← 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: 19-36104604-C-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36104604&ref=C&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "WDR62",
"hgnc_id": 24502,
"hgvs_c": "c.4241dupT",
"hgvs_p": "p.Ser1415fs",
"inheritance_mode": "AR",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_001083961.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_score": 11,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " autosomal recessive, primary, with or without cortical malformations,Microcephaly 2",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1523,
"aa_ref": "L",
"aa_start": 1414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4727,
"cdna_start": 4317,
"cds_end": null,
"cds_length": 4572,
"cds_start": 4242,
"consequences": [
"frameshift_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "NM_001083961.2",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.4241dupT",
"hgvs_p": "p.Ser1415fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000401500.7",
"protein_coding": true,
"protein_id": "NP_001077430.1",
"strand": true,
"transcript": "NM_001083961.2",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1523,
"aa_ref": "L",
"aa_start": 1414,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4727,
"cdna_start": 4317,
"cds_end": null,
"cds_length": 4572,
"cds_start": 4242,
"consequences": [
"frameshift_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000401500.7",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.4241dupT",
"hgvs_p": "p.Ser1415fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001083961.2",
"protein_coding": true,
"protein_id": "ENSP00000384792.1",
"strand": true,
"transcript": "ENST00000401500.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5973,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000587391.6",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "n.*4101dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000465525.1",
"strand": true,
"transcript": "ENST00000587391.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5973,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000587391.6",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "n.*4101dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000465525.1",
"strand": true,
"transcript": "ENST00000587391.6",
"transcript_support_level": 1
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1521,
"aa_ref": "L",
"aa_start": 1412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4708,
"cdna_start": 4311,
"cds_end": null,
"cds_length": 4566,
"cds_start": 4236,
"consequences": [
"frameshift_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000679714.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.4235dupT",
"hgvs_p": "p.Ser1413fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506627.1",
"strand": true,
"transcript": "ENST00000679714.1",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1518,
"aa_ref": "L",
"aa_start": 1409,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4712,
"cdna_start": 4302,
"cds_end": null,
"cds_length": 4557,
"cds_start": 4227,
"consequences": [
"frameshift_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "NM_001411145.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.4226dupT",
"hgvs_p": "p.Ser1410fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001398074.1",
"strand": true,
"transcript": "NM_001411145.1",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1518,
"aa_ref": "L",
"aa_start": 1409,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4712,
"cdna_start": 4302,
"cds_end": null,
"cds_length": 4557,
"cds_start": 4227,
"consequences": [
"frameshift_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "NM_173636.5",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.4226dupT",
"hgvs_p": "p.Ser1410fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_775907.4",
"strand": true,
"transcript": "NM_173636.5",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1518,
"aa_ref": "L",
"aa_start": 1409,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4634,
"cdna_start": 4227,
"cds_end": null,
"cds_length": 4557,
"cds_start": 4227,
"consequences": [
"frameshift_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000270301.12",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.4226dupT",
"hgvs_p": "p.Ser1410fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000270301.6",
"strand": true,
"transcript": "ENST00000270301.12",
"transcript_support_level": 5
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1518,
"aa_ref": "L",
"aa_start": 1409,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4702,
"cdna_start": 4302,
"cds_end": null,
"cds_length": 4557,
"cds_start": 4227,
"consequences": [
"frameshift_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000679682.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.4226dupT",
"hgvs_p": "p.Ser1410fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506226.1",
"strand": true,
"transcript": "ENST00000679682.1",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1440,
"aa_ref": "L",
"aa_start": 1331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4478,
"cdna_start": 4068,
"cds_end": null,
"cds_length": 4323,
"cds_start": 3993,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_001411146.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3992dupT",
"hgvs_p": "p.Ser1332fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001398075.1",
"strand": true,
"transcript": "NM_001411146.1",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1440,
"aa_ref": "L",
"aa_start": 1331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4478,
"cdna_start": 4068,
"cds_end": null,
"cds_length": 4323,
"cds_start": 3993,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000680564.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3992dupT",
"hgvs_p": "p.Ser1332fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505582.1",
"strand": true,
"transcript": "ENST00000680564.1",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1434,
"aa_ref": "L",
"aa_start": 1409,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4627,
"cdna_start": 4302,
"cds_end": null,
"cds_length": 4305,
"cds_start": 4227,
"consequences": [
"frameshift_variant"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000680403.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.4226dupT",
"hgvs_p": "p.Ser1410fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505677.1",
"strand": true,
"transcript": "ENST00000680403.1",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1406,
"aa_ref": "L",
"aa_start": 1297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4376,
"cdna_start": 3966,
"cds_end": null,
"cds_length": 4221,
"cds_start": 3891,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_001411147.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3890dupT",
"hgvs_p": "p.Ser1298fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001398076.1",
"strand": true,
"transcript": "NM_001411147.1",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1406,
"aa_ref": "L",
"aa_start": 1297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4339,
"cdna_start": 3933,
"cds_end": null,
"cds_length": 4221,
"cds_start": 3891,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000679757.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3890dupT",
"hgvs_p": "p.Ser1298fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505158.1",
"strand": true,
"transcript": "ENST00000679757.1",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 390,
"aa_ref": "L",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2066,
"cdna_start": 1656,
"cds_end": null,
"cds_length": 1173,
"cds_start": 843,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000680211.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.842dupT",
"hgvs_p": "p.Ser282fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506102.1",
"strand": true,
"transcript": "ENST00000680211.1",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1523,
"aa_ref": "L",
"aa_start": 1414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4709,
"cdna_start": 4317,
"cds_end": null,
"cds_length": 4572,
"cds_start": 4242,
"consequences": [
"frameshift_variant"
],
"exon_count": 33,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "XM_017026665.2",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.4241dupT",
"hgvs_p": "p.Ser1415fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882154.1",
"strand": true,
"transcript": "XM_017026665.2",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1513,
"aa_ref": "L",
"aa_start": 1404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4697,
"cdna_start": 4287,
"cds_end": null,
"cds_length": 4542,
"cds_start": 4212,
"consequences": [
"frameshift_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "XM_047438657.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.4211dupT",
"hgvs_p": "p.Ser1405fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294613.1",
"strand": true,
"transcript": "XM_047438657.1",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1486,
"aa_ref": "L",
"aa_start": 1377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4616,
"cdna_start": 4206,
"cds_end": null,
"cds_length": 4461,
"cds_start": 4131,
"consequences": [
"frameshift_variant"
],
"exon_count": 31,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_005258809.3",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.4130dupT",
"hgvs_p": "p.Ser1378fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005258866.1",
"strand": true,
"transcript": "XM_005258809.3",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1481,
"aa_ref": "L",
"aa_start": 1372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4601,
"cdna_start": 4191,
"cds_end": null,
"cds_length": 4446,
"cds_start": 4116,
"consequences": [
"frameshift_variant"
],
"exon_count": 31,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_047438658.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.4115dupT",
"hgvs_p": "p.Ser1373fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294614.1",
"strand": true,
"transcript": "XM_047438658.1",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1481,
"aa_ref": "L",
"aa_start": 1372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4601,
"cdna_start": 4191,
"cds_end": null,
"cds_length": 4446,
"cds_start": 4116,
"consequences": [
"frameshift_variant"
],
"exon_count": 31,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_047438659.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.4115dupT",
"hgvs_p": "p.Ser1373fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294615.1",
"strand": true,
"transcript": "XM_047438659.1",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1476,
"aa_ref": "L",
"aa_start": 1367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4586,
"cdna_start": 4176,
"cds_end": null,
"cds_length": 4431,
"cds_start": 4101,
"consequences": [
"frameshift_variant"
],
"exon_count": 31,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_047438660.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.4100dupT",
"hgvs_p": "p.Ser1368fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294616.1",
"strand": true,
"transcript": "XM_047438660.1",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1435,
"aa_ref": "L",
"aa_start": 1326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4463,
"cdna_start": 4053,
"cds_end": null,
"cds_length": 4308,
"cds_start": 3978,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_047438661.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3977dupT",
"hgvs_p": "p.Ser1327fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294617.1",
"strand": true,
"transcript": "XM_047438661.1",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1401,
"aa_ref": "L",
"aa_start": 1292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4361,
"cdna_start": 3951,
"cds_end": null,
"cds_length": 4206,
"cds_start": 3876,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_047438662.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3875dupT",
"hgvs_p": "p.Ser1293fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294618.1",
"strand": true,
"transcript": "XM_047438662.1",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1369,
"aa_ref": "L",
"aa_start": 1260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4265,
"cdna_start": 3855,
"cds_end": null,
"cds_length": 4110,
"cds_start": 3780,
"consequences": [
"frameshift_variant"
],
"exon_count": 29,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_047438663.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3779dupT",
"hgvs_p": "p.Ser1261fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294619.1",
"strand": true,
"transcript": "XM_047438663.1",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1364,
"aa_ref": "L",
"aa_start": 1255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4250,
"cdna_start": 3840,
"cds_end": null,
"cds_length": 4095,
"cds_start": 3765,
"consequences": [
"frameshift_variant"
],
"exon_count": 29,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_047438664.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3764dupT",
"hgvs_p": "p.Ser1256fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294620.1",
"strand": true,
"transcript": "XM_047438664.1",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1323,
"aa_ref": "L",
"aa_start": 1214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4127,
"cdna_start": 3717,
"cds_end": null,
"cds_length": 3972,
"cds_start": 3642,
"consequences": [
"frameshift_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_047438665.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3641dupT",
"hgvs_p": "p.Ser1215fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294621.1",
"strand": true,
"transcript": "XM_047438665.1",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1187,
"aa_ref": "L",
"aa_start": 1078,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3738,
"cdna_start": 3328,
"cds_end": null,
"cds_length": 3564,
"cds_start": 3234,
"consequences": [
"frameshift_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_011526840.3",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3233dupT",
"hgvs_p": "p.Ser1079fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525142.1",
"strand": true,
"transcript": "XM_011526840.3",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1150,
"aa_ref": "L",
"aa_start": 1041,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3627,
"cdna_start": 3217,
"cds_end": null,
"cds_length": 3453,
"cds_start": 3123,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_047438666.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3122dupT",
"hgvs_p": "p.Ser1042fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294622.1",
"strand": true,
"transcript": "XM_047438666.1",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1049,
"aa_ref": "L",
"aa_start": 940,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3360,
"cdna_start": 2950,
"cds_end": null,
"cds_length": 3150,
"cds_start": 2820,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_011526841.3",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.2819dupT",
"hgvs_p": "p.Ser941fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525143.1",
"strand": true,
"transcript": "XM_011526841.3",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1000,
"aa_ref": "L",
"aa_start": 891,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3191,
"cdna_start": 2781,
"cds_end": null,
"cds_length": 3003,
"cds_start": 2673,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_011526842.2",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.2672dupT",
"hgvs_p": "p.Ser892fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525144.1",
"strand": true,
"transcript": "XM_011526842.2",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 772,
"aa_ref": "L",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2518,
"cdna_start": 2108,
"cds_end": null,
"cds_length": 2319,
"cds_start": 1989,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011526843.2",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.1988dupT",
"hgvs_p": "p.Ser664fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525145.1",
"strand": true,
"transcript": "XM_011526843.2",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 772,
"aa_ref": "L",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2514,
"cdna_start": 2104,
"cds_end": null,
"cds_length": 2319,
"cds_start": 1989,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011526844.3",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.1988dupT",
"hgvs_p": "p.Ser664fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525146.1",
"strand": true,
"transcript": "XM_011526844.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2658,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000679357.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "n.*1213dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506376.1",
"strand": true,
"transcript": "ENST00000679357.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1397,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000679598.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "n.*45dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000504936.1",
"strand": true,
"transcript": "ENST00000679598.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5020,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000679858.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "n.*3623dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505655.1",
"strand": true,
"transcript": "ENST00000679858.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2022,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000680280.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "n.1744dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000680280.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3298,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000680349.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "n.2890dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000680349.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4655,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000680590.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "n.*2621dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505350.1",
"strand": true,
"transcript": "ENST00000680590.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1385,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000680597.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "n.*756dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505037.1",
"strand": true,
"transcript": "ENST00000680597.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1667,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000680739.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "n.*981dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505170.1",
"strand": true,
"transcript": "ENST00000680739.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3137,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000680773.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "n.2742dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000680773.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5159,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 31,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000680806.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "n.*3544dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506418.1",
"strand": true,
"transcript": "ENST00000680806.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2545,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000680997.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "n.2173dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000680997.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2456,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000681608.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "n.2086dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000681608.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4610,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000681625.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "n.*1573dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505555.1",
"strand": true,
"transcript": "ENST00000681625.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2672,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000681648.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "n.2292dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000681648.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2658,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000679357.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "n.*1213dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506376.1",
"strand": true,
"transcript": "ENST00000679357.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1397,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000679598.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "n.*45dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000504936.1",
"strand": true,
"transcript": "ENST00000679598.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5020,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 29,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000679858.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "n.*3623dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505655.1",
"strand": true,
"transcript": "ENST00000679858.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4655,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000680590.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "n.*2621dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505350.1",
"strand": true,
"transcript": "ENST00000680590.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1385,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000680597.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "n.*756dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505037.1",
"strand": true,
"transcript": "ENST00000680597.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1667,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000680739.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "n.*981dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505170.1",
"strand": true,
"transcript": "ENST00000680739.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5159,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 31,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000680806.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "n.*3544dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506418.1",
"strand": true,
"transcript": "ENST00000680806.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4610,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000681625.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "n.*1573dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505555.1",
"strand": true,
"transcript": "ENST00000681625.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs587776899",
"effect": "frameshift_variant",
"frequency_reference_population": 0.0000020523232,
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"gnomad_exomes_ac": 3,
"gnomad_exomes_af": 0.00000205232,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Microcephaly 2, primary, autosomal recessive, with or without cortical malformations",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.312,
"pos": 36104604,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001083961.2"
}
]
}