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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-49074850-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=49074850&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Moderate",
"PM2",
"PP5_Moderate"
],
"effects": [
"stop_gained"
],
"gene_symbol": "WDR45",
"hgnc_id": 28912,
"hgvs_c": "c.1039G>T",
"hgvs_p": "p.Glu347*",
"inheritance_mode": "XL,AD",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_007075.4",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000288053",
"hgnc_id": null,
"hgvs_c": "c.521+514G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000376358.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Moderate,PM2,PP5_Moderate",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.59,
"chr": "X",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Neurodegeneration with brain iron accumulation 5",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8830000162124634,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 360,
"aa_ref": "E",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1598,
"cdna_start": 1190,
"cds_end": null,
"cds_length": 1083,
"cds_start": 1036,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001029896.2",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.1036G>T",
"hgvs_p": "p.Glu346*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000376372.9",
"protein_coding": true,
"protein_id": "NP_001025067.1",
"strand": false,
"transcript": "NM_001029896.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 360,
"aa_ref": "E",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1598,
"cdna_start": 1190,
"cds_end": null,
"cds_length": 1083,
"cds_start": 1036,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000376372.9",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.1036G>T",
"hgvs_p": "p.Glu346*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001029896.2",
"protein_coding": true,
"protein_id": "ENSP00000365551.3",
"strand": false,
"transcript": "ENST00000376372.9",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 361,
"aa_ref": "E",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1688,
"cdna_start": 1478,
"cds_end": null,
"cds_length": 1086,
"cds_start": 1039,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000356463.7",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.1039G>T",
"hgvs_p": "p.Glu347*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348848.3",
"strand": false,
"transcript": "ENST00000356463.7",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 361,
"aa_ref": "E",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1381,
"cdna_start": 1235,
"cds_end": null,
"cds_length": 1086,
"cds_start": 1039,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000376368.7",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.1039G>T",
"hgvs_p": "p.Glu347*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365546.2",
"strand": false,
"transcript": "ENST00000376368.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 292,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1432,
"cdna_start": null,
"cds_end": null,
"cds_length": 879,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000376358.4",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288053",
"hgvs_c": "c.521+514G>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365536.3",
"strand": false,
"transcript": "ENST00000376358.4",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 380,
"aa_ref": "E",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1430,
"cdna_start": 1223,
"cds_end": null,
"cds_length": 1143,
"cds_start": 1096,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000954188.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.1096G>T",
"hgvs_p": "p.Glu366*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624247.1",
"strand": false,
"transcript": "ENST00000954188.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 378,
"aa_ref": "E",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1645,
"cdna_start": 1240,
"cds_end": null,
"cds_length": 1137,
"cds_start": 1090,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000954181.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.1090G>T",
"hgvs_p": "p.Glu364*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624240.1",
"strand": false,
"transcript": "ENST00000954181.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 372,
"aa_ref": "E",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1509,
"cdna_start": 1300,
"cds_end": null,
"cds_length": 1119,
"cds_start": 1072,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000905852.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.1072G>T",
"hgvs_p": "p.Glu358*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575911.1",
"strand": false,
"transcript": "ENST00000905852.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 372,
"aa_ref": "E",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1652,
"cdna_start": 1244,
"cds_end": null,
"cds_length": 1119,
"cds_start": 1072,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000905855.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.1072G>T",
"hgvs_p": "p.Glu358*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575914.1",
"strand": false,
"transcript": "ENST00000905855.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 372,
"aa_ref": "E",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1873,
"cdna_start": 1468,
"cds_end": null,
"cds_length": 1119,
"cds_start": 1072,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000954171.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.1072G>T",
"hgvs_p": "p.Glu358*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624230.1",
"strand": false,
"transcript": "ENST00000954171.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 371,
"aa_ref": "E",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1444,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 1116,
"cds_start": 1069,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000322995.13",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.1069G>T",
"hgvs_p": "p.Glu357*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365543.5",
"strand": false,
"transcript": "ENST00000322995.13",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 371,
"aa_ref": "E",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1664,
"cdna_start": 1258,
"cds_end": null,
"cds_length": 1116,
"cds_start": 1069,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000905853.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.1069G>T",
"hgvs_p": "p.Glu357*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575912.1",
"strand": false,
"transcript": "ENST00000905853.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 371,
"aa_ref": "E",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1405,
"cdna_start": 1197,
"cds_end": null,
"cds_length": 1116,
"cds_start": 1069,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000905865.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.1069G>T",
"hgvs_p": "p.Glu357*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575924.1",
"strand": false,
"transcript": "ENST00000905865.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 369,
"aa_ref": "E",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1421,
"cdna_start": 1213,
"cds_end": null,
"cds_length": 1110,
"cds_start": 1063,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000905870.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.1063G>T",
"hgvs_p": "p.Glu355*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575929.1",
"strand": false,
"transcript": "ENST00000905870.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 367,
"aa_ref": "E",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1437,
"cdna_start": 1228,
"cds_end": null,
"cds_length": 1104,
"cds_start": 1057,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000905864.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.1057G>T",
"hgvs_p": "p.Glu353*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575923.1",
"strand": false,
"transcript": "ENST00000905864.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 364,
"aa_ref": "E",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1427,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 1095,
"cds_start": 1048,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000954183.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.1048G>T",
"hgvs_p": "p.Glu350*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624242.1",
"strand": false,
"transcript": "ENST00000954183.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 361,
"aa_ref": "E",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1943,
"cdna_start": 1535,
"cds_end": null,
"cds_length": 1086,
"cds_start": 1039,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_007075.4",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.1039G>T",
"hgvs_p": "p.Glu347*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_009006.2",
"strand": false,
"transcript": "NM_007075.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 361,
"aa_ref": "E",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1800,
"cdna_start": 1392,
"cds_end": null,
"cds_length": 1086,
"cds_start": 1039,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000905849.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.1039G>T",
"hgvs_p": "p.Glu347*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575908.1",
"strand": false,
"transcript": "ENST00000905849.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 361,
"aa_ref": "E",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1607,
"cdna_start": 1199,
"cds_end": null,
"cds_length": 1086,
"cds_start": 1039,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000905860.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.1039G>T",
"hgvs_p": "p.Glu347*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575919.1",
"strand": false,
"transcript": "ENST00000905860.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 360,
"aa_ref": "E",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1745,
"cdna_start": 1337,
"cds_end": null,
"cds_length": 1083,
"cds_start": 1036,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000634944.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.1036G>T",
"hgvs_p": "p.Glu346*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000488972.1",
"strand": false,
"transcript": "ENST00000634944.1",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 360,
"aa_ref": "E",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1686,
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