← 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: 5-131959565-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=131959565&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 131959565,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015256.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.2002A>G",
"hgvs_p": "p.Lys668Glu",
"transcript": "NM_001009185.3",
"protein_id": "NP_001009185.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 722,
"cds_start": 2002,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000651883.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001009185.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.2002A>G",
"hgvs_p": "p.Lys668Glu",
"transcript": "ENST00000651883.2",
"protein_id": "ENSP00000499063.2",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 722,
"cds_start": 2002,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001009185.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651883.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1972A>G",
"hgvs_p": "p.Lys658Glu",
"transcript": "ENST00000543479.5",
"protein_id": "ENSP00000442124.2",
"transcript_support_level": 1,
"aa_start": 658,
"aa_end": null,
"aa_length": 712,
"cds_start": 1972,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543479.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1960A>G",
"hgvs_p": "p.Lys654Glu",
"transcript": "ENST00000379246.5",
"protein_id": "ENSP00000368548.1",
"transcript_support_level": 1,
"aa_start": 654,
"aa_end": null,
"aa_length": 708,
"cds_start": 1960,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379246.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1897A>G",
"hgvs_p": "p.Lys633Glu",
"transcript": "ENST00000434099.6",
"protein_id": "ENSP00000397507.2",
"transcript_support_level": 1,
"aa_start": 633,
"aa_end": null,
"aa_length": 687,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434099.6"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1702A>G",
"hgvs_p": "p.Lys568Glu",
"transcript": "ENST00000379255.5",
"protein_id": "ENSP00000368557.1",
"transcript_support_level": 1,
"aa_start": 568,
"aa_end": null,
"aa_length": 622,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379255.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000281938",
"gene_hgnc_id": null,
"hgvs_c": "n.2002A>G",
"hgvs_p": null,
"transcript": "ENST00000652469.1",
"protein_id": "ENSP00000498837.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000652469.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.2002A>G",
"hgvs_p": "p.Lys668Glu",
"transcript": "NM_015256.4",
"protein_id": "NP_056071.2",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 722,
"cds_start": 2002,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015256.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.2002A>G",
"hgvs_p": "p.Lys668Glu",
"transcript": "ENST00000651356.1",
"protein_id": "ENSP00000498260.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 722,
"cds_start": 2002,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651356.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1996A>G",
"hgvs_p": "p.Lys666Glu",
"transcript": "NM_001405475.1",
"protein_id": "NP_001392404.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 720,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405475.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1996A>G",
"hgvs_p": "p.Lys666Glu",
"transcript": "ENST00000650697.1",
"protein_id": "ENSP00000498444.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 720,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650697.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1972A>G",
"hgvs_p": "p.Lys658Glu",
"transcript": "NM_001405476.1",
"protein_id": "NP_001392405.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 712,
"cds_start": 1972,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405476.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1966A>G",
"hgvs_p": "p.Lys656Glu",
"transcript": "NM_001405477.1",
"protein_id": "NP_001392406.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 710,
"cds_start": 1966,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405477.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1966A>G",
"hgvs_p": "p.Lys656Glu",
"transcript": "ENST00000296869.9",
"protein_id": "ENSP00000296869.5",
"transcript_support_level": 5,
"aa_start": 656,
"aa_end": null,
"aa_length": 710,
"cds_start": 1966,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296869.9"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1960A>G",
"hgvs_p": "p.Lys654Glu",
"transcript": "NM_001205250.1",
"protein_id": "NP_001192179.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 708,
"cds_start": 1960,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001205250.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1960A>G",
"hgvs_p": "p.Lys654Glu",
"transcript": "NM_001405478.1",
"protein_id": "NP_001392407.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 708,
"cds_start": 1960,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405478.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1948A>G",
"hgvs_p": "p.Lys650Glu",
"transcript": "ENST00000959336.1",
"protein_id": "ENSP00000629395.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 704,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959336.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1927A>G",
"hgvs_p": "p.Lys643Glu",
"transcript": "NM_001205248.2",
"protein_id": "NP_001192177.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 697,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001205248.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1927A>G",
"hgvs_p": "p.Lys643Glu",
"transcript": "NM_001405479.1",
"protein_id": "NP_001392408.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 697,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405479.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1927A>G",
"hgvs_p": "p.Lys643Glu",
"transcript": "NM_001405480.1",
"protein_id": "NP_001392409.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 697,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405480.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1927A>G",
"hgvs_p": "p.Lys643Glu",
"transcript": "NM_001405481.1",
"protein_id": "NP_001392410.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 697,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405481.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1927A>G",
"hgvs_p": "p.Lys643Glu",
"transcript": "NM_001405482.1",
"protein_id": "NP_001392411.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 697,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405482.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1927A>G",
"hgvs_p": "p.Lys643Glu",
"transcript": "NM_001405483.1",
"protein_id": "NP_001392412.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 697,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405483.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1927A>G",
"hgvs_p": "p.Lys643Glu",
"transcript": "NM_001405484.1",
"protein_id": "NP_001392413.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 697,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405484.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1927A>G",
"hgvs_p": "p.Lys643Glu",
"transcript": "ENST00000379240.5",
"protein_id": "ENSP00000368542.1",
"transcript_support_level": 5,
"aa_start": 643,
"aa_end": null,
"aa_length": 697,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379240.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1927A>G",
"hgvs_p": "p.Lys643Glu",
"transcript": "ENST00000379244.5",
"protein_id": "ENSP00000368546.1",
"transcript_support_level": 5,
"aa_start": 643,
"aa_end": null,
"aa_length": 697,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379244.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1924A>G",
"hgvs_p": "p.Lys642Glu",
"transcript": "ENST00000897429.1",
"protein_id": "ENSP00000567488.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 696,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897429.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1897A>G",
"hgvs_p": "p.Lys633Glu",
"transcript": "NM_001205247.2",
"protein_id": "NP_001192176.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 687,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001205247.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1897A>G",
"hgvs_p": "p.Lys633Glu",
"transcript": "NM_001405485.1",
"protein_id": "NP_001392414.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 687,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405485.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1867A>G",
"hgvs_p": "p.Lys623Glu",
"transcript": "ENST00000431707.5",
"protein_id": "ENSP00000413329.1",
"transcript_support_level": 5,
"aa_start": 623,
"aa_end": null,
"aa_length": 677,
"cds_start": 1867,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431707.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1843A>G",
"hgvs_p": "p.Lys615Glu",
"transcript": "NM_001405486.1",
"protein_id": "NP_001392415.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 669,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405486.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1843A>G",
"hgvs_p": "p.Lys615Glu",
"transcript": "ENST00000651250.1",
"protein_id": "ENSP00000498588.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 669,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651250.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1840A>G",
"hgvs_p": "p.Lys614Glu",
"transcript": "ENST00000923559.1",
"protein_id": "ENSP00000593618.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 668,
"cds_start": 1840,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923559.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1822A>G",
"hgvs_p": "p.Lys608Glu",
"transcript": "NM_001405487.1",
"protein_id": "NP_001392416.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 662,
"cds_start": 1822,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405487.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1822A>G",
"hgvs_p": "p.Lys608Glu",
"transcript": "NM_001405488.1",
"protein_id": "NP_001392417.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 662,
"cds_start": 1822,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405488.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1822A>G",
"hgvs_p": "p.Lys608Glu",
"transcript": "NM_001405489.1",
"protein_id": "NP_001392418.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 662,
"cds_start": 1822,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405489.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1822A>G",
"hgvs_p": "p.Lys608Glu",
"transcript": "ENST00000651427.1",
"protein_id": "ENSP00000498263.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 662,
"cds_start": 1822,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651427.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1702A>G",
"hgvs_p": "p.Lys568Glu",
"transcript": "NM_001205251.2",
"protein_id": "NP_001192180.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 622,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001205251.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1702A>G",
"hgvs_p": "p.Lys568Glu",
"transcript": "NM_001405490.1",
"protein_id": "NP_001392419.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 622,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405490.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1702A>G",
"hgvs_p": "p.Lys568Glu",
"transcript": "ENST00000357096.5",
"protein_id": "ENSP00000349608.1",
"transcript_support_level": 5,
"aa_start": 568,
"aa_end": null,
"aa_length": 622,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357096.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000281938",
"gene_hgnc_id": null,
"hgvs_c": "n.1927A>G",
"hgvs_p": null,
"transcript": "ENST00000413683.5",
"protein_id": "ENSP00000415140.1",
"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": "ENST00000413683.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "n.1569A>G",
"hgvs_p": null,
"transcript": "ENST00000493861.5",
"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": "retained_intron",
"feature": "ENST00000493861.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "n.*2273A>G",
"hgvs_p": null,
"transcript": "ENST00000650912.1",
"protein_id": "ENSP00000499071.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650912.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "n.*4015A>G",
"hgvs_p": null,
"transcript": "ENST00000651086.1",
"protein_id": "ENSP00000498727.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651086.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "n.4648A>G",
"hgvs_p": null,
"transcript": "ENST00000651127.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000651127.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "n.*2057A>G",
"hgvs_p": null,
"transcript": "ENST00000651269.1",
"protein_id": "ENSP00000498492.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651269.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "n.*671A>G",
"hgvs_p": null,
"transcript": "ENST00000651454.1",
"protein_id": "ENSP00000498377.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651454.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "n.2637A>G",
"hgvs_p": null,
"transcript": "ENST00000652375.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000652375.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "n.*1283A>G",
"hgvs_p": null,
"transcript": "ENST00000652424.1",
"protein_id": "ENSP00000498305.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000652424.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "n.*1075A>G",
"hgvs_p": null,
"transcript": "ENST00000652493.1",
"protein_id": "ENSP00000498458.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000652493.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "n.2358A>G",
"hgvs_p": null,
"transcript": "NR_175945.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_175945.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "n.2197A>G",
"hgvs_p": null,
"transcript": "NR_175946.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_175946.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "n.2387A>G",
"hgvs_p": null,
"transcript": "NR_175947.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_175947.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "n.*2273A>G",
"hgvs_p": null,
"transcript": "ENST00000650912.1",
"protein_id": "ENSP00000499071.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650912.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "n.*4015A>G",
"hgvs_p": null,
"transcript": "ENST00000651086.1",
"protein_id": "ENSP00000498727.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651086.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "n.*2057A>G",
"hgvs_p": null,
"transcript": "ENST00000651269.1",
"protein_id": "ENSP00000498492.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651269.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "n.*671A>G",
"hgvs_p": null,
"transcript": "ENST00000651454.1",
"protein_id": "ENSP00000498377.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651454.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "n.*1283A>G",
"hgvs_p": null,
"transcript": "ENST00000652424.1",
"protein_id": "ENSP00000498305.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000652424.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "n.*1075A>G",
"hgvs_p": null,
"transcript": "ENST00000652493.1",
"protein_id": "ENSP00000498458.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000652493.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000234758",
"gene_hgnc_id": null,
"hgvs_c": "n.118-40T>C",
"hgvs_p": null,
"transcript": "ENST00000446275.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000446275.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "n.*8A>G",
"hgvs_p": null,
"transcript": "ENST00000492156.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000492156.1"
}
],
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"dbsnp": "rs1331304064",
"frequency_reference_population": 0.0000095767355,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000957674,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.32048162817955017,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.227,
"revel_prediction": "Benign",
"alphamissense_score": 0.1867,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.276,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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_015256.4",
"gene_symbol": "ACSL6",
"hgnc_id": 16496,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2002A>G",
"hgvs_p": "p.Lys668Glu"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000652469.1",
"gene_symbol": "ENSG00000281938",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2002A>G",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000446275.1",
"gene_symbol": "ENSG00000234758",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.118-40T>C",
"hgvs_p": null
}
],
"clinvar_disease": "ACSL6-related disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "ACSL6-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}