← 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: 17-7224207-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7224207&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7224207,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001270447.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1496G>C",
"hgvs_p": "p.Gly499Ala",
"transcript": "NM_000018.4",
"protein_id": "NP_000009.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 655,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 2184,
"mane_select": "ENST00000356839.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000018.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1496G>C",
"hgvs_p": "p.Gly499Ala",
"transcript": "ENST00000356839.10",
"protein_id": "ENSP00000349297.5",
"transcript_support_level": 1,
"aa_start": 499,
"aa_end": null,
"aa_length": 655,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 2184,
"mane_select": "NM_000018.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356839.10"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1430G>C",
"hgvs_p": "p.Gly477Ala",
"transcript": "ENST00000350303.9",
"protein_id": "ENSP00000344152.5",
"transcript_support_level": 1,
"aa_start": 477,
"aa_end": null,
"aa_length": 633,
"cds_start": 1430,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 2191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350303.9"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1565G>C",
"hgvs_p": "p.Gly522Ala",
"transcript": "NM_001270447.2",
"protein_id": "NP_001257376.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 678,
"cds_start": 1565,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270447.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1565G>C",
"hgvs_p": "p.Gly522Ala",
"transcript": "ENST00000543245.6",
"protein_id": "ENSP00000438689.2",
"transcript_support_level": 2,
"aa_start": 522,
"aa_end": null,
"aa_length": 678,
"cds_start": 1565,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543245.6"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1538G>C",
"hgvs_p": "p.Gly513Ala",
"transcript": "ENST00000945302.1",
"protein_id": "ENSP00000615361.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 669,
"cds_start": 1538,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 2268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945302.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1526G>C",
"hgvs_p": "p.Gly509Ala",
"transcript": "ENST00000883761.1",
"protein_id": "ENSP00000553820.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 665,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1630,
"cdna_end": null,
"cdna_length": 2269,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883761.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1520G>C",
"hgvs_p": "p.Gly507Ala",
"transcript": "ENST00000945308.1",
"protein_id": "ENSP00000615367.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 663,
"cds_start": 1520,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 2223,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945308.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1514G>C",
"hgvs_p": "p.Gly505Ala",
"transcript": "ENST00000883770.1",
"protein_id": "ENSP00000553829.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 661,
"cds_start": 1514,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1577,
"cdna_end": null,
"cdna_length": 2218,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883770.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1496G>C",
"hgvs_p": "p.Gly499Ala",
"transcript": "ENST00000916066.1",
"protein_id": "ENSP00000586125.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 655,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916066.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1496G>C",
"hgvs_p": "p.Gly499Ala",
"transcript": "ENST00000916068.1",
"protein_id": "ENSP00000586127.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 655,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 2220,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916068.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1493G>C",
"hgvs_p": "p.Gly498Ala",
"transcript": "ENST00000883764.1",
"protein_id": "ENSP00000553823.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 654,
"cds_start": 1493,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883764.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1496G>C",
"hgvs_p": "p.Gly499Ala",
"transcript": "ENST00000883757.1",
"protein_id": "ENSP00000553816.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 652,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1646,
"cdna_end": null,
"cdna_length": 2279,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883757.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1487G>C",
"hgvs_p": "p.Gly496Ala",
"transcript": "ENST00000945291.1",
"protein_id": "ENSP00000615350.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 652,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1618,
"cdna_end": null,
"cdna_length": 2257,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945291.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1496G>C",
"hgvs_p": "p.Gly499Ala",
"transcript": "ENST00000945298.1",
"protein_id": "ENSP00000615357.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 651,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1585,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945298.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1481G>C",
"hgvs_p": "p.Gly494Ala",
"transcript": "ENST00000945297.1",
"protein_id": "ENSP00000615356.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 650,
"cds_start": 1481,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1571,
"cdna_end": null,
"cdna_length": 2213,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945297.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1496G>C",
"hgvs_p": "p.Gly499Ala",
"transcript": "ENST00000883762.1",
"protein_id": "ENSP00000553821.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 647,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 2209,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883762.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1496G>C",
"hgvs_p": "p.Gly499Ala",
"transcript": "ENST00000883763.1",
"protein_id": "ENSP00000553822.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 647,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1589,
"cdna_end": null,
"cdna_length": 2206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883763.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1472G>C",
"hgvs_p": "p.Gly491Ala",
"transcript": "ENST00000945292.1",
"protein_id": "ENSP00000615351.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 647,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 2225,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945292.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1469G>C",
"hgvs_p": "p.Gly490Ala",
"transcript": "ENST00000945303.1",
"protein_id": "ENSP00000615362.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 646,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1559,
"cdna_end": null,
"cdna_length": 2199,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945303.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1463G>C",
"hgvs_p": "p.Gly488Ala",
"transcript": "ENST00000945299.1",
"protein_id": "ENSP00000615358.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 644,
"cds_start": 1463,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1553,
"cdna_end": null,
"cdna_length": 2193,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945299.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1457G>C",
"hgvs_p": "p.Gly486Ala",
"transcript": "ENST00000945300.1",
"protein_id": "ENSP00000615359.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 642,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 2187,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945300.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1448G>C",
"hgvs_p": "p.Gly483Ala",
"transcript": "ENST00000945293.1",
"protein_id": "ENSP00000615352.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 639,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 2200,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945293.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1430G>C",
"hgvs_p": "p.Gly477Ala",
"transcript": "NM_001033859.3",
"protein_id": "NP_001029031.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 633,
"cds_start": 1430,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1477,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033859.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1430G>C",
"hgvs_p": "p.Gly477Ala",
"transcript": "ENST00000945301.1",
"protein_id": "ENSP00000615360.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 633,
"cds_start": 1430,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945301.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1409G>C",
"hgvs_p": "p.Gly470Ala",
"transcript": "ENST00000945306.1",
"protein_id": "ENSP00000615365.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 633,
"cds_start": 1409,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 2142,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945306.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1427G>C",
"hgvs_p": "p.Gly476Ala",
"transcript": "ENST00000883760.1",
"protein_id": "ENSP00000553819.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 632,
"cds_start": 1427,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1534,
"cdna_end": null,
"cdna_length": 2174,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883760.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1424G>C",
"hgvs_p": "p.Gly475Ala",
"transcript": "ENST00000945294.1",
"protein_id": "ENSP00000615353.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 631,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1528,
"cdna_end": null,
"cdna_length": 2170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945294.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1430G>C",
"hgvs_p": "p.Gly477Ala",
"transcript": "ENST00000945310.1",
"protein_id": "ENSP00000615369.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 630,
"cds_start": 1430,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 2111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945310.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1409G>C",
"hgvs_p": "p.Gly470Ala",
"transcript": "ENST00000883758.1",
"protein_id": "ENSP00000553817.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 626,
"cds_start": 1409,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883758.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1430G>C",
"hgvs_p": "p.Gly477Ala",
"transcript": "ENST00000945312.1",
"protein_id": "ENSP00000615371.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 625,
"cds_start": 1430,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1441,
"cdna_end": null,
"cdna_length": 2057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945312.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1391G>C",
"hgvs_p": "p.Gly464Ala",
"transcript": "ENST00000883768.1",
"protein_id": "ENSP00000553827.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 620,
"cds_start": 1391,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 1460,
"cdna_end": null,
"cdna_length": 2101,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883768.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1388G>C",
"hgvs_p": "p.Gly463Ala",
"transcript": "ENST00000945295.1",
"protein_id": "ENSP00000615354.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 619,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 2133,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945295.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1382G>C",
"hgvs_p": "p.Gly461Ala",
"transcript": "ENST00000945296.1",
"protein_id": "ENSP00000615355.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 617,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1478,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945296.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1367G>C",
"hgvs_p": "p.Gly456Ala",
"transcript": "ENST00000916071.1",
"protein_id": "ENSP00000586130.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 612,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 2016,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916071.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1361G>C",
"hgvs_p": "p.Gly454Ala",
"transcript": "ENST00000883759.1",
"protein_id": "ENSP00000553818.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 610,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883759.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1361G>C",
"hgvs_p": "p.Gly454Ala",
"transcript": "ENST00000883767.1",
"protein_id": "ENSP00000553826.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 610,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1446,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883767.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1343G>C",
"hgvs_p": "p.Gly448Ala",
"transcript": "ENST00000883765.1",
"protein_id": "ENSP00000553824.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 604,
"cds_start": 1343,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 2073,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883765.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1325G>C",
"hgvs_p": "p.Gly442Ala",
"transcript": "ENST00000945304.1",
"protein_id": "ENSP00000615363.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 598,
"cds_start": 1325,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1408,
"cdna_end": null,
"cdna_length": 2048,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945304.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1304G>C",
"hgvs_p": "p.Gly435Ala",
"transcript": "ENST00000945309.1",
"protein_id": "ENSP00000615368.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 591,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945309.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1295G>C",
"hgvs_p": "p.Gly432Ala",
"transcript": "ENST00000945305.1",
"protein_id": "ENSP00000615364.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 588,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 2016,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945305.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1271G>C",
"hgvs_p": "p.Gly424Ala",
"transcript": "ENST00000945307.1",
"protein_id": "ENSP00000615366.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 580,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 1981,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945307.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1268G>C",
"hgvs_p": "p.Gly423Ala",
"transcript": "NM_001270448.2",
"protein_id": "NP_001257377.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 579,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1618,
"cdna_end": null,
"cdna_length": 2259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270448.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1223G>C",
"hgvs_p": "p.Gly408Ala",
"transcript": "ENST00000883769.1",
"protein_id": "ENSP00000553828.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 564,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 1929,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883769.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.830G>C",
"hgvs_p": "p.Gly277Ala",
"transcript": "ENST00000916067.1",
"protein_id": "ENSP00000586126.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 433,
"cds_start": 830,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 1561,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916067.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.827G>C",
"hgvs_p": "p.Gly276Ala",
"transcript": "ENST00000916070.1",
"protein_id": "ENSP00000586129.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 432,
"cds_start": 827,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 1496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916070.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.623G>C",
"hgvs_p": "p.Gly208Ala",
"transcript": "ENST00000883771.1",
"protein_id": "ENSP00000553830.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 364,
"cds_start": 623,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 1316,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883771.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.569G>C",
"hgvs_p": "p.Gly190Ala",
"transcript": "ENST00000916069.1",
"protein_id": "ENSP00000586128.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 346,
"cds_start": 569,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 1280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916069.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.503G>C",
"hgvs_p": "p.Gly168Ala",
"transcript": "ENST00000945313.1",
"protein_id": "ENSP00000615372.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 324,
"cds_start": 503,
"cds_end": null,
"cds_length": 975,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 1153,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945313.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.353G>C",
"hgvs_p": "p.Gly118Ala",
"transcript": "ENST00000542255.6",
"protein_id": "ENSP00000442082.2",
"transcript_support_level": 5,
"aa_start": 118,
"aa_end": null,
"aa_length": 281,
"cds_start": 353,
"cds_end": null,
"cds_length": 846,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 1016,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542255.6"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1496G>C",
"hgvs_p": "p.Gly499Ala",
"transcript": "XM_006721516.4",
"protein_id": "XP_006721579.2",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 662,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 2205,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721516.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1496G>C",
"hgvs_p": "p.Gly499Ala",
"transcript": "XM_047435931.1",
"protein_id": "XP_047291887.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 549,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 1702,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435931.1"
},
{
"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": 14,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1435-114G>C",
"hgvs_p": null,
"transcript": "ENST00000945311.1",
"protein_id": "ENSP00000615370.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 628,
"cds_start": null,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945311.1"
},
{
"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": 19,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1435-114G>C",
"hgvs_p": null,
"transcript": "ENST00000883766.1",
"protein_id": "ENSP00000553825.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 621,
"cds_start": null,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883766.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.271-114G>C",
"hgvs_p": null,
"transcript": "ENST00000579546.1",
"protein_id": "ENSP00000464254.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": null,
"cds_end": null,
"cds_length": 581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579546.1"
},
{
"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": 14,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1435-114G>C",
"hgvs_p": null,
"transcript": "XM_011523829.3",
"protein_id": "XP_011522131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 628,
"cds_start": null,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523829.3"
},
{
"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": 19,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1435-114G>C",
"hgvs_p": null,
"transcript": "XM_011523830.3",
"protein_id": "XP_011522132.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 621,
"cds_start": null,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523830.3"
},
{
"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": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1435-114G>C",
"hgvs_p": null,
"transcript": "XM_047435932.1",
"protein_id": "XP_047291888.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 527,
"cds_start": null,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"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": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.*1451G>C",
"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": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.703G>C",
"hgvs_p": null,
"transcript": "ENST00000578711.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 1732,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000578711.1"
},
{
"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.104G>C",
"hgvs_p": null,
"transcript": "ENST00000579391.1",
"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": 341,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000579391.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.612G>C",
"hgvs_p": null,
"transcript": "ENST00000579425.5",
"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": 1234,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000579425.5"
},
{
"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.283G>C",
"hgvs_p": null,
"transcript": "ENST00000579894.5",
"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": 429,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000579894.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.271G>C",
"hgvs_p": null,
"transcript": "ENST00000583850.5",
"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": 903,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000583850.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.687G>C",
"hgvs_p": null,
"transcript": "ENST00000585203.6",
"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": 947,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000585203.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.*1451G>C",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.154-114G>C",
"hgvs_p": null,
"transcript": "ENST00000583074.5",
"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": 410,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000583074.5"
},
{
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.463-114G>C",
"hgvs_p": null,
"transcript": "ENST00000583858.5",
"protein_id": "ENSP00000462611.1",
"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": 1015,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000583858.5"
},
{
"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": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.1482-114G>C",
"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": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.-10G>C",
"hgvs_p": null,
"transcript": "ENST00000578319.5",
"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": 718,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000578319.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.-10G>C",
"hgvs_p": null,
"transcript": "ENST00000578809.5",
"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": 709,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000578809.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.-74G>C",
"hgvs_p": null,
"transcript": "ENST00000582450.1",
"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": 294,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000582450.1"
}
],
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"dbsnp": "rs764943140",
"frequency_reference_population": 0.0000030978397,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000205235,
"gnomad_genomes_af": 0.0000131328,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.44995996356010437,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.666,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1538,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.406,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001270447.2",
"gene_symbol": "ACADVL",
"hgnc_id": 92,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1565G>C",
"hgvs_p": "p.Gly522Ala"
}
],
"clinvar_disease": "Very long chain acyl-CoA dehydrogenase deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Very long chain acyl-CoA dehydrogenase deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}