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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: 19-50827150-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=50827150&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 50827150,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_017509.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Val70Ala",
"transcript": "NM_017509.4",
"protein_id": "NP_059979.2",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 256,
"cds_start": 209,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000598239.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017509.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Val70Ala",
"transcript": "ENST00000598239.6",
"protein_id": "ENSP00000469315.1",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 256,
"cds_start": 209,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017509.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598239.6"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "c.206T>C",
"hgvs_p": "p.Val69Ala",
"transcript": "ENST00000596931.5",
"protein_id": "ENSP00000471164.1",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 160,
"cds_start": 206,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596931.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "n.209T>C",
"hgvs_p": null,
"transcript": "ENST00000601680.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000601680.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "n.206T>C",
"hgvs_p": null,
"transcript": "ENST00000602114.1",
"protein_id": "ENSP00000468856.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000602114.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Val70Ala",
"transcript": "ENST00000906215.1",
"protein_id": "ENSP00000576274.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 256,
"cds_start": 209,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906215.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Val70Ala",
"transcript": "ENST00000952480.1",
"protein_id": "ENSP00000622539.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 256,
"cds_start": 209,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952480.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "c.206T>C",
"hgvs_p": "p.Val69Ala",
"transcript": "NM_001277081.2",
"protein_id": "NP_001264010.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 255,
"cds_start": 206,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277081.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "c.206T>C",
"hgvs_p": "p.Val69Ala",
"transcript": "ENST00000326856.8",
"protein_id": "ENSP00000314783.4",
"transcript_support_level": 5,
"aa_start": 69,
"aa_end": null,
"aa_length": 255,
"cds_start": 206,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326856.8"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "c.206T>C",
"hgvs_p": "p.Val69Ala",
"transcript": "ENST00000695998.1",
"protein_id": "ENSP00000512319.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 255,
"cds_start": 206,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695998.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "c.206T>C",
"hgvs_p": "p.Val69Ala",
"transcript": "ENST00000906216.1",
"protein_id": "ENSP00000576275.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 255,
"cds_start": 206,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906216.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Val70Ala",
"transcript": "ENST00000695965.1",
"protein_id": "ENSP00000512291.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 171,
"cds_start": 209,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695965.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "c.206T>C",
"hgvs_p": "p.Val69Ala",
"transcript": "NM_001277082.2",
"protein_id": "NP_001264011.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 160,
"cds_start": 206,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277082.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "c.8T>C",
"hgvs_p": "p.Val3Ala",
"transcript": "ENST00000598673.1",
"protein_id": "ENSP00000472523.1",
"transcript_support_level": 2,
"aa_start": 3,
"aa_end": null,
"aa_length": 42,
"cds_start": 8,
"cds_end": null,
"cds_length": 130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598673.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Val70Ala",
"transcript": "XM_011527087.3",
"protein_id": "XP_011525389.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 171,
"cds_start": 209,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527087.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "c.206T>C",
"hgvs_p": "p.Val69Ala",
"transcript": "XM_047439064.1",
"protein_id": "XP_047295020.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 170,
"cds_start": 206,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439064.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Val70Ala",
"transcript": "XM_011527088.3",
"protein_id": "XP_011525390.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 161,
"cds_start": 209,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527088.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Val70Ala",
"transcript": "XM_017026943.2",
"protein_id": "XP_016882432.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 121,
"cds_start": 209,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026943.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "n.2T>C",
"hgvs_p": null,
"transcript": "ENST00000596531.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000596531.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "n.55T>C",
"hgvs_p": null,
"transcript": "ENST00000695963.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000695963.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "n.55T>C",
"hgvs_p": null,
"transcript": "ENST00000695964.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000695964.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"hgvs_c": "n.237T>C",
"hgvs_p": null,
"transcript": "NR_102274.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_102274.1"
}
],
"gene_symbol": "KLK15",
"gene_hgnc_id": 20453,
"dbsnp": "rs779144247",
"frequency_reference_population": 0.000034669913,
"hom_count_reference_population": 0,
"allele_count_reference_population": 55,
"gnomad_exomes_af": 0.00003207,
"gnomad_genomes_af": 0.0000592004,
"gnomad_exomes_ac": 46,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6750059127807617,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.309,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3406,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.486,
"phylop100way_prediction": "Benign",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017509.4",
"gene_symbol": "KLK15",
"hgnc_id": 20453,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Val70Ala"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}