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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-49076468-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=49076468&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 49076468,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000376372.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "NM_001029896.2",
"protein_id": "NP_001025067.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 360,
"cds_start": 398,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": "ENST00000376372.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "ENST00000376372.9",
"protein_id": "ENSP00000365551.3",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 360,
"cds_start": 398,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": "NM_001029896.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.401G>A",
"hgvs_p": "p.Arg134Gln",
"transcript": "ENST00000356463.7",
"protein_id": "ENSP00000348848.3",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 361,
"cds_start": 401,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 1688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.401G>A",
"hgvs_p": "p.Arg134Gln",
"transcript": "ENST00000376368.7",
"protein_id": "ENSP00000365546.2",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 361,
"cds_start": 401,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 597,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288053",
"gene_hgnc_id": null,
"hgvs_c": "c.131-523G>A",
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "ENST00000322995.13",
"protein_id": "ENSP00000365543.5",
"transcript_support_level": 5,
"aa_start": 133,
"aa_end": null,
"aa_length": 371,
"cds_start": 398,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 1444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.401G>A",
"hgvs_p": "p.Arg134Gln",
"transcript": "NM_007075.4",
"protein_id": "NP_009006.2",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 361,
"cds_start": 401,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 897,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "ENST00000634944.1",
"protein_id": "ENSP00000488972.1",
"transcript_support_level": 5,
"aa_start": 133,
"aa_end": null,
"aa_length": 360,
"cds_start": 398,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 1745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "ENST00000634838.1",
"protein_id": "ENSP00000489268.1",
"transcript_support_level": 5,
"aa_start": 133,
"aa_end": null,
"aa_length": 346,
"cds_start": 398,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98Gln",
"transcript": "ENST00000485908.6",
"protein_id": "ENSP00000419897.1",
"transcript_support_level": 5,
"aa_start": 98,
"aa_end": null,
"aa_length": 325,
"cds_start": 293,
"cds_end": null,
"cds_length": 978,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98Gln",
"transcript": "ENST00000396681.9",
"protein_id": "ENSP00000379913.5",
"transcript_support_level": 5,
"aa_start": 98,
"aa_end": null,
"aa_length": 321,
"cds_start": 293,
"cds_end": null,
"cds_length": 966,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 1146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"transcript": "ENST00000367375.8",
"protein_id": "ENSP00000356345.4",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 286,
"cds_start": 266,
"cds_end": null,
"cds_length": 861,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.326G>A",
"hgvs_p": "p.Arg109Gln",
"transcript": "ENST00000635666.1",
"protein_id": "ENSP00000489128.1",
"transcript_support_level": 5,
"aa_start": 109,
"aa_end": null,
"aa_length": 275,
"cds_start": 326,
"cds_end": null,
"cds_length": 830,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "ENST00000473974.5",
"protein_id": "ENSP00000417211.1",
"transcript_support_level": 5,
"aa_start": 133,
"aa_end": null,
"aa_length": 256,
"cds_start": 398,
"cds_end": null,
"cds_length": 771,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 1077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.296G>A",
"hgvs_p": "p.Arg99Gln",
"transcript": "ENST00000475880.6",
"protein_id": "ENSP00000418919.2",
"transcript_support_level": 5,
"aa_start": 99,
"aa_end": null,
"aa_length": 240,
"cds_start": 296,
"cds_end": null,
"cds_length": 725,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158Gln",
"transcript": "ENST00000474053.6",
"protein_id": "ENSP00000420728.1",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 212,
"cds_start": 473,
"cds_end": null,
"cds_length": 641,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "ENST00000419567.7",
"protein_id": "ENSP00000393640.3",
"transcript_support_level": 5,
"aa_start": 133,
"aa_end": null,
"aa_length": 207,
"cds_start": 398,
"cds_end": null,
"cds_length": 626,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Arg151Gln",
"transcript": "ENST00000423215.3",
"protein_id": "ENSP00000397657.3",
"transcript_support_level": 5,
"aa_start": 151,
"aa_end": null,
"aa_length": 193,
"cds_start": 452,
"cds_end": null,
"cds_length": 584,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "ENST00000471338.6",
"protein_id": "ENSP00000418466.2",
"transcript_support_level": 5,
"aa_start": 133,
"aa_end": null,
"aa_length": 174,
"cds_start": 398,
"cds_end": null,
"cds_length": 525,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.467G>A",
"hgvs_p": "p.Arg156Gln",
"transcript": "ENST00000634849.1",
"protein_id": "ENSP00000489150.1",
"transcript_support_level": 3,
"aa_start": 156,
"aa_end": null,
"aa_length": 161,
"cds_start": 467,
"cds_end": null,
"cds_length": 488,
"cdna_start": 897,
"cdna_end": null,
"cdna_length": 918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "ENST00000465382.6",
"protein_id": "ENSP00000420534.1",
"transcript_support_level": 5,
"aa_start": 133,
"aa_end": null,
"aa_length": 157,
"cds_start": 398,
"cds_end": null,
"cds_length": 476,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98Gln",
"transcript": "ENST00000476728.5",
"protein_id": "ENSP00000419324.1",
"transcript_support_level": 4,
"aa_start": 98,
"aa_end": null,
"aa_length": 137,
"cds_start": 293,
"cds_end": null,
"cds_length": 415,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 569,
"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": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "n.1555G>A",
"hgvs_p": null,
"transcript": "ENST00000465806.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
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{
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"verdict": "Benign",
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"effects": [
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{
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],
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"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Neurodegeneration with brain iron accumulation 5",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}