← Back to variant description
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-49075239-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=49075239&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 49075239,
"ref": "G",
"alt": "C",
"effect": "stop_gained",
"transcript": "NM_007075.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.870C>G",
"hgvs_p": "p.Tyr290*",
"transcript": "NM_001029896.2",
"protein_id": "NP_001025067.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 360,
"cds_start": 870,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": "ENST00000376372.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001029896.2"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.870C>G",
"hgvs_p": "p.Tyr290*",
"transcript": "ENST00000376372.9",
"protein_id": "ENSP00000365551.3",
"transcript_support_level": 1,
"aa_start": 290,
"aa_end": null,
"aa_length": 360,
"cds_start": 870,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": "NM_001029896.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376372.9"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.873C>G",
"hgvs_p": "p.Tyr291*",
"transcript": "ENST00000356463.7",
"protein_id": "ENSP00000348848.3",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 361,
"cds_start": 873,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 1688,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356463.7"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.873C>G",
"hgvs_p": "p.Tyr291*",
"transcript": "ENST00000376368.7",
"protein_id": "ENSP00000365546.2",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 361,
"cds_start": 873,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 1381,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376368.7"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288053",
"gene_hgnc_id": null,
"hgvs_c": "c.521+125C>G",
"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": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376358.4"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.930C>G",
"hgvs_p": "p.Tyr310*",
"transcript": "ENST00000954188.1",
"protein_id": "ENSP00000624247.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 380,
"cds_start": 930,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 1430,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954188.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.924C>G",
"hgvs_p": "p.Tyr308*",
"transcript": "ENST00000954181.1",
"protein_id": "ENSP00000624240.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 378,
"cds_start": 924,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 1645,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954181.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.906C>G",
"hgvs_p": "p.Tyr302*",
"transcript": "ENST00000905852.1",
"protein_id": "ENSP00000575911.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 372,
"cds_start": 906,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 1509,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905852.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.906C>G",
"hgvs_p": "p.Tyr302*",
"transcript": "ENST00000905855.1",
"protein_id": "ENSP00000575914.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 372,
"cds_start": 906,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 1652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905855.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.906C>G",
"hgvs_p": "p.Tyr302*",
"transcript": "ENST00000954171.1",
"protein_id": "ENSP00000624230.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 372,
"cds_start": 906,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 1873,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954171.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.903C>G",
"hgvs_p": "p.Tyr301*",
"transcript": "ENST00000322995.13",
"protein_id": "ENSP00000365543.5",
"transcript_support_level": 5,
"aa_start": 301,
"aa_end": null,
"aa_length": 371,
"cds_start": 903,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 1444,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322995.13"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.903C>G",
"hgvs_p": "p.Tyr301*",
"transcript": "ENST00000905853.1",
"protein_id": "ENSP00000575912.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 371,
"cds_start": 903,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 1664,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905853.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.903C>G",
"hgvs_p": "p.Tyr301*",
"transcript": "ENST00000905865.1",
"protein_id": "ENSP00000575924.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 371,
"cds_start": 903,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 1405,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905865.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.897C>G",
"hgvs_p": "p.Tyr299*",
"transcript": "ENST00000905870.1",
"protein_id": "ENSP00000575929.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 369,
"cds_start": 897,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 1421,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905870.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.891C>G",
"hgvs_p": "p.Tyr297*",
"transcript": "ENST00000905864.1",
"protein_id": "ENSP00000575923.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 367,
"cds_start": 891,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 1437,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905864.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.882C>G",
"hgvs_p": "p.Tyr294*",
"transcript": "ENST00000954183.1",
"protein_id": "ENSP00000624242.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 364,
"cds_start": 882,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 1427,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954183.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.873C>G",
"hgvs_p": "p.Tyr291*",
"transcript": "NM_007075.4",
"protein_id": "NP_009006.2",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 361,
"cds_start": 873,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007075.4"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.873C>G",
"hgvs_p": "p.Tyr291*",
"transcript": "ENST00000905849.1",
"protein_id": "ENSP00000575908.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 361,
"cds_start": 873,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 1800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905849.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.873C>G",
"hgvs_p": "p.Tyr291*",
"transcript": "ENST00000905860.1",
"protein_id": "ENSP00000575919.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 361,
"cds_start": 873,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 1607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905860.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.870C>G",
"hgvs_p": "p.Tyr290*",
"transcript": "ENST00000634944.1",
"protein_id": "ENSP00000488972.1",
"transcript_support_level": 5,
"aa_start": 290,
"aa_end": null,
"aa_length": 360,
"cds_start": 870,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 1745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634944.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.870C>G",
"hgvs_p": "p.Tyr290*",
"transcript": "ENST00000905844.1",
"protein_id": "ENSP00000575903.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 360,
"cds_start": 870,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 1686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905844.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.870C>G",
"hgvs_p": "p.Tyr290*",
"transcript": "ENST00000905846.1",
"protein_id": "ENSP00000575905.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 360,
"cds_start": 870,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 2469,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905846.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.870C>G",
"hgvs_p": "p.Tyr290*",
"transcript": "ENST00000905847.1",
"protein_id": "ENSP00000575906.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 360,
"cds_start": 870,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1637,
"cdna_end": null,
"cdna_length": 2211,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905847.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.870C>G",
"hgvs_p": "p.Tyr290*",
"transcript": "ENST00000905848.1",
"protein_id": "ENSP00000575907.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 360,
"cds_start": 870,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 1497,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905848.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.870C>G",
"hgvs_p": "p.Tyr290*",
"transcript": "ENST00000905867.1",
"protein_id": "ENSP00000575926.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 360,
"cds_start": 870,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 1409,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905867.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.870C>G",
"hgvs_p": "p.Tyr290*",
"transcript": "ENST00000905869.1",
"protein_id": "ENSP00000575928.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 360,
"cds_start": 870,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 1351,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905869.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.870C>G",
"hgvs_p": "p.Tyr290*",
"transcript": "ENST00000918928.1",
"protein_id": "ENSP00000588987.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 360,
"cds_start": 870,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 1668,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918928.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.870C>G",
"hgvs_p": "p.Tyr290*",
"transcript": "ENST00000918929.1",
"protein_id": "ENSP00000588988.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 360,
"cds_start": 870,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 1542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918929.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.870C>G",
"hgvs_p": "p.Tyr290*",
"transcript": "ENST00000918931.1",
"protein_id": "ENSP00000588990.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 360,
"cds_start": 870,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1502,
"cdna_end": null,
"cdna_length": 2067,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918931.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.870C>G",
"hgvs_p": "p.Tyr290*",
"transcript": "ENST00000954172.1",
"protein_id": "ENSP00000624231.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 360,
"cds_start": 870,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 1894,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954172.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.870C>G",
"hgvs_p": "p.Tyr290*",
"transcript": "ENST00000954173.1",
"protein_id": "ENSP00000624232.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 360,
"cds_start": 870,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 1824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954173.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.870C>G",
"hgvs_p": "p.Tyr290*",
"transcript": "ENST00000954182.1",
"protein_id": "ENSP00000624241.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 360,
"cds_start": 870,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 1675,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954182.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.867C>G",
"hgvs_p": "p.Tyr289*",
"transcript": "ENST00000905873.1",
"protein_id": "ENSP00000575932.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 359,
"cds_start": 867,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 1319,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905873.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.861C>G",
"hgvs_p": "p.Tyr287*",
"transcript": "ENST00000905861.1",
"protein_id": "ENSP00000575920.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 357,
"cds_start": 861,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 1013,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905861.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.861C>G",
"hgvs_p": "p.Tyr287*",
"transcript": "ENST00000905872.1",
"protein_id": "ENSP00000575931.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 357,
"cds_start": 861,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 980,
"cdna_end": null,
"cdna_length": 1354,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905872.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.858C>G",
"hgvs_p": "p.Tyr286*",
"transcript": "ENST00000905845.1",
"protein_id": "ENSP00000575904.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 356,
"cds_start": 858,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 1734,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905845.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.858C>G",
"hgvs_p": "p.Tyr286*",
"transcript": "ENST00000905862.1",
"protein_id": "ENSP00000575921.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 356,
"cds_start": 858,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 1418,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905862.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.828C>G",
"hgvs_p": "p.Tyr276*",
"transcript": "ENST00000634838.1",
"protein_id": "ENSP00000489268.1",
"transcript_support_level": 5,
"aa_start": 276,
"aa_end": null,
"aa_length": 346,
"cds_start": 828,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634838.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.822C>G",
"hgvs_p": "p.Tyr274*",
"transcript": "ENST00000905868.1",
"protein_id": "ENSP00000575927.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 344,
"cds_start": 822,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 1347,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905868.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.816C>G",
"hgvs_p": "p.Tyr272*",
"transcript": "ENST00000905866.1",
"protein_id": "ENSP00000575925.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 342,
"cds_start": 816,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 1357,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905866.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.816C>G",
"hgvs_p": "p.Tyr272*",
"transcript": "ENST00000954185.1",
"protein_id": "ENSP00000624244.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 342,
"cds_start": 816,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 1341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954185.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.813C>G",
"hgvs_p": "p.Tyr271*",
"transcript": "ENST00000905854.1",
"protein_id": "ENSP00000575913.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 341,
"cds_start": 813,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 990,
"cdna_end": null,
"cdna_length": 1563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905854.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.813C>G",
"hgvs_p": "p.Tyr271*",
"transcript": "ENST00000954174.1",
"protein_id": "ENSP00000624233.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 341,
"cds_start": 813,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954174.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.813C>G",
"hgvs_p": "p.Tyr271*",
"transcript": "ENST00000954176.1",
"protein_id": "ENSP00000624235.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 341,
"cds_start": 813,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 1558,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954176.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.801C>G",
"hgvs_p": "p.Tyr267*",
"transcript": "ENST00000905858.1",
"protein_id": "ENSP00000575917.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 337,
"cds_start": 801,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 1547,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905858.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.798C>G",
"hgvs_p": "p.Tyr266*",
"transcript": "ENST00000954178.1",
"protein_id": "ENSP00000624237.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 336,
"cds_start": 798,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 1345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954178.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.783C>G",
"hgvs_p": "p.Tyr261*",
"transcript": "ENST00000905857.1",
"protein_id": "ENSP00000575916.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 331,
"cds_start": 783,
"cds_end": null,
"cds_length": 996,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 1529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905857.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.768C>G",
"hgvs_p": "p.Tyr256*",
"transcript": "ENST00000918932.1",
"protein_id": "ENSP00000588991.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 326,
"cds_start": 768,
"cds_end": null,
"cds_length": 981,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 1847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918932.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.768C>G",
"hgvs_p": "p.Tyr256*",
"transcript": "ENST00000918934.1",
"protein_id": "ENSP00000588993.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 326,
"cds_start": 768,
"cds_end": null,
"cds_length": 981,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 1307,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918934.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.768C>G",
"hgvs_p": "p.Tyr256*",
"transcript": "ENST00000954175.1",
"protein_id": "ENSP00000624234.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 326,
"cds_start": 768,
"cds_end": null,
"cds_length": 981,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 1499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954175.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.765C>G",
"hgvs_p": "p.Tyr255*",
"transcript": "ENST00000485908.6",
"protein_id": "ENSP00000419897.1",
"transcript_support_level": 5,
"aa_start": 255,
"aa_end": null,
"aa_length": 325,
"cds_start": 765,
"cds_end": null,
"cds_length": 978,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 1301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000485908.6"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.765C>G",
"hgvs_p": "p.Tyr255*",
"transcript": "ENST00000905851.1",
"protein_id": "ENSP00000575910.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 325,
"cds_start": 765,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 1481,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905851.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.765C>G",
"hgvs_p": "p.Tyr255*",
"transcript": "ENST00000905863.1",
"protein_id": "ENSP00000575922.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 325,
"cds_start": 765,
"cds_end": null,
"cds_length": 978,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 1320,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905863.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.765C>G",
"hgvs_p": "p.Tyr255*",
"transcript": "ENST00000905871.1",
"protein_id": "ENSP00000575930.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 325,
"cds_start": 765,
"cds_end": null,
"cds_length": 978,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 1219,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905871.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.765C>G",
"hgvs_p": "p.Tyr255*",
"transcript": "ENST00000918930.1",
"protein_id": "ENSP00000588989.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 325,
"cds_start": 765,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 1728,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918930.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.765C>G",
"hgvs_p": "p.Tyr255*",
"transcript": "ENST00000954184.1",
"protein_id": "ENSP00000624243.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 325,
"cds_start": 765,
"cds_end": null,
"cds_length": 978,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 1308,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954184.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.756C>G",
"hgvs_p": "p.Tyr252*",
"transcript": "ENST00000918936.1",
"protein_id": "ENSP00000588995.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 322,
"cds_start": 756,
"cds_end": null,
"cds_length": 969,
"cdna_start": 883,
"cdna_end": null,
"cdna_length": 1259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918936.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.753C>G",
"hgvs_p": "p.Tyr251*",
"transcript": "ENST00000396681.9",
"protein_id": "ENSP00000379913.5",
"transcript_support_level": 5,
"aa_start": 251,
"aa_end": null,
"aa_length": 321,
"cds_start": 753,
"cds_end": null,
"cds_length": 966,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 1146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396681.9"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.723C>G",
"hgvs_p": "p.Tyr241*",
"transcript": "ENST00000954187.1",
"protein_id": "ENSP00000624246.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 311,
"cds_start": 723,
"cds_end": null,
"cds_length": 936,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 1230,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954187.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.696C>G",
"hgvs_p": "p.Tyr232*",
"transcript": "ENST00000954179.1",
"protein_id": "ENSP00000624238.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 302,
"cds_start": 696,
"cds_end": null,
"cds_length": 909,
"cdna_start": 851,
"cdna_end": null,
"cdna_length": 1424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954179.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.678C>G",
"hgvs_p": "p.Tyr226*",
"transcript": "ENST00000905859.1",
"protein_id": "ENSP00000575918.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 296,
"cds_start": 678,
"cds_end": null,
"cds_length": 891,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 1421,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905859.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.675C>G",
"hgvs_p": "p.Tyr225*",
"transcript": "ENST00000905850.1",
"protein_id": "ENSP00000575909.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 295,
"cds_start": 675,
"cds_end": null,
"cds_length": 888,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 1395,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905850.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.675C>G",
"hgvs_p": "p.Tyr225*",
"transcript": "ENST00000905856.1",
"protein_id": "ENSP00000575915.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 295,
"cds_start": 675,
"cds_end": null,
"cds_length": 888,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 1421,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905856.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.669C>G",
"hgvs_p": "p.Tyr223*",
"transcript": "ENST00000635003.1",
"protein_id": "ENSP00000489080.1",
"transcript_support_level": 3,
"aa_start": 223,
"aa_end": null,
"aa_length": 293,
"cds_start": 669,
"cds_end": null,
"cds_length": 882,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 1376,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635003.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.669C>G",
"hgvs_p": "p.Tyr223*",
"transcript": "ENST00000954180.1",
"protein_id": "ENSP00000624239.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 293,
"cds_start": 669,
"cds_end": null,
"cds_length": 882,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 1205,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954180.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.663C>G",
"hgvs_p": "p.Tyr221*",
"transcript": "ENST00000918935.1",
"protein_id": "ENSP00000588994.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 291,
"cds_start": 663,
"cds_end": null,
"cds_length": 876,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 1188,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918935.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.657C>G",
"hgvs_p": "p.Tyr219*",
"transcript": "ENST00000634559.1",
"protein_id": "ENSP00000488986.1",
"transcript_support_level": 5,
"aa_start": 219,
"aa_end": null,
"aa_length": 289,
"cds_start": 657,
"cds_end": null,
"cds_length": 870,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 1192,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634559.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.648C>G",
"hgvs_p": "p.Tyr216*",
"transcript": "ENST00000367375.8",
"protein_id": "ENSP00000356345.4",
"transcript_support_level": 5,
"aa_start": 216,
"aa_end": null,
"aa_length": 286,
"cds_start": 648,
"cds_end": null,
"cds_length": 861,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 996,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367375.8"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.810C>G",
"hgvs_p": "p.Tyr270*",
"transcript": "ENST00000635666.1",
"protein_id": "ENSP00000489128.1",
"transcript_support_level": 5,
"aa_start": 270,
"aa_end": null,
"aa_length": 275,
"cds_start": 810,
"cds_end": null,
"cds_length": 830,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635666.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.564C>G",
"hgvs_p": "p.Tyr188*",
"transcript": "ENST00000918933.1",
"protein_id": "ENSP00000588992.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 258,
"cds_start": 564,
"cds_end": null,
"cds_length": 777,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 1480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918933.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.516C>G",
"hgvs_p": "p.Tyr172*",
"transcript": "ENST00000954186.1",
"protein_id": "ENSP00000624245.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 242,
"cds_start": 516,
"cds_end": null,
"cds_length": 729,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 1031,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954186.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.474C>G",
"hgvs_p": "p.Tyr158*",
"transcript": "ENST00000954177.1",
"protein_id": "ENSP00000624236.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 228,
"cds_start": 474,
"cds_end": null,
"cds_length": 687,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 1216,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954177.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.564C>G",
"hgvs_p": "p.Tyr188*",
"transcript": "ENST00000634736.1",
"protein_id": "ENSP00000489561.1",
"transcript_support_level": 5,
"aa_start": 188,
"aa_end": null,
"aa_length": 195,
"cds_start": 564,
"cds_end": null,
"cds_length": 590,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 757,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634736.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.57C>G",
"hgvs_p": "p.Tyr19*",
"transcript": "ENST00000486337.6",
"protein_id": "ENSP00000419453.2",
"transcript_support_level": 5,
"aa_start": 19,
"aa_end": null,
"aa_length": 85,
"cds_start": 57,
"cds_end": null,
"cds_length": 258,
"cdna_start": 58,
"cdna_end": null,
"cdna_length": 422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000486337.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.725+306C>G",
"hgvs_p": null,
"transcript": "ENST00000473974.5",
"protein_id": "ENSP00000417211.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": null,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1077,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000473974.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.323+125C>G",
"hgvs_p": null,
"transcript": "ENST00000475977.2",
"protein_id": "ENSP00000417754.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 122,
"cds_start": null,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475977.2"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "n.526C>G",
"hgvs_p": null,
"transcript": "ENST00000433252.7",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1096,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000433252.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "n.2027C>G",
"hgvs_p": null,
"transcript": "ENST00000465806.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2610,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000465806.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_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": "n.567C>G",
"hgvs_p": null,
"transcript": "ENST00000634852.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 763,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000634852.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.*125C>G",
"hgvs_p": null,
"transcript": "ENST00000475880.6",
"protein_id": "ENSP00000418919.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": null,
"cds_end": null,
"cds_length": 725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 872,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475880.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "n.*120C>G",
"hgvs_p": null,
"transcript": "ENST00000480412.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 437,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000480412.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "n.*603C>G",
"hgvs_p": null,
"transcript": "ENST00000635344.1",
"protein_id": "ENSP00000489553.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 737,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000635344.1"
}
],
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"dbsnp": "rs782557596",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.032999999821186066,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.6399999856948853,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.033,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.46,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": -0.137,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.64,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 19,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP3,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 19,
"benign_score": 0,
"pathogenic_score": 19,
"criteria": [
"PVS1",
"PM2",
"PP3",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_007075.4",
"gene_symbol": "WDR45",
"hgnc_id": 28912,
"effects": [
"stop_gained"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.873C>G",
"hgvs_p": "p.Tyr291*"
},
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PM2",
"PP3",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000376358.4",
"gene_symbol": "ENSG00000288053",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.521+125C>G",
"hgvs_p": null
}
],
"clinvar_disease": "Neurodegeneration with brain iron accumulation 5,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "not provided|Neurodegeneration with brain iron accumulation 5",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}