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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-49075142-C-CA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=49075142&ref=C&alt=CA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "WDR45",
"hgnc_id": 28912,
"hgvs_c": "c.969dupT",
"hgvs_p": "p.Val324fs",
"inheritance_mode": "XL,AD",
"pathogenic_score": 14,
"score": 14,
"transcript": "NM_007075.4",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP5_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000288053",
"hgnc_id": null,
"hgvs_c": "c.521+221dupT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 10,
"score": 10,
"transcript": "ENST00000376358.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5_Very_Strong",
"acmg_score": 14,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "X",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Neurodegeneration with brain iron accumulation 5",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S?",
"aa_end": null,
"aa_length": 360,
"aa_ref": "S",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1598,
"cdna_start": 1120,
"cds_end": null,
"cds_length": 1083,
"cds_start": 966,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001029896.2",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.966dupT",
"hgvs_p": "p.Val323fs",
"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": "S?",
"aa_end": null,
"aa_length": 360,
"aa_ref": "S",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1598,
"cdna_start": 1120,
"cds_end": null,
"cds_length": 1083,
"cds_start": 966,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000376372.9",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.966dupT",
"hgvs_p": "p.Val323fs",
"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": "S?",
"aa_end": null,
"aa_length": 361,
"aa_ref": "S",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1688,
"cdna_start": 1408,
"cds_end": null,
"cds_length": 1086,
"cds_start": 969,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000356463.7",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.969dupT",
"hgvs_p": "p.Val324fs",
"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": "S?",
"aa_end": null,
"aa_length": 361,
"aa_ref": "S",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1381,
"cdna_start": 1165,
"cds_end": null,
"cds_length": 1086,
"cds_start": 969,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000376368.7",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.969dupT",
"hgvs_p": "p.Val324fs",
"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+221dupT",
"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": "S?",
"aa_end": null,
"aa_length": 380,
"aa_ref": "S",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1430,
"cdna_start": 1153,
"cds_end": null,
"cds_length": 1143,
"cds_start": 1026,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000954188.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.1026dupT",
"hgvs_p": "p.Val343fs",
"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": "S?",
"aa_end": null,
"aa_length": 378,
"aa_ref": "S",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1645,
"cdna_start": 1170,
"cds_end": null,
"cds_length": 1137,
"cds_start": 1020,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000954181.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.1020dupT",
"hgvs_p": "p.Val341fs",
"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": "S?",
"aa_end": null,
"aa_length": 372,
"aa_ref": "S",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1509,
"cdna_start": 1230,
"cds_end": null,
"cds_length": 1119,
"cds_start": 1002,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000905852.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.1002dupT",
"hgvs_p": "p.Val335fs",
"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": "S?",
"aa_end": null,
"aa_length": 372,
"aa_ref": "S",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1652,
"cdna_start": 1174,
"cds_end": null,
"cds_length": 1119,
"cds_start": 1002,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000905855.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.1002dupT",
"hgvs_p": "p.Val335fs",
"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": "S?",
"aa_end": null,
"aa_length": 372,
"aa_ref": "S",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1873,
"cdna_start": 1398,
"cds_end": null,
"cds_length": 1119,
"cds_start": 1002,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000954171.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.1002dupT",
"hgvs_p": "p.Val335fs",
"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": "S?",
"aa_end": null,
"aa_length": 371,
"aa_ref": "S",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1444,
"cdna_start": 1164,
"cds_end": null,
"cds_length": 1116,
"cds_start": 999,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000322995.13",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.999dupT",
"hgvs_p": "p.Val334fs",
"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": "S?",
"aa_end": null,
"aa_length": 371,
"aa_ref": "S",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1664,
"cdna_start": 1188,
"cds_end": null,
"cds_length": 1116,
"cds_start": 999,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000905853.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.999dupT",
"hgvs_p": "p.Val334fs",
"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": "S?",
"aa_end": null,
"aa_length": 371,
"aa_ref": "S",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1405,
"cdna_start": 1127,
"cds_end": null,
"cds_length": 1116,
"cds_start": 999,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000905865.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.999dupT",
"hgvs_p": "p.Val334fs",
"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": "S?",
"aa_end": null,
"aa_length": 369,
"aa_ref": "S",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1421,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 1110,
"cds_start": 993,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000905870.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.993dupT",
"hgvs_p": "p.Val332fs",
"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": "S?",
"aa_end": null,
"aa_length": 367,
"aa_ref": "S",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1437,
"cdna_start": 1158,
"cds_end": null,
"cds_length": 1104,
"cds_start": 987,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000905864.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.987dupT",
"hgvs_p": "p.Val330fs",
"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": "S?",
"aa_end": null,
"aa_length": 364,
"aa_ref": "S",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1427,
"cdna_start": 1149,
"cds_end": null,
"cds_length": 1095,
"cds_start": 978,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000954183.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.978dupT",
"hgvs_p": "p.Val327fs",
"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": "S?",
"aa_end": null,
"aa_length": 361,
"aa_ref": "S",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1943,
"cdna_start": 1465,
"cds_end": null,
"cds_length": 1086,
"cds_start": 969,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_007075.4",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.969dupT",
"hgvs_p": "p.Val324fs",
"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": "S?",
"aa_end": null,
"aa_length": 361,
"aa_ref": "S",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1800,
"cdna_start": 1322,
"cds_end": null,
"cds_length": 1086,
"cds_start": 969,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000905849.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.969dupT",
"hgvs_p": "p.Val324fs",
"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": "S?",
"aa_end": null,
"aa_length": 361,
"aa_ref": "S",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1607,
"cdna_start": 1129,
"cds_end": null,
"cds_length": 1086,
"cds_start": 969,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000905860.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.969dupT",
"hgvs_p": "p.Val324fs",
"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": "S?",
"aa_end": null,
"aa_length": 360,
"aa_ref": "S",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1745,
"cdna_start": 1267,
"cds_end": null,
"cds_length": 1083,
"cds_start": 966,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000634944.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.966dupT",
"hgvs_p": "p.Val323fs",
"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": "S?",
"aa_end": null,
"aa_length": 360,
"aa_ref": "S",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1686,
"cdna_start": 1208,
"cds_end": null,
"cds_length": 1083,
"cds_start": 966,
"consequences": [
"frameshift_variant"
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