← 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: 6-3015630-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=3015630&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 3015630,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000904.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "NM_000904.6",
"protein_id": "NP_000895.2",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380455.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000904.6"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000380455.11",
"protein_id": "ENSP00000369822.4",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000904.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380455.11"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.449C>T",
"hgvs_p": "p.Ser150Phe",
"transcript": "ENST00000952452.1",
"protein_id": "ENSP00000622511.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 246,
"cds_start": 449,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952452.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "NM_001290221.2",
"protein_id": "NP_001277150.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290221.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "NM_001318940.2",
"protein_id": "NP_001305869.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318940.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000338130.7",
"protein_id": "ENSP00000337773.2",
"transcript_support_level": 2,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338130.7"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000380430.6",
"protein_id": "ENSP00000369795.1",
"transcript_support_level": 5,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380430.6"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000892207.1",
"protein_id": "ENSP00000562266.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892207.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000892208.1",
"protein_id": "ENSP00000562267.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892208.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000892209.1",
"protein_id": "ENSP00000562268.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892209.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000892210.1",
"protein_id": "ENSP00000562269.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892210.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000892212.1",
"protein_id": "ENSP00000562271.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892212.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000892214.1",
"protein_id": "ENSP00000562273.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892214.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000892215.1",
"protein_id": "ENSP00000562274.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892215.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000892216.1",
"protein_id": "ENSP00000562275.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892216.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000892217.1",
"protein_id": "ENSP00000562276.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892217.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000892219.1",
"protein_id": "ENSP00000562278.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892219.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000892220.1",
"protein_id": "ENSP00000562279.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892220.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000892222.1",
"protein_id": "ENSP00000562281.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892222.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000892223.1",
"protein_id": "ENSP00000562282.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892223.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000892224.1",
"protein_id": "ENSP00000562283.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892224.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000892225.1",
"protein_id": "ENSP00000562284.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892225.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000892227.1",
"protein_id": "ENSP00000562286.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892227.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000892228.1",
"protein_id": "ENSP00000562287.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892228.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000892231.1",
"protein_id": "ENSP00000562290.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892231.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000892232.1",
"protein_id": "ENSP00000562291.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892232.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000892234.1",
"protein_id": "ENSP00000562293.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892234.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000892235.1",
"protein_id": "ENSP00000562294.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892235.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000892239.1",
"protein_id": "ENSP00000562298.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892239.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000892240.1",
"protein_id": "ENSP00000562299.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892240.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000929208.1",
"protein_id": "ENSP00000599267.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929208.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000929212.1",
"protein_id": "ENSP00000599271.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929212.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000929213.1",
"protein_id": "ENSP00000599272.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929213.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000929214.1",
"protein_id": "ENSP00000599273.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929214.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000929216.1",
"protein_id": "ENSP00000599275.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929216.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000929217.1",
"protein_id": "ENSP00000599276.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929217.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000929227.1",
"protein_id": "ENSP00000599286.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929227.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000929228.1",
"protein_id": "ENSP00000599287.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929228.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000952437.1",
"protein_id": "ENSP00000622496.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952437.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000952438.1",
"protein_id": "ENSP00000622497.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952438.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000952439.1",
"protein_id": "ENSP00000622498.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952439.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000952440.1",
"protein_id": "ENSP00000622499.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952440.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000952441.1",
"protein_id": "ENSP00000622500.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952441.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000952442.1",
"protein_id": "ENSP00000622501.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952442.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000952443.1",
"protein_id": "ENSP00000622502.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952443.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000952445.1",
"protein_id": "ENSP00000622504.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952445.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000952446.1",
"protein_id": "ENSP00000622505.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952446.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000952447.1",
"protein_id": "ENSP00000622506.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952447.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000952448.1",
"protein_id": "ENSP00000622507.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952448.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000952449.1",
"protein_id": "ENSP00000622508.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952449.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000952451.1",
"protein_id": "ENSP00000622510.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952451.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000952453.1",
"protein_id": "ENSP00000622512.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952453.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000952456.1",
"protein_id": "ENSP00000622515.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952456.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000952457.1",
"protein_id": "ENSP00000622516.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 231,
"cds_start": 404,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952457.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.395C>T",
"hgvs_p": "p.Ser132Phe",
"transcript": "ENST00000929209.1",
"protein_id": "ENSP00000599268.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 228,
"cds_start": 395,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929209.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000929215.1",
"protein_id": "ENSP00000599274.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 216,
"cds_start": 404,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929215.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ser80Phe",
"transcript": "ENST00000892211.1",
"protein_id": "ENSP00000562270.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 176,
"cds_start": 239,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892211.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ser80Phe",
"transcript": "ENST00000929211.1",
"protein_id": "ENSP00000599270.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 176,
"cds_start": 239,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929211.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ser80Phe",
"transcript": "ENST00000929221.1",
"protein_id": "ENSP00000599280.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 176,
"cds_start": 239,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929221.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ser80Phe",
"transcript": "ENST00000929222.1",
"protein_id": "ENSP00000599281.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 176,
"cds_start": 239,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929222.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ser80Phe",
"transcript": "ENST00000929225.1",
"protein_id": "ENSP00000599284.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 176,
"cds_start": 239,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929225.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ser80Phe",
"transcript": "ENST00000929226.1",
"protein_id": "ENSP00000599285.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 176,
"cds_start": 239,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929226.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000380472.7",
"protein_id": "ENSP00000369839.3",
"transcript_support_level": 5,
"aa_start": 135,
"aa_end": null,
"aa_length": 138,
"cds_start": 404,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380472.7"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe",
"transcript": "ENST00000397717.7",
"protein_id": "ENSP00000380829.2",
"transcript_support_level": 5,
"aa_start": 135,
"aa_end": null,
"aa_length": 138,
"cds_start": 404,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397717.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.304-1254C>T",
"hgvs_p": null,
"transcript": "NM_001290222.2",
"protein_id": "NP_001277151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290222.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.304-1254C>T",
"hgvs_p": null,
"transcript": "ENST00000380441.5",
"protein_id": "ENSP00000369806.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380441.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.304-1254C>T",
"hgvs_p": null,
"transcript": "ENST00000380454.8",
"protein_id": "ENSP00000369821.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380454.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.304-1254C>T",
"hgvs_p": null,
"transcript": "ENST00000892213.1",
"protein_id": "ENSP00000562272.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892213.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.304-1254C>T",
"hgvs_p": null,
"transcript": "ENST00000892221.1",
"protein_id": "ENSP00000562280.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892221.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.304-1254C>T",
"hgvs_p": null,
"transcript": "ENST00000892226.1",
"protein_id": "ENSP00000562285.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892226.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.304-1254C>T",
"hgvs_p": null,
"transcript": "ENST00000892229.1",
"protein_id": "ENSP00000562288.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892229.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.304-1254C>T",
"hgvs_p": null,
"transcript": "ENST00000892230.1",
"protein_id": "ENSP00000562289.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892230.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.304-1254C>T",
"hgvs_p": null,
"transcript": "ENST00000892233.1",
"protein_id": "ENSP00000562292.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892233.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.304-1254C>T",
"hgvs_p": null,
"transcript": "ENST00000892236.1",
"protein_id": "ENSP00000562295.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892236.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.304-1254C>T",
"hgvs_p": null,
"transcript": "ENST00000892238.1",
"protein_id": "ENSP00000562297.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892238.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.304-1254C>T",
"hgvs_p": null,
"transcript": "ENST00000929205.1",
"protein_id": "ENSP00000599264.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929205.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.304-1254C>T",
"hgvs_p": null,
"transcript": "ENST00000929218.1",
"protein_id": "ENSP00000599277.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929218.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.304-1254C>T",
"hgvs_p": null,
"transcript": "ENST00000929224.1",
"protein_id": "ENSP00000599283.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929224.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.304-1254C>T",
"hgvs_p": null,
"transcript": "ENST00000929229.1",
"protein_id": "ENSP00000599288.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929229.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.304-1254C>T",
"hgvs_p": null,
"transcript": "ENST00000952444.1",
"protein_id": "ENSP00000622503.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952444.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.304-1254C>T",
"hgvs_p": null,
"transcript": "ENST00000952450.1",
"protein_id": "ENSP00000622509.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952450.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.304-1254C>T",
"hgvs_p": null,
"transcript": "ENST00000952454.1",
"protein_id": "ENSP00000622513.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952454.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.304-1254C>T",
"hgvs_p": null,
"transcript": "ENST00000952455.1",
"protein_id": "ENSP00000622514.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952455.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.295-1254C>T",
"hgvs_p": null,
"transcript": "ENST00000929219.1",
"protein_id": "ENSP00000599278.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 190,
"cds_start": null,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929219.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.303+2956C>T",
"hgvs_p": null,
"transcript": "ENST00000892218.1",
"protein_id": "ENSP00000562277.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": null,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892218.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.303+2956C>T",
"hgvs_p": null,
"transcript": "ENST00000892237.1",
"protein_id": "ENSP00000562296.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": null,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892237.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.303+2956C>T",
"hgvs_p": null,
"transcript": "ENST00000892241.1",
"protein_id": "ENSP00000562300.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": null,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892241.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.303+2956C>T",
"hgvs_p": null,
"transcript": "ENST00000929207.1",
"protein_id": "ENSP00000599266.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": null,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929207.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.303+2956C>T",
"hgvs_p": null,
"transcript": "ENST00000929220.1",
"protein_id": "ENSP00000599279.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": null,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929220.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.303+2956C>T",
"hgvs_p": null,
"transcript": "ENST00000929223.1",
"protein_id": "ENSP00000599282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": null,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929223.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.139-1254C>T",
"hgvs_p": null,
"transcript": "ENST00000929210.1",
"protein_id": "ENSP00000599269.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": null,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929210.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"hgvs_c": "c.138+2956C>T",
"hgvs_p": null,
"transcript": "ENST00000929206.1",
"protein_id": "ENSP00000599265.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 104,
"cds_start": null,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929206.1"
}
],
"gene_symbol": "NQO2",
"gene_hgnc_id": 7856,
"dbsnp": "rs768151735",
"frequency_reference_population": 0.0000043370615,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000410446,
"gnomad_genomes_af": 0.00000657151,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.27326393127441406,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.043,
"revel_prediction": "Benign",
"alphamissense_score": 0.2505,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.603,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000904.6",
"gene_symbol": "NQO2",
"hgnc_id": 7856,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ser135Phe"
}
],
"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
}