": "ENSP00000314783.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 255,
"cds_start": -4,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "c.-31-111G>A",
"hgvs_p": null,
"transcript": "ENST00000695998.1",
"protein_id": "ENSP00000512319.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 255,
"cds_start": -4,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "c.-31-111G>A",
"hgvs_p": null,
"transcript": "ENST00000695965.1",
"protein_id": "ENSP00000512291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 171,
"cds_start": -4,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "c.-31-111G>A",
"hgvs_p": null,
"transcript": "NM_001277082.2",
"protein_id": "NP_001264011.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 160,
"cds_start": -4,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "c.-156+1465G>A",
"hgvs_p": null,
"transcript": "ENST00000598673.1",
"protein_id": "ENSP00000472523.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 42,
"cds_start": -4,
"cds_end": null,
"cds_length": 130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267968",
"gene_hgnc_id": null,
"hgvs_c": "n.213+341C>T",
"hgvs_p": null,
"transcript": "ENST00000598079.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC105372441",
"gene_hgnc_id": null,
"hgvs_c": "n.213+341C>T",
"hgvs_p": null,
"transcript": "NR_131203.1",
"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": 446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC105372441",
"gene_hgnc_id": null,
"hgvs_c": "n.230+341C>T",
"hgvs_p": null,
"transcript": "NR_131205.1",
"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": 463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "c.-31-111G>A",
"hgvs_p": null,
"transcript": "XM_011527087.3",
"protein_id": "XP_011525389.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 171,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "c.-31-111G>A",
"hgvs_p": null,
"transcript": "XM_047439064.1",
"protein_id": "XP_047295020.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": -4,
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"cds_length": 513,
"cdna_start": null,
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"cdna_length": 1099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "c.-31-111G>A",
"hgvs_p": null,
"transcript": "XM_011527088.3",
"protein_id": "XP_011525390.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "KLK15",
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"hgvs_c": "c.-31-111G>A",
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"transcript": "XM_017026943.2",
"protein_id": "XP_016882432.1",
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "c.-142G>A",
"hgvs_p": null,
"transcript": "ENST00000596931.5",
"protein_id": "ENSP00000471164.1",
"transcript_support_level": 1,
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},
{
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"protein_coding": false,
"strand": true,
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"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "KLK15",
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"hgvs_c": "n.-142G>A",
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"transcript": "ENST00000601680.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "n.-142G>A",
"hgvs_p": null,
"transcript": "ENST00000602114.1",
"protein_id": "ENSP00000468856.1",
"transcript_support_level": 1,
"aa_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "n.-142G>A",
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"transcript": "ENST00000695963.1",
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},
{
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"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "KLK15",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "n.-111G>A",
"hgvs_p": null,
"transcript": "NR_102274.1",
"protein_id": null,
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"feature": null
}
],
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"dbsnp": "rs3745523",
"frequency_reference_population": 0.26070642,
"hom_count_reference_population": 19953,
"allele_count_reference_population": 145981,
"gnomad_exomes_af": 0.256182,
"gnomad_genomes_af": 0.272858,
"gnomad_exomes_ac": 104529,
"gnomad_genomes_ac": 41452,
"gnomad_exomes_homalt": 14201,
"gnomad_genomes_homalt": 5752,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.207,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000598239.6",
"gene_symbol": "KLK15",
"hgnc_id": 20453,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-31-111G>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000598079.1",
"gene_symbol": "ENSG00000267968",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.213+341C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NR_131203.1",
"gene_symbol": "LOC105372441",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.213+341C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}