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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-49076732-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=49076732&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 49076732,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000376372.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.254C>T",
"hgvs_p": "p.Ala85Val",
"transcript": "NM_001029896.2",
"protein_id": "NP_001025067.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 360,
"cds_start": 254,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": "ENST00000376372.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.254C>T",
"hgvs_p": "p.Ala85Val",
"transcript": "ENST00000376372.9",
"protein_id": "ENSP00000365551.3",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 360,
"cds_start": 254,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": "NM_001029896.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"transcript": "ENST00000356463.7",
"protein_id": "ENSP00000348848.3",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 361,
"cds_start": 257,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 1688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"transcript": "ENST00000376368.7",
"protein_id": "ENSP00000365546.2",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 361,
"cds_start": 257,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 453,
"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.131-787C>T",
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.254C>T",
"hgvs_p": "p.Ala85Val",
"transcript": "ENST00000322995.13",
"protein_id": "ENSP00000365543.5",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 371,
"cds_start": 254,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 1444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"transcript": "NM_007075.4",
"protein_id": "NP_009006.2",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 361,
"cds_start": 257,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.254C>T",
"hgvs_p": "p.Ala85Val",
"transcript": "ENST00000634944.1",
"protein_id": "ENSP00000488972.1",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 360,
"cds_start": 254,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 1745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.254C>T",
"hgvs_p": "p.Ala85Val",
"transcript": "ENST00000634838.1",
"protein_id": "ENSP00000489268.1",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 346,
"cds_start": 254,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 402,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Ala50Val",
"transcript": "ENST00000485908.6",
"protein_id": "ENSP00000419897.1",
"transcript_support_level": 5,
"aa_start": 50,
"aa_end": null,
"aa_length": 325,
"cds_start": 149,
"cds_end": null,
"cds_length": 978,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 1301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Ala50Val",
"transcript": "ENST00000396681.9",
"protein_id": "ENSP00000379913.5",
"transcript_support_level": 5,
"aa_start": 50,
"aa_end": null,
"aa_length": 321,
"cds_start": 149,
"cds_end": null,
"cds_length": 966,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 1146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Ala41Val",
"transcript": "ENST00000367375.8",
"protein_id": "ENSP00000356345.4",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 286,
"cds_start": 122,
"cds_end": null,
"cds_length": 861,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.182C>T",
"hgvs_p": "p.Ala61Val",
"transcript": "ENST00000635666.1",
"protein_id": "ENSP00000489128.1",
"transcript_support_level": 5,
"aa_start": 61,
"aa_end": null,
"aa_length": 275,
"cds_start": 182,
"cds_end": null,
"cds_length": 830,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.254C>T",
"hgvs_p": "p.Ala85Val",
"transcript": "ENST00000473974.5",
"protein_id": "ENSP00000417211.1",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 256,
"cds_start": 254,
"cds_end": null,
"cds_length": 771,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 1077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.152C>T",
"hgvs_p": "p.Ala51Val",
"transcript": "ENST00000475880.6",
"protein_id": "ENSP00000418919.2",
"transcript_support_level": 5,
"aa_start": 51,
"aa_end": null,
"aa_length": 240,
"cds_start": 152,
"cds_end": null,
"cds_length": 725,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.329C>T",
"hgvs_p": "p.Ala110Val",
"transcript": "ENST00000474053.6",
"protein_id": "ENSP00000420728.1",
"transcript_support_level": 5,
"aa_start": 110,
"aa_end": null,
"aa_length": 212,
"cds_start": 329,
"cds_end": null,
"cds_length": 641,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.254C>T",
"hgvs_p": "p.Ala85Val",
"transcript": "ENST00000419567.7",
"protein_id": "ENSP00000393640.3",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 207,
"cds_start": 254,
"cds_end": null,
"cds_length": 626,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.308C>T",
"hgvs_p": "p.Ala103Val",
"transcript": "ENST00000423215.3",
"protein_id": "ENSP00000397657.3",
"transcript_support_level": 5,
"aa_start": 103,
"aa_end": null,
"aa_length": 193,
"cds_start": 308,
"cds_end": null,
"cds_length": 584,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.254C>T",
"hgvs_p": "p.Ala85Val",
"transcript": "ENST00000471338.6",
"protein_id": "ENSP00000418466.2",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 174,
"cds_start": 254,
"cds_end": null,
"cds_length": 525,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.323C>T",
"hgvs_p": "p.Ala108Val",
"transcript": "ENST00000634849.1",
"protein_id": "ENSP00000489150.1",
"transcript_support_level": 3,
"aa_start": 108,
"aa_end": null,
"aa_length": 161,
"cds_start": 323,
"cds_end": null,
"cds_length": 488,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.254C>T",
"hgvs_p": "p.Ala85Val",
"transcript": "ENST00000465382.6",
"protein_id": "ENSP00000420534.1",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 157,
"cds_start": 254,
"cds_end": null,
"cds_length": 476,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Ala50Val",
"transcript": "ENST00000476728.5",
"protein_id": "ENSP00000419324.1",
"transcript_support_level": 4,
"aa_start": 50,
"aa_end": null,
"aa_length": 137,
"cds_start": 149,
"cds_end": null,
"cds_length": 415,
"cdna_start": 303,
"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": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "n.1411C>T",
"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,
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Pathogenic",
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"acmg_score": -6,
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{
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"verdict": "Likely_benign",
"transcript": "ENST00000376372.9",
"gene_symbol": "WDR45",
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"effects": [
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],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.254C>T",
"hgvs_p": "p.Ala85Val"
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{
"score": -6,
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"verdict": "Likely_benign",
"transcript": "ENST00000376358.4",
"gene_symbol": "ENSG00000288053",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "Neurodegeneration with brain iron accumulation 5,Oculocutaneous albinism type 7,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Neurodegeneration with brain iron accumulation 5|Neurodegeneration with brain iron accumulation 5;Oculocutaneous albinism type 7|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}