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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: 15-53609531-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=53609531&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 53609531,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000360509.10",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2934G>T",
"hgvs_p": "p.Trp978Cys",
"transcript": "NM_182758.4",
"protein_id": "NP_877435.3",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1102,
"cds_start": 2934,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 2977,
"cdna_end": null,
"cdna_length": 7310,
"mane_select": "ENST00000360509.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2934G>T",
"hgvs_p": "p.Trp978Cys",
"transcript": "ENST00000360509.10",
"protein_id": "ENSP00000353699.5",
"transcript_support_level": 1,
"aa_start": 978,
"aa_end": null,
"aa_length": 1102,
"cds_start": 2934,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 2977,
"cdna_end": null,
"cdna_length": 7310,
"mane_select": "NM_182758.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2934G>T",
"hgvs_p": "p.Trp978Cys",
"transcript": "ENST00000396328.5",
"protein_id": "ENSP00000379619.1",
"transcript_support_level": 1,
"aa_start": 978,
"aa_end": null,
"aa_length": 1102,
"cds_start": 2934,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 3174,
"cdna_end": null,
"cdna_length": 7507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2964G>T",
"hgvs_p": "p.Trp988Cys",
"transcript": "ENST00000559418.5",
"protein_id": "ENSP00000452765.1",
"transcript_support_level": 5,
"aa_start": 988,
"aa_end": null,
"aa_length": 1112,
"cds_start": 2964,
"cds_end": null,
"cds_length": 3339,
"cdna_start": 2998,
"cdna_end": null,
"cdna_length": 3602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2925G>T",
"hgvs_p": "p.Trp975Cys",
"transcript": "ENST00000557913.5",
"protein_id": "ENSP00000453378.1",
"transcript_support_level": 5,
"aa_start": 975,
"aa_end": null,
"aa_length": 1099,
"cds_start": 2925,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 2985,
"cdna_end": null,
"cdna_length": 5900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2934G>T",
"hgvs_p": "p.Trp978Cys",
"transcript": "XM_017022061.2",
"protein_id": "XP_016877550.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1102,
"cds_start": 2934,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 3135,
"cdna_end": null,
"cdna_length": 7468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2934G>T",
"hgvs_p": "p.Trp978Cys",
"transcript": "XM_047432342.1",
"protein_id": "XP_047288298.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1102,
"cds_start": 2934,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 3209,
"cdna_end": null,
"cdna_length": 7542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2934G>T",
"hgvs_p": "p.Trp978Cys",
"transcript": "XM_047432343.1",
"protein_id": "XP_047288299.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1102,
"cds_start": 2934,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 3058,
"cdna_end": null,
"cdna_length": 7391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2934G>T",
"hgvs_p": "p.Trp978Cys",
"transcript": "XM_047432344.1",
"protein_id": "XP_047288300.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1102,
"cds_start": 2934,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 3128,
"cdna_end": null,
"cdna_length": 7461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2916G>T",
"hgvs_p": "p.Trp972Cys",
"transcript": "XM_011521436.3",
"protein_id": "XP_011519738.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 1096,
"cds_start": 2916,
"cds_end": null,
"cds_length": 3291,
"cdna_start": 2959,
"cdna_end": null,
"cdna_length": 7292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.2814G>T",
"hgvs_p": "p.Trp938Cys",
"transcript": "XM_047432345.1",
"protein_id": "XP_047288301.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2814,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 3089,
"cdna_end": null,
"cdna_length": 7422,
"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": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "n.3174G>T",
"hgvs_p": null,
"transcript": "NR_102334.2",
"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": 7507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"dbsnp": "rs143816093",
"frequency_reference_population": 6.843447e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84345e-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": 0.9172048568725586,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.4399999976158142,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.56,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9773,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.79,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.44,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000360509.10",
"gene_symbol": "WDR72",
"hgnc_id": 26790,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2934G>T",
"hgvs_p": "p.Trp978Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}