← 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: 19-36103951-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36103951&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 36103951,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000401500.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4123G>A",
"hgvs_p": "p.Gly1375Ser",
"transcript": "NM_001083961.2",
"protein_id": "NP_001077430.1",
"transcript_support_level": null,
"aa_start": 1375,
"aa_end": null,
"aa_length": 1523,
"cds_start": 4123,
"cds_end": null,
"cds_length": 4572,
"cdna_start": 4198,
"cdna_end": null,
"cdna_length": 4727,
"mane_select": "ENST00000401500.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4123G>A",
"hgvs_p": "p.Gly1375Ser",
"transcript": "ENST00000401500.7",
"protein_id": "ENSP00000384792.1",
"transcript_support_level": 1,
"aa_start": 1375,
"aa_end": null,
"aa_length": 1523,
"cds_start": 4123,
"cds_end": null,
"cds_length": 4572,
"cdna_start": 4198,
"cdna_end": null,
"cdna_length": 4727,
"mane_select": "NM_001083961.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.*3983G>A",
"hgvs_p": null,
"transcript": "ENST00000587391.6",
"protein_id": "ENSP00000465525.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.*3983G>A",
"hgvs_p": null,
"transcript": "ENST00000587391.6",
"protein_id": "ENSP00000465525.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4117G>A",
"hgvs_p": "p.Gly1373Ser",
"transcript": "ENST00000679714.1",
"protein_id": "ENSP00000506627.1",
"transcript_support_level": null,
"aa_start": 1373,
"aa_end": null,
"aa_length": 1521,
"cds_start": 4117,
"cds_end": null,
"cds_length": 4566,
"cdna_start": 4192,
"cdna_end": null,
"cdna_length": 4708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4108G>A",
"hgvs_p": "p.Gly1370Ser",
"transcript": "NM_001411145.1",
"protein_id": "NP_001398074.1",
"transcript_support_level": null,
"aa_start": 1370,
"aa_end": null,
"aa_length": 1518,
"cds_start": 4108,
"cds_end": null,
"cds_length": 4557,
"cdna_start": 4183,
"cdna_end": null,
"cdna_length": 4712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4108G>A",
"hgvs_p": "p.Gly1370Ser",
"transcript": "NM_173636.5",
"protein_id": "NP_775907.4",
"transcript_support_level": null,
"aa_start": 1370,
"aa_end": null,
"aa_length": 1518,
"cds_start": 4108,
"cds_end": null,
"cds_length": 4557,
"cdna_start": 4183,
"cdna_end": null,
"cdna_length": 4712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4108G>A",
"hgvs_p": "p.Gly1370Ser",
"transcript": "ENST00000270301.12",
"protein_id": "ENSP00000270301.6",
"transcript_support_level": 5,
"aa_start": 1370,
"aa_end": null,
"aa_length": 1518,
"cds_start": 4108,
"cds_end": null,
"cds_length": 4557,
"cdna_start": 4108,
"cdna_end": null,
"cdna_length": 4634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4108G>A",
"hgvs_p": "p.Gly1370Ser",
"transcript": "ENST00000679682.1",
"protein_id": "ENSP00000506226.1",
"transcript_support_level": null,
"aa_start": 1370,
"aa_end": null,
"aa_length": 1518,
"cds_start": 4108,
"cds_end": null,
"cds_length": 4557,
"cdna_start": 4183,
"cdna_end": null,
"cdna_length": 4702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3874G>A",
"hgvs_p": "p.Gly1292Ser",
"transcript": "NM_001411146.1",
"protein_id": "NP_001398075.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1440,
"cds_start": 3874,
"cds_end": null,
"cds_length": 4323,
"cdna_start": 3949,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3874G>A",
"hgvs_p": "p.Gly1292Ser",
"transcript": "ENST00000680564.1",
"protein_id": "ENSP00000505582.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1440,
"cds_start": 3874,
"cds_end": null,
"cds_length": 4323,
"cdna_start": 3949,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4108G>A",
"hgvs_p": "p.Gly1370Ser",
"transcript": "ENST00000680403.1",
"protein_id": "ENSP00000505677.1",
"transcript_support_level": null,
"aa_start": 1370,
"aa_end": null,
"aa_length": 1434,
"cds_start": 4108,
"cds_end": null,
"cds_length": 4305,
"cdna_start": 4183,
"cdna_end": null,
"cdna_length": 4627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3772G>A",
"hgvs_p": "p.Gly1258Ser",
"transcript": "NM_001411147.1",
"protein_id": "NP_001398076.1",
"transcript_support_level": null,
"aa_start": 1258,
"aa_end": null,
"aa_length": 1406,
"cds_start": 3772,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 3847,
"cdna_end": null,
"cdna_length": 4376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3772G>A",
"hgvs_p": "p.Gly1258Ser",
"transcript": "ENST00000679757.1",
"protein_id": "ENSP00000505158.1",
"transcript_support_level": null,
"aa_start": 1258,
"aa_end": null,
"aa_length": 1406,
"cds_start": 3772,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 3814,
"cdna_end": null,
"cdna_length": 4339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Gly242Ser",
"transcript": "ENST00000680211.1",
"protein_id": "ENSP00000506102.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 390,
"cds_start": 724,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1537,
"cdna_end": null,
"cdna_length": 2066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4123G>A",
"hgvs_p": "p.Gly1375Ser",
"transcript": "XM_017026665.2",
"protein_id": "XP_016882154.1",
"transcript_support_level": null,
"aa_start": 1375,
"aa_end": null,
"aa_length": 1523,
"cds_start": 4123,
"cds_end": null,
"cds_length": 4572,
"cdna_start": 4198,
"cdna_end": null,
"cdna_length": 4709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4093G>A",
"hgvs_p": "p.Gly1365Ser",
"transcript": "XM_047438657.1",
"protein_id": "XP_047294613.1",
"transcript_support_level": null,
"aa_start": 1365,
"aa_end": null,
"aa_length": 1513,
"cds_start": 4093,
"cds_end": null,
"cds_length": 4542,
"cdna_start": 4168,
"cdna_end": null,
"cdna_length": 4697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4012G>A",
"hgvs_p": "p.Gly1338Ser",
"transcript": "XM_005258809.3",
"protein_id": "XP_005258866.1",
"transcript_support_level": null,
"aa_start": 1338,
"aa_end": null,
"aa_length": 1486,
"cds_start": 4012,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 4087,
"cdna_end": null,
"cdna_length": 4616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3997G>A",
"hgvs_p": "p.Gly1333Ser",
"transcript": "XM_047438658.1",
"protein_id": "XP_047294614.1",
"transcript_support_level": null,
"aa_start": 1333,
"aa_end": null,
"aa_length": 1481,
"cds_start": 3997,
"cds_end": null,
"cds_length": 4446,
"cdna_start": 4072,
"cdna_end": null,
"cdna_length": 4601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3997G>A",
"hgvs_p": "p.Gly1333Ser",
"transcript": "XM_047438659.1",
"protein_id": "XP_047294615.1",
"transcript_support_level": null,
"aa_start": 1333,
"aa_end": null,
"aa_length": 1481,
"cds_start": 3997,
"cds_end": null,
"cds_length": 4446,
"cdna_start": 4072,
"cdna_end": null,
"cdna_length": 4601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3982G>A",
"hgvs_p": "p.Gly1328Ser",
"transcript": "XM_047438660.1",
"protein_id": "XP_047294616.1",
"transcript_support_level": null,
"aa_start": 1328,
"aa_end": null,
"aa_length": 1476,
"cds_start": 3982,
"cds_end": null,
"cds_length": 4431,
"cdna_start": 4057,
"cdna_end": null,
"cdna_length": 4586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3859G>A",
"hgvs_p": "p.Gly1287Ser",
"transcript": "XM_047438661.1",
"protein_id": "XP_047294617.1",
"transcript_support_level": null,
"aa_start": 1287,
"aa_end": null,
"aa_length": 1435,
"cds_start": 3859,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 3934,
"cdna_end": null,
"cdna_length": 4463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3757G>A",
"hgvs_p": "p.Gly1253Ser",
"transcript": "XM_047438662.1",
"protein_id": "XP_047294618.1",
"transcript_support_level": null,
"aa_start": 1253,
"aa_end": null,
"aa_length": 1401,
"cds_start": 3757,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 3832,
"cdna_end": null,
"cdna_length": 4361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3661G>A",
"hgvs_p": "p.Gly1221Ser",
"transcript": "XM_047438663.1",
"protein_id": "XP_047294619.1",
"transcript_support_level": null,
"aa_start": 1221,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3661,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 3736,
"cdna_end": null,
"cdna_length": 4265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3646G>A",
"hgvs_p": "p.Gly1216Ser",
"transcript": "XM_047438664.1",
"protein_id": "XP_047294620.1",
"transcript_support_level": null,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1364,
"cds_start": 3646,
"cds_end": null,
"cds_length": 4095,
"cdna_start": 3721,
"cdna_end": null,
"cdna_length": 4250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3523G>A",
"hgvs_p": "p.Gly1175Ser",
"transcript": "XM_047438665.1",
"protein_id": "XP_047294621.1",
"transcript_support_level": null,
"aa_start": 1175,
"aa_end": null,
"aa_length": 1323,
"cds_start": 3523,
"cds_end": null,
"cds_length": 3972,
"cdna_start": 3598,
"cdna_end": null,
"cdna_length": 4127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3115G>A",
"hgvs_p": "p.Gly1039Ser",
"transcript": "XM_011526840.3",
"protein_id": "XP_011525142.1",
"transcript_support_level": null,
"aa_start": 1039,
"aa_end": null,
"aa_length": 1187,
"cds_start": 3115,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 3209,
"cdna_end": null,
"cdna_length": 3738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3004G>A",
"hgvs_p": "p.Gly1002Ser",
"transcript": "XM_047438666.1",
"protein_id": "XP_047294622.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3004,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 3098,
"cdna_end": null,
"cdna_length": 3627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.2701G>A",
"hgvs_p": "p.Gly901Ser",
"transcript": "XM_011526841.3",
"protein_id": "XP_011525143.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2701,
"cds_end": null,
"cds_length": 3150,
"cdna_start": 2831,
"cdna_end": null,
"cdna_length": 3360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.2554G>A",
"hgvs_p": "p.Gly852Ser",
"transcript": "XM_011526842.2",
"protein_id": "XP_011525144.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 1000,
"cds_start": 2554,
"cds_end": null,
"cds_length": 3003,
"cdna_start": 2662,
"cdna_end": null,
"cdna_length": 3191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.1870G>A",
"hgvs_p": "p.Gly624Ser",
"transcript": "XM_011526843.2",
"protein_id": "XP_011525145.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 772,
"cds_start": 1870,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 1989,
"cdna_end": null,
"cdna_length": 2518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.1870G>A",
"hgvs_p": "p.Gly624Ser",
"transcript": "XM_011526844.3",
"protein_id": "XP_011525146.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 772,
"cds_start": 1870,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 1985,
"cdna_end": null,
"cdna_length": 2514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.*1095G>A",
"hgvs_p": null,
"transcript": "ENST00000679357.1",
"protein_id": "ENSP00000506376.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.886G>A",
"hgvs_p": null,
"transcript": "ENST00000679598.1",
"protein_id": "ENSP00000504936.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.*3505G>A",
"hgvs_p": null,
"transcript": "ENST00000679858.1",
"protein_id": "ENSP00000505655.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.1626G>A",
"hgvs_p": null,
"transcript": "ENST00000680280.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.2772G>A",
"hgvs_p": null,
"transcript": "ENST00000680349.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.*2503G>A",
"hgvs_p": null,
"transcript": "ENST00000680590.1",
"protein_id": "ENSP00000505350.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.*638G>A",
"hgvs_p": null,
"transcript": "ENST00000680597.1",
"protein_id": "ENSP00000505037.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.*863G>A",
"hgvs_p": null,
"transcript": "ENST00000680739.1",
"protein_id": "ENSP00000505170.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.2624G>A",
"hgvs_p": null,
"transcript": "ENST00000680773.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.*3426G>A",
"hgvs_p": null,
"transcript": "ENST00000680806.1",
"protein_id": "ENSP00000506418.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.2055G>A",
"hgvs_p": null,
"transcript": "ENST00000680997.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.1968G>A",
"hgvs_p": null,
"transcript": "ENST00000681608.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.*1455G>A",
"hgvs_p": null,
"transcript": "ENST00000681625.1",
"protein_id": "ENSP00000505555.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.1638G>A",
"hgvs_p": null,
"transcript": "ENST00000681648.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.*1095G>A",
"hgvs_p": null,
"transcript": "ENST00000679357.1",
"protein_id": "ENSP00000506376.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.*3505G>A",
"hgvs_p": null,
"transcript": "ENST00000679858.1",
"protein_id": "ENSP00000505655.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.*2503G>A",
"hgvs_p": null,
"transcript": "ENST00000680590.1",
"protein_id": "ENSP00000505350.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.*638G>A",
"hgvs_p": null,
"transcript": "ENST00000680597.1",
"protein_id": "ENSP00000505037.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.*863G>A",
"hgvs_p": null,
"transcript": "ENST00000680739.1",
"protein_id": "ENSP00000505170.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.*3426G>A",
"hgvs_p": null,
"transcript": "ENST00000680806.1",
"protein_id": "ENSP00000506418.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.*1455G>A",
"hgvs_p": null,
"transcript": "ENST00000681625.1",
"protein_id": "ENSP00000505555.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"dbsnp": "rs17851503",
"frequency_reference_population": 0.043495994,
"hom_count_reference_population": 1760,
"allele_count_reference_population": 69530,
"gnomad_exomes_af": 0.0443856,
"gnomad_genomes_af": 0.0350488,
"gnomad_exomes_ac": 64192,
"gnomad_genomes_ac": 5338,
"gnomad_exomes_homalt": 1620,
"gnomad_genomes_homalt": 140,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.001628875732421875,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.017,
"revel_prediction": "Benign",
"alphamissense_score": 0.0652,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.03,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000401500.7",
"gene_symbol": "WDR62",
"hgnc_id": 24502,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4123G>A",
"hgvs_p": "p.Gly1375Ser"
}
],
"clinvar_disease": " autosomal recessive, primary, with or without cortical malformations,Microcephaly 2,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:8",
"phenotype_combined": "not specified|Microcephaly 2, primary, autosomal recessive, with or without cortical malformations|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}