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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: X-49074880-CAT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=49074880&ref=CAT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 49074880,
"ref": "CAT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000376372.9",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.1004_1005delAT",
"hgvs_p": "p.Tyr335fs",
"transcript": "NM_001029896.2",
"protein_id": "NP_001025067.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 360,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": "ENST00000376372.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.1004_1005delAT",
"hgvs_p": "p.Tyr335fs",
"transcript": "ENST00000376372.9",
"protein_id": "ENSP00000365551.3",
"transcript_support_level": 1,
"aa_start": 335,
"aa_end": null,
"aa_length": 360,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": "NM_001029896.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.1007_1008delAT",
"hgvs_p": "p.Tyr336fs",
"transcript": "ENST00000356463.7",
"protein_id": "ENSP00000348848.3",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 361,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1447,
"cdna_end": null,
"cdna_length": 1688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.1007_1008delAT",
"hgvs_p": "p.Tyr336fs",
"transcript": "ENST00000376368.7",
"protein_id": "ENSP00000365546.2",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 361,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 1381,
"mane_select": null,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288053",
"gene_hgnc_id": null,
"hgvs_c": "c.521+482_521+483delAT",
"hgvs_p": null,
"transcript": "ENST00000376358.4",
"protein_id": "ENSP00000365536.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": -4,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.1037_1038delAT",
"hgvs_p": "p.Tyr346fs",
"transcript": "ENST00000322995.13",
"protein_id": "ENSP00000365543.5",
"transcript_support_level": 5,
"aa_start": 346,
"aa_end": null,
"aa_length": 371,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 1444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.1007_1008delAT",
"hgvs_p": "p.Tyr336fs",
"transcript": "NM_007075.4",
"protein_id": "NP_009006.2",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 361,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.1004_1005delAT",
"hgvs_p": "p.Tyr335fs",
"transcript": "ENST00000634944.1",
"protein_id": "ENSP00000488972.1",
"transcript_support_level": 5,
"aa_start": 335,
"aa_end": null,
"aa_length": 360,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 1745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.962_963delAT",
"hgvs_p": "p.Tyr321fs",
"transcript": "ENST00000634838.1",
"protein_id": "ENSP00000489268.1",
"transcript_support_level": 5,
"aa_start": 321,
"aa_end": null,
"aa_length": 346,
"cds_start": 962,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.899_900delAT",
"hgvs_p": "p.Tyr300fs",
"transcript": "ENST00000485908.6",
"protein_id": "ENSP00000419897.1",
"transcript_support_level": 5,
"aa_start": 300,
"aa_end": null,
"aa_length": 325,
"cds_start": 899,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 1301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.887_888delAT",
"hgvs_p": "p.Tyr296fs",
"transcript": "ENST00000396681.9",
"protein_id": "ENSP00000379913.5",
"transcript_support_level": 5,
"aa_start": 296,
"aa_end": null,
"aa_length": 321,
"cds_start": 887,
"cds_end": null,
"cds_length": 966,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 1146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.803_804delAT",
"hgvs_p": "p.Tyr268fs",
"transcript": "ENST00000635003.1",
"protein_id": "ENSP00000489080.1",
"transcript_support_level": 3,
"aa_start": 268,
"aa_end": null,
"aa_length": 293,
"cds_start": 803,
"cds_end": null,
"cds_length": 882,
"cdna_start": 938,
"cdna_end": null,
"cdna_length": 1376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.791_792delAT",
"hgvs_p": "p.Tyr264fs",
"transcript": "ENST00000634559.1",
"protein_id": "ENSP00000488986.1",
"transcript_support_level": 5,
"aa_start": 264,
"aa_end": null,
"aa_length": 289,
"cds_start": 791,
"cds_end": null,
"cds_length": 870,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 1192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.782_783delAT",
"hgvs_p": "p.Tyr261fs",
"transcript": "ENST00000367375.8",
"protein_id": "ENSP00000356345.4",
"transcript_support_level": 5,
"aa_start": 261,
"aa_end": null,
"aa_length": 286,
"cds_start": 782,
"cds_end": null,
"cds_length": 861,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.756_757delAT",
"hgvs_p": "p.Ile252fs",
"transcript": "ENST00000473974.5",
"protein_id": "ENSP00000417211.1",
"transcript_support_level": 5,
"aa_start": 252,
"aa_end": null,
"aa_length": 256,
"cds_start": 756,
"cds_end": null,
"cds_length": 771,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 1077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.354_355delAT",
"hgvs_p": "p.Ile118fs",
"transcript": "ENST00000475977.2",
"protein_id": "ENSP00000417754.2",
"transcript_support_level": 3,
"aa_start": 118,
"aa_end": null,
"aa_length": 122,
"cds_start": 354,
"cds_end": null,
"cds_length": 369,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.179_180delAT",
"hgvs_p": "p.Tyr60fs",
"transcript": "ENST00000486337.6",
"protein_id": "ENSP00000419453.2",
"transcript_support_level": 5,
"aa_start": 60,
"aa_end": null,
"aa_length": 85,
"cds_start": 179,
"cds_end": null,
"cds_length": 258,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 422,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "n.883_884delAT",
"hgvs_p": null,
"transcript": "ENST00000433252.7",
"protein_id": null,
"transcript_support_level": 2,
"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": 1096,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "n.2161_2162delAT",
"hgvs_p": null,
"transcript": "ENST00000465806.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 2610,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "n.701_702delAT",
"hgvs_p": null,
"transcript": "ENST00000634852.1",
"protein_id": null,
"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": 763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"dbsnp": "rs387907328",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.512,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000376372.9",
"gene_symbol": "WDR45",
"hgnc_id": 28912,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.1004_1005delAT",
"hgvs_p": "p.Tyr335fs"
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000376358.4",
"gene_symbol": "ENSG00000288053",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.521+482_521+483delAT",
"hgvs_p": null
}
],
"clinvar_disease": "Neurodegeneration with brain iron accumulation 5,See cases,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:8",
"phenotype_combined": "Neurodegeneration with brain iron accumulation 5|not provided|See cases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}