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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: 4-176115964-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=176115964&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 176115964,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_170710.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR17",
"gene_hgnc_id": 16661,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "NM_181265.4",
"protein_id": "NP_851782.3",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 1283,
"cds_start": 292,
"cds_end": null,
"cds_length": 3852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000508596.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181265.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR17",
"gene_hgnc_id": 16661,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "ENST00000508596.6",
"protein_id": "ENSP00000422763.1",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 1283,
"cds_start": 292,
"cds_end": null,
"cds_length": 3852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_181265.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508596.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR17",
"gene_hgnc_id": 16661,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Leu122Phe",
"transcript": "ENST00000280190.8",
"protein_id": "ENSP00000280190.4",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 1322,
"cds_start": 364,
"cds_end": null,
"cds_length": 3969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280190.8"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR17",
"gene_hgnc_id": 16661,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Leu122Phe",
"transcript": "NM_170710.5",
"protein_id": "NP_733828.2",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1322,
"cds_start": 364,
"cds_end": null,
"cds_length": 3969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170710.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR17",
"gene_hgnc_id": 16661,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "NM_001350727.2",
"protein_id": "NP_001337656.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 1314,
"cds_start": 292,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350727.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR17",
"gene_hgnc_id": 16661,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Leu122Phe",
"transcript": "NM_001378103.1",
"protein_id": "NP_001365032.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1314,
"cds_start": 364,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378103.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR17",
"gene_hgnc_id": 16661,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Leu122Phe",
"transcript": "ENST00000507824.6",
"protein_id": "ENSP00000422200.2",
"transcript_support_level": 5,
"aa_start": 122,
"aa_end": null,
"aa_length": 1297,
"cds_start": 364,
"cds_end": null,
"cds_length": 3894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507824.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR17",
"gene_hgnc_id": 16661,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "NM_001378104.1",
"protein_id": "NP_001365033.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 1290,
"cds_start": 292,
"cds_end": null,
"cds_length": 3873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378104.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR17",
"gene_hgnc_id": 16661,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "ENST00000939746.1",
"protein_id": "ENSP00000609805.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 1283,
"cds_start": 292,
"cds_end": null,
"cds_length": 3852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939746.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR17",
"gene_hgnc_id": 16661,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "ENST00000939747.1",
"protein_id": "ENSP00000609806.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 1283,
"cds_start": 292,
"cds_end": null,
"cds_length": 3852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939747.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR17",
"gene_hgnc_id": 16661,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "ENST00000950580.1",
"protein_id": "ENSP00000620639.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 1252,
"cds_start": 292,
"cds_end": null,
"cds_length": 3759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950580.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR17",
"gene_hgnc_id": 16661,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "ENST00000950582.1",
"protein_id": "ENSP00000620641.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 1240,
"cds_start": 292,
"cds_end": null,
"cds_length": 3723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950582.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR17",
"gene_hgnc_id": 16661,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "NM_001378105.1",
"protein_id": "NP_001365034.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 1235,
"cds_start": 292,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378105.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR17",
"gene_hgnc_id": 16661,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "NM_001378106.1",
"protein_id": "NP_001365035.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 1228,
"cds_start": 292,
"cds_end": null,
"cds_length": 3687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378106.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR17",
"gene_hgnc_id": 16661,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "ENST00000950581.1",
"protein_id": "ENSP00000620640.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 1228,
"cds_start": 292,
"cds_end": null,
"cds_length": 3687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950581.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR17",
"gene_hgnc_id": 16661,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Leu122Phe",
"transcript": "XM_024453885.2",
"protein_id": "XP_024309653.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1338,
"cds_start": 364,
"cds_end": null,
"cds_length": 4017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453885.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR17",
"gene_hgnc_id": 16661,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Leu98Phe",
"transcript": "XM_017007690.3",
"protein_id": "XP_016863179.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 1307,
"cds_start": 292,
"cds_end": null,
"cds_length": 3924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007690.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR17",
"gene_hgnc_id": 16661,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Leu122Phe",
"transcript": "XM_047449569.1",
"protein_id": "XP_047305525.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1307,
"cds_start": 364,
"cds_end": null,
"cds_length": 3924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449569.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR17",
"gene_hgnc_id": 16661,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Leu122Phe",
"transcript": "XM_047449570.1",
"protein_id": "XP_047305526.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1259,
"cds_start": 364,
"cds_end": null,
"cds_length": 3780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449570.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR17",
"gene_hgnc_id": 16661,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Leu122Phe",
"transcript": "XM_017007694.2",
"protein_id": "XP_016863183.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1252,
"cds_start": 364,
"cds_end": null,
"cds_length": 3759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007694.2"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "WDR17",
"gene_hgnc_id": 16661,
"hgvs_c": "n.196-3903C>T",
"hgvs_p": null,
"transcript": "ENST00000513261.1",
"protein_id": "ENSP00000427502.1",
"transcript_support_level": 3,
"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": "ENST00000513261.1"
}
],
"gene_symbol": "WDR17",
"gene_hgnc_id": 16661,
"dbsnp": null,
"frequency_reference_population": 6.8818485e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.88185e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7992055416107178,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.363,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1697,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.48,
"phylop100way_prediction": "Uncertain_significance",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_170710.5",
"gene_symbol": "WDR17",
"hgnc_id": 16661,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Leu122Phe"
}
],
"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
}