← 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: 11-65525631-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65525631&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65525631,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_020680.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "NM_020680.4",
"protein_id": "NP_065731.3",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 808,
"cds_start": 169,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000270176.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020680.4"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000270176.10",
"protein_id": "ENSP00000270176.5",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 808,
"cds_start": 169,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020680.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000270176.10"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000420247.6",
"protein_id": "ENSP00000408192.2",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 791,
"cds_start": 169,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420247.6"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000524944.5",
"protein_id": "ENSP00000432175.1",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 775,
"cds_start": 169,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524944.5"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000872768.1",
"protein_id": "ENSP00000542827.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 819,
"cds_start": 169,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872768.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000939459.1",
"protein_id": "ENSP00000609518.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 814,
"cds_start": 169,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939459.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "NM_001425179.1",
"protein_id": "NP_001412108.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 807,
"cds_start": 169,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425179.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "NM_001425180.1",
"protein_id": "NP_001412109.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 807,
"cds_start": 169,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425180.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "NM_001425181.1",
"protein_id": "NP_001412110.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 807,
"cds_start": 169,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425181.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000872762.1",
"protein_id": "ENSP00000542821.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 807,
"cds_start": 169,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872762.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000939456.1",
"protein_id": "ENSP00000609515.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 807,
"cds_start": 169,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939456.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "NM_001425182.1",
"protein_id": "NP_001412111.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 806,
"cds_start": 169,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425182.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000872776.1",
"protein_id": "ENSP00000542835.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 806,
"cds_start": 169,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872776.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000872781.1",
"protein_id": "ENSP00000542840.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 806,
"cds_start": 169,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872781.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000939455.1",
"protein_id": "ENSP00000609514.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 806,
"cds_start": 169,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939455.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000872771.1",
"protein_id": "ENSP00000542830.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 798,
"cds_start": 169,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872771.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000971861.1",
"protein_id": "ENSP00000641920.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 796,
"cds_start": 169,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971861.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000872775.1",
"protein_id": "ENSP00000542834.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 794,
"cds_start": 169,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872775.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "NM_001048218.2",
"protein_id": "NP_001041683.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 791,
"cds_start": 169,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001048218.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "NM_001425183.1",
"protein_id": "NP_001412112.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 790,
"cds_start": 169,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425183.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "NM_001425184.1",
"protein_id": "NP_001412113.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 790,
"cds_start": 169,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425184.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000872763.1",
"protein_id": "ENSP00000542822.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 790,
"cds_start": 169,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872763.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000872764.1",
"protein_id": "ENSP00000542823.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 790,
"cds_start": 169,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872764.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000872770.1",
"protein_id": "ENSP00000542829.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 790,
"cds_start": 169,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872770.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000872766.1",
"protein_id": "ENSP00000542825.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 788,
"cds_start": 169,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872766.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "NM_001425185.1",
"protein_id": "NP_001412114.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 787,
"cds_start": 169,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425185.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000533862.5",
"protein_id": "ENSP00000437254.1",
"transcript_support_level": 5,
"aa_start": 57,
"aa_end": null,
"aa_length": 787,
"cds_start": 169,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533862.5"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000971872.1",
"protein_id": "ENSP00000641931.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 787,
"cds_start": 169,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971872.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "NM_001425186.1",
"protein_id": "NP_001412115.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 786,
"cds_start": 169,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425186.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "NM_001425187.1",
"protein_id": "NP_001412116.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 782,
"cds_start": 169,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425187.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000872783.1",
"protein_id": "ENSP00000542842.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 782,
"cds_start": 169,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872783.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "NM_001425188.1",
"protein_id": "NP_001412117.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 781,
"cds_start": 169,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425188.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000971862.1",
"protein_id": "ENSP00000641921.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 781,
"cds_start": 169,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971862.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "NM_001411022.1",
"protein_id": "NP_001397951.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 780,
"cds_start": 169,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411022.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "NM_001425189.1",
"protein_id": "NP_001412118.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 780,
"cds_start": 169,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425189.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "NM_001425190.1",
"protein_id": "NP_001412119.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 780,
"cds_start": 169,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425190.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000525364.5",
"protein_id": "ENSP00000431635.1",
"transcript_support_level": 5,
"aa_start": 57,
"aa_end": null,
"aa_length": 780,
"cds_start": 169,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525364.5"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000872773.1",
"protein_id": "ENSP00000542832.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 780,
"cds_start": 169,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872773.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000939460.1",
"protein_id": "ENSP00000609519.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 779,
"cds_start": 169,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939460.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000971864.1",
"protein_id": "ENSP00000641923.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 778,
"cds_start": 169,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971864.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000971869.1",
"protein_id": "ENSP00000641928.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 777,
"cds_start": 169,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971869.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000872778.1",
"protein_id": "ENSP00000542837.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 773,
"cds_start": 169,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872778.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000872774.1",
"protein_id": "ENSP00000542833.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 771,
"cds_start": 169,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872774.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "NM_001425191.1",
"protein_id": "NP_001412120.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 770,
"cds_start": 169,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425191.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "NM_001425192.1",
"protein_id": "NP_001412121.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 770,
"cds_start": 169,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425192.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000872779.1",
"protein_id": "ENSP00000542838.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 770,
"cds_start": 169,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872779.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000939457.1",
"protein_id": "ENSP00000609516.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 765,
"cds_start": 169,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939457.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "NM_001425193.1",
"protein_id": "NP_001412122.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 764,
"cds_start": 169,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425193.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "NM_001425194.1",
"protein_id": "NP_001412123.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 764,
"cds_start": 169,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425194.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000971868.1",
"protein_id": "ENSP00000641927.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 764,
"cds_start": 169,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971868.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "NM_001425195.1",
"protein_id": "NP_001412124.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 763,
"cds_start": 169,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425195.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000872769.1",
"protein_id": "ENSP00000542828.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 763,
"cds_start": 169,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872769.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000872772.1",
"protein_id": "ENSP00000542831.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 763,
"cds_start": 169,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872772.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "NM_001425196.1",
"protein_id": "NP_001412125.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 762,
"cds_start": 169,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425196.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000971867.1",
"protein_id": "ENSP00000641926.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 759,
"cds_start": 169,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971867.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000872765.1",
"protein_id": "ENSP00000542824.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 758,
"cds_start": 169,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872765.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "NM_001425197.1",
"protein_id": "NP_001412126.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 757,
"cds_start": 169,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425197.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000872777.1",
"protein_id": "ENSP00000542836.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 757,
"cds_start": 169,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872777.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000971865.1",
"protein_id": "ENSP00000641924.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 757,
"cds_start": 169,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971865.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000872782.1",
"protein_id": "ENSP00000542841.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 756,
"cds_start": 169,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872782.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000971863.1",
"protein_id": "ENSP00000641922.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 750,
"cds_start": 169,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971863.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000872767.1",
"protein_id": "ENSP00000542826.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 747,
"cds_start": 169,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872767.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "NM_001425198.1",
"protein_id": "NP_001412127.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 745,
"cds_start": 169,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425198.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000872780.1",
"protein_id": "ENSP00000542839.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 741,
"cds_start": 169,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872780.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000971866.1",
"protein_id": "ENSP00000641925.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 736,
"cds_start": 169,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971866.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000971871.1",
"protein_id": "ENSP00000641930.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 736,
"cds_start": 169,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971871.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "NM_001425201.1",
"protein_id": "NP_001412130.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 709,
"cds_start": 169,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425201.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000971870.1",
"protein_id": "ENSP00000641929.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 699,
"cds_start": 169,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971870.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "NM_001425202.1",
"protein_id": "NP_001412131.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 692,
"cds_start": 169,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425202.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*",
"transcript": "ENST00000939458.1",
"protein_id": "ENSP00000609517.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 641,
"cds_start": 169,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939458.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.-92C>T",
"hgvs_p": null,
"transcript": "NM_001425199.1",
"protein_id": "NP_001412128.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 723,
"cds_start": null,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425199.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.-92C>T",
"hgvs_p": null,
"transcript": "NM_001425200.1",
"protein_id": "NP_001412129.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 720,
"cds_start": null,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425200.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.-261C>T",
"hgvs_p": null,
"transcript": "NM_001425203.1",
"protein_id": "NP_001412132.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 665,
"cds_start": null,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425203.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.-261C>T",
"hgvs_p": null,
"transcript": "ENST00000527009.5",
"protein_id": "ENSP00000436993.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 665,
"cds_start": null,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527009.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.-261C>T",
"hgvs_p": null,
"transcript": "NM_001425204.1",
"protein_id": "NP_001412133.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 664,
"cds_start": null,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425204.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.-261C>T",
"hgvs_p": null,
"transcript": "NM_001425205.1",
"protein_id": "NP_001412134.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 648,
"cds_start": null,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425205.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.-257C>T",
"hgvs_p": null,
"transcript": "NM_001425206.1",
"protein_id": "NP_001412135.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 647,
"cds_start": null,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425206.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.-261C>T",
"hgvs_p": null,
"transcript": "NM_001425207.1",
"protein_id": "NP_001412136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 638,
"cds_start": null,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425207.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.-217C>T",
"hgvs_p": null,
"transcript": "NM_001425208.1",
"protein_id": "NP_001412137.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 604,
"cds_start": null,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425208.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.-217C>T",
"hgvs_p": null,
"transcript": "NM_001425209.1",
"protein_id": "NP_001412138.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 603,
"cds_start": null,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425209.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.-217C>T",
"hgvs_p": null,
"transcript": "NM_001425210.1",
"protein_id": "NP_001412139.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 587,
"cds_start": null,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425210.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.-217C>T",
"hgvs_p": null,
"transcript": "NM_001425211.1",
"protein_id": "NP_001412140.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": null,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425211.1"
}
],
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"dbsnp": "rs1554967681",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5699999928474426,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.57,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.649,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_020680.4",
"gene_symbol": "SCYL1",
"hgnc_id": 14372,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Gln57*"
}
],
"clinvar_disease": "Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}