← 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: 17-7221981-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7221981&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7221981,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_001270447.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.652G>T",
"hgvs_p": "p.Glu218*",
"transcript": "NM_000018.4",
"protein_id": "NP_000009.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 655,
"cds_start": 652,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 2184,
"mane_select": "ENST00000356839.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000018.4"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.652G>T",
"hgvs_p": "p.Glu218*",
"transcript": "ENST00000356839.10",
"protein_id": "ENSP00000349297.5",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 655,
"cds_start": 652,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 2184,
"mane_select": "NM_000018.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356839.10"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.586G>T",
"hgvs_p": "p.Glu196*",
"transcript": "ENST00000350303.9",
"protein_id": "ENSP00000344152.5",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 633,
"cds_start": 586,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 2191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350303.9"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Glu241*",
"transcript": "NM_001270447.2",
"protein_id": "NP_001257376.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 678,
"cds_start": 721,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270447.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Glu241*",
"transcript": "ENST00000543245.6",
"protein_id": "ENSP00000438689.2",
"transcript_support_level": 2,
"aa_start": 241,
"aa_end": null,
"aa_length": 678,
"cds_start": 721,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543245.6"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.652G>T",
"hgvs_p": "p.Glu218*",
"transcript": "ENST00000945302.1",
"protein_id": "ENSP00000615361.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 669,
"cds_start": 652,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 2268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945302.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.682G>T",
"hgvs_p": "p.Glu228*",
"transcript": "ENST00000883761.1",
"protein_id": "ENSP00000553820.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 665,
"cds_start": 682,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 2269,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883761.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.652G>T",
"hgvs_p": "p.Glu218*",
"transcript": "ENST00000945308.1",
"protein_id": "ENSP00000615367.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 663,
"cds_start": 652,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 2223,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945308.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.670G>T",
"hgvs_p": "p.Glu224*",
"transcript": "ENST00000883770.1",
"protein_id": "ENSP00000553829.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 661,
"cds_start": 670,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 2218,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883770.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.652G>T",
"hgvs_p": "p.Glu218*",
"transcript": "ENST00000916066.1",
"protein_id": "ENSP00000586125.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 655,
"cds_start": 652,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916066.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.652G>T",
"hgvs_p": "p.Glu218*",
"transcript": "ENST00000916068.1",
"protein_id": "ENSP00000586127.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 655,
"cds_start": 652,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 2220,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916068.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.652G>T",
"hgvs_p": "p.Glu218*",
"transcript": "ENST00000883764.1",
"protein_id": "ENSP00000553823.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 654,
"cds_start": 652,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883764.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.652G>T",
"hgvs_p": "p.Glu218*",
"transcript": "ENST00000883757.1",
"protein_id": "ENSP00000553816.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 652,
"cds_start": 652,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 2279,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883757.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.643G>T",
"hgvs_p": "p.Glu215*",
"transcript": "ENST00000945291.1",
"protein_id": "ENSP00000615350.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 652,
"cds_start": 643,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 2257,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945291.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.652G>T",
"hgvs_p": "p.Glu218*",
"transcript": "ENST00000945298.1",
"protein_id": "ENSP00000615357.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 651,
"cds_start": 652,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945298.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.652G>T",
"hgvs_p": "p.Glu218*",
"transcript": "ENST00000945297.1",
"protein_id": "ENSP00000615356.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 650,
"cds_start": 652,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 2213,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945297.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.652G>T",
"hgvs_p": "p.Glu218*",
"transcript": "ENST00000883762.1",
"protein_id": "ENSP00000553821.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 647,
"cds_start": 652,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 2209,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883762.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.652G>T",
"hgvs_p": "p.Glu218*",
"transcript": "ENST00000883763.1",
"protein_id": "ENSP00000553822.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 647,
"cds_start": 652,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 2206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883763.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.586G>T",
"hgvs_p": "p.Glu196*",
"transcript": "ENST00000945292.1",
"protein_id": "ENSP00000615351.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 647,
"cds_start": 586,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 2225,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945292.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.652G>T",
"hgvs_p": "p.Glu218*",
"transcript": "ENST00000945303.1",
"protein_id": "ENSP00000615362.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 646,
"cds_start": 652,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 2199,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945303.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.619G>T",
"hgvs_p": "p.Glu207*",
"transcript": "ENST00000945299.1",
"protein_id": "ENSP00000615358.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 644,
"cds_start": 619,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 2193,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945299.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.613G>T",
"hgvs_p": "p.Glu205*",
"transcript": "ENST00000945300.1",
"protein_id": "ENSP00000615359.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 642,
"cds_start": 613,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 2187,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945300.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.652G>T",
"hgvs_p": "p.Glu218*",
"transcript": "ENST00000945293.1",
"protein_id": "ENSP00000615352.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 639,
"cds_start": 652,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 2200,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945293.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.586G>T",
"hgvs_p": "p.Glu196*",
"transcript": "NM_001033859.3",
"protein_id": "NP_001029031.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 633,
"cds_start": 586,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033859.3"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.586G>T",
"hgvs_p": "p.Glu196*",
"transcript": "ENST00000945301.1",
"protein_id": "ENSP00000615360.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 633,
"cds_start": 586,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945301.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.652G>T",
"hgvs_p": "p.Glu218*",
"transcript": "ENST00000945306.1",
"protein_id": "ENSP00000615365.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 633,
"cds_start": 652,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 2142,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945306.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.583G>T",
"hgvs_p": "p.Glu195*",
"transcript": "ENST00000883760.1",
"protein_id": "ENSP00000553819.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 632,
"cds_start": 583,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 2174,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883760.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.652G>T",
"hgvs_p": "p.Glu218*",
"transcript": "ENST00000945294.1",
"protein_id": "ENSP00000615353.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 631,
"cds_start": 652,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 756,
"cdna_end": null,
"cdna_length": 2170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945294.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.586G>T",
"hgvs_p": "p.Glu196*",
"transcript": "ENST00000945310.1",
"protein_id": "ENSP00000615369.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 630,
"cds_start": 586,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 2111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945310.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.652G>T",
"hgvs_p": "p.Glu218*",
"transcript": "ENST00000945311.1",
"protein_id": "ENSP00000615370.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 628,
"cds_start": 652,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945311.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.652G>T",
"hgvs_p": "p.Glu218*",
"transcript": "ENST00000883758.1",
"protein_id": "ENSP00000553817.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 626,
"cds_start": 652,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883758.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.586G>T",
"hgvs_p": "p.Glu196*",
"transcript": "ENST00000945312.1",
"protein_id": "ENSP00000615371.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 625,
"cds_start": 586,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 597,
"cdna_end": null,
"cdna_length": 2057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945312.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.652G>T",
"hgvs_p": "p.Glu218*",
"transcript": "ENST00000883766.1",
"protein_id": "ENSP00000553825.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 621,
"cds_start": 652,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 2123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883766.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.652G>T",
"hgvs_p": "p.Glu218*",
"transcript": "ENST00000883768.1",
"protein_id": "ENSP00000553827.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 620,
"cds_start": 652,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 2101,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883768.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.544G>T",
"hgvs_p": "p.Glu182*",
"transcript": "ENST00000945295.1",
"protein_id": "ENSP00000615354.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 619,
"cds_start": 544,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 2133,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945295.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.586G>T",
"hgvs_p": "p.Glu196*",
"transcript": "ENST00000945296.1",
"protein_id": "ENSP00000615355.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 617,
"cds_start": 586,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945296.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.586G>T",
"hgvs_p": "p.Glu196*",
"transcript": "ENST00000916071.1",
"protein_id": "ENSP00000586130.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 612,
"cds_start": 586,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 597,
"cdna_end": null,
"cdna_length": 2016,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916071.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.517G>T",
"hgvs_p": "p.Glu173*",
"transcript": "ENST00000883759.1",
"protein_id": "ENSP00000553818.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 610,
"cds_start": 517,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883759.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.652G>T",
"hgvs_p": "p.Glu218*",
"transcript": "ENST00000883767.1",
"protein_id": "ENSP00000553826.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 610,
"cds_start": 652,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883767.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.586G>T",
"hgvs_p": "p.Glu196*",
"transcript": "ENST00000883765.1",
"protein_id": "ENSP00000553824.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 604,
"cds_start": 586,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 2073,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883765.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.586G>T",
"hgvs_p": "p.Glu196*",
"transcript": "ENST00000945304.1",
"protein_id": "ENSP00000615363.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 598,
"cds_start": 586,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 2048,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945304.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.652G>T",
"hgvs_p": "p.Glu218*",
"transcript": "ENST00000945309.1",
"protein_id": "ENSP00000615368.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 591,
"cds_start": 652,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945309.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.451G>T",
"hgvs_p": "p.Glu151*",
"transcript": "ENST00000945305.1",
"protein_id": "ENSP00000615364.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 588,
"cds_start": 451,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 2016,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945305.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.424G>T",
"hgvs_p": "p.Glu142*",
"transcript": "NM_001270448.2",
"protein_id": "NP_001257377.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 579,
"cds_start": 424,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 2259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270448.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.379G>T",
"hgvs_p": "p.Glu127*",
"transcript": "ENST00000883769.1",
"protein_id": "ENSP00000553828.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 564,
"cds_start": 379,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 1929,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883769.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.667G>T",
"hgvs_p": "p.Glu223*",
"transcript": "ENST00000583312.5",
"protein_id": "ENSP00000467920.1",
"transcript_support_level": 3,
"aa_start": 223,
"aa_end": null,
"aa_length": 223,
"cds_start": 667,
"cds_end": null,
"cds_length": 674,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 799,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583312.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.652G>T",
"hgvs_p": "p.Glu218*",
"transcript": "XM_006721516.4",
"protein_id": "XP_006721579.2",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 662,
"cds_start": 652,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 2205,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721516.4"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.652G>T",
"hgvs_p": "p.Glu218*",
"transcript": "XM_011523829.3",
"protein_id": "XP_011522131.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 628,
"cds_start": 652,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523829.3"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.652G>T",
"hgvs_p": "p.Glu218*",
"transcript": "XM_011523830.3",
"protein_id": "XP_011522132.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 621,
"cds_start": 652,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523830.3"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.652G>T",
"hgvs_p": "p.Glu218*",
"transcript": "XM_047435931.1",
"protein_id": "XP_047291887.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 549,
"cds_start": 652,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 1702,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435931.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.652G>T",
"hgvs_p": "p.Glu218*",
"transcript": "XM_047435932.1",
"protein_id": "XP_047291888.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 527,
"cds_start": 652,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 1646,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435932.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.478-146G>T",
"hgvs_p": null,
"transcript": "ENST00000945307.1",
"protein_id": "ENSP00000615366.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": null,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1981,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945307.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.411+923G>T",
"hgvs_p": null,
"transcript": "ENST00000916067.1",
"protein_id": "ENSP00000586126.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 433,
"cds_start": null,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1561,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916067.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.259-735G>T",
"hgvs_p": null,
"transcript": "ENST00000916070.1",
"protein_id": "ENSP00000586129.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 432,
"cds_start": null,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916070.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.205-1152G>T",
"hgvs_p": null,
"transcript": "ENST00000883771.1",
"protein_id": "ENSP00000553830.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 364,
"cds_start": null,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1316,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883771.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.342+1151G>T",
"hgvs_p": null,
"transcript": "ENST00000916069.1",
"protein_id": "ENSP00000586128.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 346,
"cds_start": null,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916069.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.276+1151G>T",
"hgvs_p": null,
"transcript": "ENST00000945313.1",
"protein_id": "ENSP00000615372.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": null,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1153,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945313.1"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.*607G>T",
"hgvs_p": null,
"transcript": "ENST00000322910.9",
"protein_id": "ENSP00000325395.5",
"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": 2352,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000322910.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.729G>T",
"hgvs_p": null,
"transcript": "ENST00000577191.5",
"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": 1212,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000577191.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.468G>T",
"hgvs_p": null,
"transcript": "ENST00000577857.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 566,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000577857.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.833G>T",
"hgvs_p": null,
"transcript": "ENST00000579286.5",
"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": 933,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000579286.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.383G>T",
"hgvs_p": null,
"transcript": "ENST00000580365.1",
"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": 494,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000580365.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.*140G>T",
"hgvs_p": null,
"transcript": "ENST00000581378.5",
"protein_id": "ENSP00000462366.1",
"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": 752,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000581378.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.554G>T",
"hgvs_p": null,
"transcript": "ENST00000581562.5",
"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": 571,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000581562.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.36G>T",
"hgvs_p": null,
"transcript": "ENST00000582379.1",
"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": 833,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000582379.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.434G>T",
"hgvs_p": null,
"transcript": "ENST00000583760.1",
"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": 599,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000583760.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.699G>T",
"hgvs_p": null,
"transcript": "XR_007065296.1",
"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": 1740,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007065296.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.*607G>T",
"hgvs_p": null,
"transcript": "ENST00000322910.9",
"protein_id": "ENSP00000325395.5",
"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": 2352,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000322910.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.*140G>T",
"hgvs_p": null,
"transcript": "ENST00000581378.5",
"protein_id": "ENSP00000462366.1",
"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": 752,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000581378.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.*25G>T",
"hgvs_p": null,
"transcript": "ENST00000579886.2",
"protein_id": "ENSP00000463246.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 154,
"cds_start": null,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 502,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579886.2"
}
],
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"dbsnp": "rs1432183079",
"frequency_reference_population": 6.840572e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84057e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5899999737739563,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.522,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.07,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "NM_001270447.2",
"gene_symbol": "ACADVL",
"hgnc_id": 92,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Glu241*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}