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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-49075866-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=49075866&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "WDR45",
"hgnc_id": 28912,
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Val173Val",
"inheritance_mode": "XL,AD",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_007075.4",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "ENSG00000288053",
"hgnc_id": null,
"hgvs_c": "c.210G>A",
"hgvs_p": "p.Val70Val",
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000376358.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "X",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Neurodegeneration with brain iron accumulation 5",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.19300000369548798,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 360,
"aa_ref": "V",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1598,
"cdna_start": 670,
"cds_end": null,
"cds_length": 1083,
"cds_start": 516,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001029896.2",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.516G>A",
"hgvs_p": "p.Val172Val",
"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": "V",
"aa_end": null,
"aa_length": 360,
"aa_ref": "V",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1598,
"cdna_start": 670,
"cds_end": null,
"cds_length": 1083,
"cds_start": 516,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000376372.9",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.516G>A",
"hgvs_p": "p.Val172Val",
"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": "V",
"aa_end": null,
"aa_length": 361,
"aa_ref": "V",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1688,
"cdna_start": 958,
"cds_end": null,
"cds_length": 1086,
"cds_start": 519,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000356463.7",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Val173Val",
"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": "V",
"aa_end": null,
"aa_length": 361,
"aa_ref": "V",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1381,
"cdna_start": 715,
"cds_end": null,
"cds_length": 1086,
"cds_start": 519,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000376368.7",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Val173Val",
"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": "V",
"aa_end": null,
"aa_length": 292,
"aa_ref": "V",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1432,
"cdna_start": 364,
"cds_end": null,
"cds_length": 879,
"cds_start": 210,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000376358.4",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288053",
"hgvs_c": "c.210G>A",
"hgvs_p": "p.Val70Val",
"intron_rank": null,
"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": "V",
"aa_end": null,
"aa_length": 380,
"aa_ref": "V",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1430,
"cdna_start": 703,
"cds_end": null,
"cds_length": 1143,
"cds_start": 576,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000954188.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.576G>A",
"hgvs_p": "p.Val192Val",
"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": "V",
"aa_end": null,
"aa_length": 378,
"aa_ref": "V",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1645,
"cdna_start": 720,
"cds_end": null,
"cds_length": 1137,
"cds_start": 570,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000954181.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.570G>A",
"hgvs_p": "p.Val190Val",
"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": "V",
"aa_end": null,
"aa_length": 372,
"aa_ref": "V",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1509,
"cdna_start": 780,
"cds_end": null,
"cds_length": 1119,
"cds_start": 552,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000905852.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.552G>A",
"hgvs_p": "p.Val184Val",
"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": "V",
"aa_end": null,
"aa_length": 372,
"aa_ref": "V",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1652,
"cdna_start": 724,
"cds_end": null,
"cds_length": 1119,
"cds_start": 552,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000905855.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.552G>A",
"hgvs_p": "p.Val184Val",
"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": "V",
"aa_end": null,
"aa_length": 372,
"aa_ref": "V",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1873,
"cdna_start": 948,
"cds_end": null,
"cds_length": 1119,
"cds_start": 552,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000954171.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.552G>A",
"hgvs_p": "p.Val184Val",
"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": "V",
"aa_end": null,
"aa_length": 371,
"aa_ref": "V",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1444,
"cdna_start": 714,
"cds_end": null,
"cds_length": 1116,
"cds_start": 549,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000322995.13",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.549G>A",
"hgvs_p": "p.Val183Val",
"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": "V",
"aa_end": null,
"aa_length": 371,
"aa_ref": "V",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1664,
"cdna_start": 738,
"cds_end": null,
"cds_length": 1116,
"cds_start": 549,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000905853.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.549G>A",
"hgvs_p": "p.Val183Val",
"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": "V",
"aa_end": null,
"aa_length": 371,
"aa_ref": "V",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1405,
"cdna_start": 677,
"cds_end": null,
"cds_length": 1116,
"cds_start": 549,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000905865.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.549G>A",
"hgvs_p": "p.Val183Val",
"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": "V",
"aa_end": null,
"aa_length": 369,
"aa_ref": "V",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1421,
"cdna_start": 693,
"cds_end": null,
"cds_length": 1110,
"cds_start": 543,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000905870.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.543G>A",
"hgvs_p": "p.Val181Val",
"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": "V",
"aa_end": null,
"aa_length": 367,
"aa_ref": "V",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1437,
"cdna_start": 720,
"cds_end": null,
"cds_length": 1104,
"cds_start": 549,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000905864.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.549G>A",
"hgvs_p": "p.Val183Val",
"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": "V",
"aa_end": null,
"aa_length": 364,
"aa_ref": "V",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1427,
"cdna_start": 699,
"cds_end": null,
"cds_length": 1095,
"cds_start": 528,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000954183.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.528G>A",
"hgvs_p": "p.Val176Val",
"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": "V",
"aa_end": null,
"aa_length": 361,
"aa_ref": "V",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1943,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 1086,
"cds_start": 519,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_007075.4",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Val173Val",
"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": "V",
"aa_end": null,
"aa_length": 361,
"aa_ref": "V",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1800,
"cdna_start": 872,
"cds_end": null,
"cds_length": 1086,
"cds_start": 519,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000905849.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Val173Val",
"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": "V",
"aa_end": null,
"aa_length": 361,
"aa_ref": "V",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1607,
"cdna_start": 679,
"cds_end": null,
"cds_length": 1086,
"cds_start": 519,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000905860.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Val173Val",
"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": "V",
"aa_end": null,
"aa_length": 360,
"aa_ref": "V",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1745,
"cdna_start": 817,
"cds_end": null,
"cds_length": 1083,
"cds_start": 516,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000634944.1",
"gene_hgnc_id": 28912,
"gene_symbol": "WDR45",
"hgvs_c": "c.516G>A",
"hgvs_p": "p.Val172Val",
"intron_rank": null,
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]
}