← 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: 10-35035279-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=35035279&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 35035279,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001198778.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Val299Ile",
"transcript": "NM_003591.4",
"protein_id": "NP_003582.2",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 745,
"cds_start": 895,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374749.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003591.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Val299Ile",
"transcript": "ENST00000374749.8",
"protein_id": "ENSP00000363881.3",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 745,
"cds_start": 895,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003591.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374749.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Val299Ile",
"transcript": "ENST00000374751.7",
"protein_id": "ENSP00000363883.3",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 745,
"cds_start": 895,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374751.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Val321Ile",
"transcript": "ENST00000970364.1",
"protein_id": "ENSP00000640423.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 767,
"cds_start": 961,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970364.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Val318Ile",
"transcript": "NM_001198778.2",
"protein_id": "NP_001185707.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 764,
"cds_start": 952,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198778.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Val318Ile",
"transcript": "ENST00000421317.5",
"protein_id": "ENSP00000414095.2",
"transcript_support_level": 2,
"aa_start": 318,
"aa_end": null,
"aa_length": 764,
"cds_start": 952,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421317.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Val312Ile",
"transcript": "NM_001198779.1",
"protein_id": "NP_001185708.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 758,
"cds_start": 934,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198779.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Val312Ile",
"transcript": "ENST00000537177.6",
"protein_id": "ENSP00000444856.2",
"transcript_support_level": 5,
"aa_start": 312,
"aa_end": null,
"aa_length": 758,
"cds_start": 934,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537177.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Val312Ile",
"transcript": "ENST00000688571.1",
"protein_id": "ENSP00000509574.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 758,
"cds_start": 934,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688571.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Val299Ile",
"transcript": "ENST00000687524.1",
"protein_id": "ENSP00000510171.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 753,
"cds_start": 895,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687524.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.913G>A",
"hgvs_p": "p.Val305Ile",
"transcript": "ENST00000970358.1",
"protein_id": "ENSP00000640417.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 751,
"cds_start": 913,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970358.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.913G>A",
"hgvs_p": "p.Val305Ile",
"transcript": "ENST00000970362.1",
"protein_id": "ENSP00000640421.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 751,
"cds_start": 913,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970362.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Val299Ile",
"transcript": "NM_001198777.2",
"protein_id": "NP_001185706.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 745,
"cds_start": 895,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198777.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Val299Ile",
"transcript": "ENST00000374748.5",
"protein_id": "ENSP00000363880.1",
"transcript_support_level": 5,
"aa_start": 299,
"aa_end": null,
"aa_length": 745,
"cds_start": 895,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374748.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Val299Ile",
"transcript": "ENST00000673636.2",
"protein_id": "ENSP00000501215.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 745,
"cds_start": 895,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673636.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Val299Ile",
"transcript": "ENST00000690393.1",
"protein_id": "ENSP00000510691.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 745,
"cds_start": 895,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690393.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Val299Ile",
"transcript": "ENST00000691974.1",
"protein_id": "ENSP00000508908.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 745,
"cds_start": 895,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691974.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Val299Ile",
"transcript": "ENST00000859697.1",
"protein_id": "ENSP00000529756.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 745,
"cds_start": 895,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859697.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Val299Ile",
"transcript": "ENST00000859699.1",
"protein_id": "ENSP00000529758.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 745,
"cds_start": 895,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859699.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Val299Ile",
"transcript": "ENST00000970361.1",
"protein_id": "ENSP00000640420.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 745,
"cds_start": 895,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970361.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Val299Ile",
"transcript": "ENST00000970363.1",
"protein_id": "ENSP00000640422.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 745,
"cds_start": 895,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970363.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Val299Ile",
"transcript": "ENST00000691263.1",
"protein_id": "ENSP00000510240.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 742,
"cds_start": 895,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691263.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.886G>A",
"hgvs_p": "p.Val296Ile",
"transcript": "ENST00000859694.1",
"protein_id": "ENSP00000529753.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 742,
"cds_start": 886,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859694.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.886G>A",
"hgvs_p": "p.Val296Ile",
"transcript": "ENST00000970360.1",
"protein_id": "ENSP00000640419.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 742,
"cds_start": 886,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970360.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Val299Ile",
"transcript": "ENST00000691201.1",
"protein_id": "ENSP00000509778.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 716,
"cds_start": 895,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691201.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Val299Ile",
"transcript": "ENST00000690092.1",
"protein_id": "ENSP00000508675.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 711,
"cds_start": 895,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690092.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Val299Ile",
"transcript": "ENST00000626172.3",
"protein_id": "ENSP00000485986.1",
"transcript_support_level": 5,
"aa_start": 299,
"aa_end": null,
"aa_length": 706,
"cds_start": 895,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626172.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Val299Ile",
"transcript": "ENST00000859693.1",
"protein_id": "ENSP00000529752.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 706,
"cds_start": 895,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859693.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Val299Ile",
"transcript": "ENST00000859695.1",
"protein_id": "ENSP00000529754.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 706,
"cds_start": 895,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859695.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Val299Ile",
"transcript": "ENST00000859698.1",
"protein_id": "ENSP00000529757.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 706,
"cds_start": 895,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859698.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Val299Ile",
"transcript": "ENST00000374746.6",
"protein_id": "ENSP00000363878.2",
"transcript_support_level": 5,
"aa_start": 299,
"aa_end": null,
"aa_length": 694,
"cds_start": 895,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374746.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Val236Ile",
"transcript": "NM_001324375.2",
"protein_id": "NP_001311304.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 682,
"cds_start": 706,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324375.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Val236Ile",
"transcript": "ENST00000690123.1",
"protein_id": "ENSP00000508924.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 682,
"cds_start": 706,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690123.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Val299Ile",
"transcript": "ENST00000859696.1",
"protein_id": "ENSP00000529755.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 673,
"cds_start": 895,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859696.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Val299Ile",
"transcript": "ENST00000970359.1",
"protein_id": "ENSP00000640418.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 672,
"cds_start": 895,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970359.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.502G>A",
"hgvs_p": "p.Val168Ile",
"transcript": "NM_001324376.2",
"protein_id": "NP_001311305.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 614,
"cds_start": 502,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324376.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Val299Ile",
"transcript": "ENST00000686302.1",
"protein_id": "ENSP00000510342.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 472,
"cds_start": 895,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686302.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Val362Ile",
"transcript": "XM_011519743.1",
"protein_id": "XP_011518045.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 808,
"cds_start": 1084,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519743.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Val362Ile",
"transcript": "XM_011519744.1",
"protein_id": "XP_011518046.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 808,
"cds_start": 1084,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519744.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Val362Ile",
"transcript": "XM_011519745.2",
"protein_id": "XP_011518047.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 808,
"cds_start": 1084,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519745.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Val362Ile",
"transcript": "XM_047425852.1",
"protein_id": "XP_047281808.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 808,
"cds_start": 1084,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425852.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Val299Ile",
"transcript": "XM_011519747.2",
"protein_id": "XP_011518049.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 745,
"cds_start": 895,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519747.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*578G>A",
"hgvs_p": null,
"transcript": "ENST00000374754.9",
"protein_id": "ENSP00000363886.4",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000374754.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.732G>A",
"hgvs_p": null,
"transcript": "ENST00000684965.1",
"protein_id": "ENSP00000509100.1",
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000684965.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*554G>A",
"hgvs_p": null,
"transcript": "ENST00000685681.1",
"protein_id": "ENSP00000508572.1",
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000685681.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*181G>A",
"hgvs_p": null,
"transcript": "ENST00000687194.1",
"protein_id": "ENSP00000509491.1",
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000687194.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.1091G>A",
"hgvs_p": null,
"transcript": "ENST00000687282.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000687282.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.413G>A",
"hgvs_p": null,
"transcript": "ENST00000688044.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000688044.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.2987G>A",
"hgvs_p": null,
"transcript": "ENST00000688252.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000688252.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.1099G>A",
"hgvs_p": null,
"transcript": "ENST00000688390.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000688390.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*181G>A",
"hgvs_p": null,
"transcript": "ENST00000688541.1",
"protein_id": "ENSP00000509171.1",
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000688541.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.466G>A",
"hgvs_p": null,
"transcript": "ENST00000689330.1",
"protein_id": "ENSP00000509501.1",
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000689330.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*165G>A",
"hgvs_p": null,
"transcript": "ENST00000691272.1",
"protein_id": "ENSP00000508531.1",
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000691272.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*386G>A",
"hgvs_p": null,
"transcript": "ENST00000691457.1",
"protein_id": "ENSP00000509618.1",
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000691457.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*165G>A",
"hgvs_p": null,
"transcript": "ENST00000691858.1",
"protein_id": "ENSP00000509932.1",
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000691858.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.895G>A",
"hgvs_p": null,
"transcript": "ENST00000691962.1",
"protein_id": "ENSP00000508699.1",
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000691962.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.1071G>A",
"hgvs_p": null,
"transcript": "ENST00000692866.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000692866.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*181G>A",
"hgvs_p": null,
"transcript": "ENST00000693739.1",
"protein_id": "ENSP00000508657.1",
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000693739.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*578G>A",
"hgvs_p": null,
"transcript": "ENST00000374754.9",
"protein_id": "ENSP00000363886.4",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000374754.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*554G>A",
"hgvs_p": null,
"transcript": "ENST00000685681.1",
"protein_id": "ENSP00000508572.1",
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000685681.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*181G>A",
"hgvs_p": null,
"transcript": "ENST00000687194.1",
"protein_id": "ENSP00000509491.1",
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000687194.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*181G>A",
"hgvs_p": null,
"transcript": "ENST00000688541.1",
"protein_id": "ENSP00000509171.1",
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000688541.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*165G>A",
"hgvs_p": null,
"transcript": "ENST00000691272.1",
"protein_id": "ENSP00000508531.1",
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000691272.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*386G>A",
"hgvs_p": null,
"transcript": "ENST00000691457.1",
"protein_id": "ENSP00000509618.1",
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000691457.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*165G>A",
"hgvs_p": null,
"transcript": "ENST00000691858.1",
"protein_id": "ENSP00000509932.1",
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000691858.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"hgvs_c": "n.*181G>A",
"hgvs_p": null,
"transcript": "ENST00000693739.1",
"protein_id": "ENSP00000508657.1",
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000693739.1"
}
],
"gene_symbol": "CUL2",
"gene_hgnc_id": 2552,
"dbsnp": "rs369928960",
"frequency_reference_population": 0.000060721042,
"hom_count_reference_population": 2,
"allele_count_reference_population": 98,
"gnomad_exomes_af": 0.0000608877,
"gnomad_genomes_af": 0.0000591211,
"gnomad_exomes_ac": 89,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.053832024335861206,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.098,
"revel_prediction": "Benign",
"alphamissense_score": 0.0752,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.106,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001198778.2",
"gene_symbol": "CUL2",
"hgnc_id": 2552,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Val318Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}