← 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: 1-226985332-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=226985332&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 226985332,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020247.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "NM_020247.5",
"protein_id": "NP_064632.2",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366777.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020247.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000366777.4",
"protein_id": "ENSP00000355739.3",
"transcript_support_level": 1,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020247.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366777.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1495G>A",
"hgvs_p": "p.Glu499Lys",
"transcript": "ENST00000366778.5",
"protein_id": "ENSP00000355740.1",
"transcript_support_level": 1,
"aa_start": 499,
"aa_end": null,
"aa_length": 595,
"cds_start": 1495,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366778.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288674",
"gene_hgnc_id": null,
"hgvs_c": "n.*6378G>A",
"hgvs_p": null,
"transcript": "ENST00000366779.6",
"protein_id": "ENSP00000355741.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000366779.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "n.838G>A",
"hgvs_p": null,
"transcript": "ENST00000479852.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "pseudogene",
"feature": "ENST00000479852.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "n.1041G>A",
"hgvs_p": null,
"transcript": "ENST00000485462.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "pseudogene",
"feature": "ENST00000485462.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288674",
"gene_hgnc_id": null,
"hgvs_c": "n.*6378G>A",
"hgvs_p": null,
"transcript": "ENST00000366779.6",
"protein_id": "ENSP00000355741.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000366779.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1807G>A",
"hgvs_p": "p.Glu603Lys",
"transcript": "ENST00000950277.1",
"protein_id": "ENSP00000620336.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 699,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950277.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1789G>A",
"hgvs_p": "p.Glu597Lys",
"transcript": "ENST00000950276.1",
"protein_id": "ENSP00000620335.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 693,
"cds_start": 1789,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950276.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1663G>A",
"hgvs_p": "p.Glu555Lys",
"transcript": "ENST00000950279.1",
"protein_id": "ENSP00000620338.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 651,
"cds_start": 1663,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950279.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000873690.1",
"protein_id": "ENSP00000543749.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873690.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000873691.1",
"protein_id": "ENSP00000543750.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873691.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000873693.1",
"protein_id": "ENSP00000543752.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873693.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000873694.1",
"protein_id": "ENSP00000543753.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873694.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000873696.1",
"protein_id": "ENSP00000543755.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873696.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000873697.1",
"protein_id": "ENSP00000543756.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873697.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000873698.1",
"protein_id": "ENSP00000543757.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873698.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000873699.1",
"protein_id": "ENSP00000543758.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873699.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000873700.1",
"protein_id": "ENSP00000543759.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873700.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000873701.1",
"protein_id": "ENSP00000543760.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873701.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000873702.1",
"protein_id": "ENSP00000543761.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873702.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000873703.1",
"protein_id": "ENSP00000543762.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873703.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000873704.1",
"protein_id": "ENSP00000543763.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873704.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000873705.1",
"protein_id": "ENSP00000543764.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873705.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000873706.1",
"protein_id": "ENSP00000543765.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873706.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000873707.1",
"protein_id": "ENSP00000543766.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873707.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000873709.1",
"protein_id": "ENSP00000543768.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873709.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000873710.1",
"protein_id": "ENSP00000543769.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873710.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000873712.1",
"protein_id": "ENSP00000543771.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873712.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000873713.1",
"protein_id": "ENSP00000543772.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873713.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000873714.1",
"protein_id": "ENSP00000543773.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873714.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000873716.1",
"protein_id": "ENSP00000543775.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873716.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000873717.1",
"protein_id": "ENSP00000543776.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873717.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000873718.1",
"protein_id": "ENSP00000543777.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873718.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000873719.1",
"protein_id": "ENSP00000543778.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873719.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000873720.1",
"protein_id": "ENSP00000543779.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873720.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000873721.1",
"protein_id": "ENSP00000543780.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873721.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000912837.1",
"protein_id": "ENSP00000582896.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912837.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000912838.1",
"protein_id": "ENSP00000582897.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912838.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000912839.1",
"protein_id": "ENSP00000582898.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912839.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000950267.1",
"protein_id": "ENSP00000620326.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950267.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000950268.1",
"protein_id": "ENSP00000620327.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950268.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000950273.1",
"protein_id": "ENSP00000620332.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950273.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000950275.1",
"protein_id": "ENSP00000620334.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950275.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000950280.1",
"protein_id": "ENSP00000620339.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950280.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000950282.1",
"protein_id": "ENSP00000620341.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950282.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000950286.1",
"protein_id": "ENSP00000620345.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950286.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000950288.1",
"protein_id": "ENSP00000620347.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950288.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000950291.1",
"protein_id": "ENSP00000620350.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950291.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000950292.1",
"protein_id": "ENSP00000620351.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950292.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000950293.1",
"protein_id": "ENSP00000620352.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950293.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000950294.1",
"protein_id": "ENSP00000620353.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950294.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000950295.1",
"protein_id": "ENSP00000620354.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950295.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000950297.1",
"protein_id": "ENSP00000620356.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950297.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000950299.1",
"protein_id": "ENSP00000620358.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950299.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1645G>A",
"hgvs_p": "p.Glu549Lys",
"transcript": "ENST00000950271.1",
"protein_id": "ENSP00000620330.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 645,
"cds_start": 1645,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950271.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1645G>A",
"hgvs_p": "p.Glu549Lys",
"transcript": "ENST00000950272.1",
"protein_id": "ENSP00000620331.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 645,
"cds_start": 1645,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950272.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1615G>A",
"hgvs_p": "p.Glu539Lys",
"transcript": "ENST00000950274.1",
"protein_id": "ENSP00000620333.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 635,
"cds_start": 1615,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950274.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1600G>A",
"hgvs_p": "p.Glu534Lys",
"transcript": "ENST00000950270.1",
"protein_id": "ENSP00000620329.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 630,
"cds_start": 1600,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950270.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1585G>A",
"hgvs_p": "p.Glu529Lys",
"transcript": "ENST00000912836.1",
"protein_id": "ENSP00000582895.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 625,
"cds_start": 1585,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912836.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000873695.1",
"protein_id": "ENSP00000543754.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 619,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873695.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000950269.1",
"protein_id": "ENSP00000620328.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 619,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950269.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000950278.1",
"protein_id": "ENSP00000620337.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 619,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950278.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000950281.1",
"protein_id": "ENSP00000620340.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 619,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950281.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000950287.1",
"protein_id": "ENSP00000620346.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 619,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950287.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000950290.1",
"protein_id": "ENSP00000620349.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 619,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950290.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000950296.1",
"protein_id": "ENSP00000620355.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 619,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950296.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1510G>A",
"hgvs_p": "p.Glu504Lys",
"transcript": "ENST00000873692.1",
"protein_id": "ENSP00000543751.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 600,
"cds_start": 1510,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873692.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1510G>A",
"hgvs_p": "p.Glu504Lys",
"transcript": "ENST00000873715.1",
"protein_id": "ENSP00000543774.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 600,
"cds_start": 1510,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873715.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1510G>A",
"hgvs_p": "p.Glu504Lys",
"transcript": "ENST00000950283.1",
"protein_id": "ENSP00000620342.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 600,
"cds_start": 1510,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950283.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1510G>A",
"hgvs_p": "p.Glu504Lys",
"transcript": "ENST00000950284.1",
"protein_id": "ENSP00000620343.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 600,
"cds_start": 1510,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950284.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1510G>A",
"hgvs_p": "p.Glu504Lys",
"transcript": "ENST00000950298.1",
"protein_id": "ENSP00000620357.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 600,
"cds_start": 1510,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950298.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1510G>A",
"hgvs_p": "p.Glu504Lys",
"transcript": "ENST00000950285.1",
"protein_id": "ENSP00000620344.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 572,
"cds_start": 1510,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950285.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1312G>A",
"hgvs_p": "p.Glu438Lys",
"transcript": "ENST00000950300.1",
"protein_id": "ENSP00000620359.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 534,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950300.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Glu403Lys",
"transcript": "ENST00000873711.1",
"protein_id": "ENSP00000543770.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 499,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873711.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1192G>A",
"hgvs_p": "p.Glu398Lys",
"transcript": "ENST00000950289.1",
"protein_id": "ENSP00000620348.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 494,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950289.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "XM_005273201.2",
"protein_id": "XP_005273258.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273201.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "XM_011544238.2",
"protein_id": "XP_011542540.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544238.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "XM_011544239.3",
"protein_id": "XP_011542541.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544239.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "XM_024448517.2",
"protein_id": "XP_024304285.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448517.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "XM_024448518.2",
"protein_id": "XP_024304286.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448518.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "XM_047425732.1",
"protein_id": "XP_047281688.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425732.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "XM_047425739.1",
"protein_id": "XP_047281695.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425739.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "XM_047425745.1",
"protein_id": "XP_047281701.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425745.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "XM_047425749.1",
"protein_id": "XP_047281705.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 647,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425749.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys",
"transcript": "ENST00000873708.1",
"protein_id": "ENSP00000543767.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 645,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873708.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"hgvs_c": "n.2513G>A",
"hgvs_p": null,
"transcript": "ENST00000478406.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000478406.5"
}
],
"gene_symbol": "COQ8A",
"gene_hgnc_id": 16812,
"dbsnp": "rs119468004",
"frequency_reference_population": 0.000029750063,
"hom_count_reference_population": 0,
"allele_count_reference_population": 48,
"gnomad_exomes_af": 0.0000307958,
"gnomad_genomes_af": 0.0000197106,
"gnomad_exomes_ac": 45,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8880376219749451,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.709,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9613,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.994,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.06,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PM5,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PS3",
"PM2",
"PM5",
"PP3_Moderate",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_020247.5",
"gene_symbol": "COQ8A",
"hgnc_id": 16812,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Glu551Lys"
},
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PS3",
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000366779.6",
"gene_symbol": "ENSG00000288674",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*6378G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Abnormality of the nervous system,Autosomal recessive ataxia due to ubiquinone deficiency,See cases,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:5 US:1 O:1",
"phenotype_combined": "Autosomal recessive ataxia due to ubiquinone deficiency|Abnormality of the nervous system|not provided|See cases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}