← 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: 11-65536319-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65536319&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65536319,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000270176.10",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1636C>G",
"hgvs_p": "p.Gln546Glu",
"transcript": "NM_020680.4",
"protein_id": "NP_065731.3",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 808,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": "ENST00000270176.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1636C>G",
"hgvs_p": "p.Gln546Glu",
"transcript": "ENST00000270176.10",
"protein_id": "ENSP00000270176.5",
"transcript_support_level": 1,
"aa_start": 546,
"aa_end": null,
"aa_length": 808,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": "NM_020680.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1636C>G",
"hgvs_p": "p.Gln546Glu",
"transcript": "ENST00000420247.6",
"protein_id": "ENSP00000408192.2",
"transcript_support_level": 1,
"aa_start": 546,
"aa_end": null,
"aa_length": 791,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 2583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1636C>G",
"hgvs_p": "p.Gln546Glu",
"transcript": "ENST00000524944.5",
"protein_id": "ENSP00000432175.1",
"transcript_support_level": 1,
"aa_start": 546,
"aa_end": null,
"aa_length": 775,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1669,
"cdna_end": null,
"cdna_length": 2715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1636C>G",
"hgvs_p": "p.Gln546Glu",
"transcript": "NM_001425179.1",
"protein_id": "NP_001412108.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 807,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1633C>G",
"hgvs_p": "p.Gln545Glu",
"transcript": "NM_001425180.1",
"protein_id": "NP_001412109.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 807,
"cds_start": 1633,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1704,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1636C>G",
"hgvs_p": "p.Gln546Glu",
"transcript": "NM_001425181.1",
"protein_id": "NP_001412110.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 807,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1636C>G",
"hgvs_p": "p.Gln546Glu",
"transcript": "NM_001425182.1",
"protein_id": "NP_001412111.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 806,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1636C>G",
"hgvs_p": "p.Gln546Glu",
"transcript": "NM_001048218.2",
"protein_id": "NP_001041683.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 791,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1633C>G",
"hgvs_p": "p.Gln545Glu",
"transcript": "NM_001425183.1",
"protein_id": "NP_001412112.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 790,
"cds_start": 1633,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1704,
"cdna_end": null,
"cdna_length": 2582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1636C>G",
"hgvs_p": "p.Gln546Glu",
"transcript": "NM_001425184.1",
"protein_id": "NP_001412113.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 790,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 2582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1636C>G",
"hgvs_p": "p.Gln546Glu",
"transcript": "NM_001425185.1",
"protein_id": "NP_001412114.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 787,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1636C>G",
"hgvs_p": "p.Gln546Glu",
"transcript": "ENST00000533862.5",
"protein_id": "ENSP00000437254.1",
"transcript_support_level": 5,
"aa_start": 546,
"aa_end": null,
"aa_length": 787,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 1678,
"cdna_end": null,
"cdna_length": 2570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1636C>G",
"hgvs_p": "p.Gln546Glu",
"transcript": "NM_001425186.1",
"protein_id": "NP_001412115.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 786,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 2596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1558C>G",
"hgvs_p": "p.Gln520Glu",
"transcript": "NM_001425187.1",
"protein_id": "NP_001412116.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 782,
"cds_start": 1558,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1629,
"cdna_end": null,
"cdna_length": 2558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1636C>G",
"hgvs_p": "p.Gln546Glu",
"transcript": "NM_001425188.1",
"protein_id": "NP_001412117.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 781,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 2581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1636C>G",
"hgvs_p": "p.Gln546Glu",
"transcript": "NM_001411022.1",
"protein_id": "NP_001397951.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 780,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 2578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1552C>G",
"hgvs_p": "p.Gln518Glu",
"transcript": "NM_001425189.1",
"protein_id": "NP_001412118.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 780,
"cds_start": 1552,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1623,
"cdna_end": null,
"cdna_length": 2552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1636C>G",
"hgvs_p": "p.Gln546Glu",
"transcript": "NM_001425190.1",
"protein_id": "NP_001412119.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 780,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 2578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1636C>G",
"hgvs_p": "p.Gln546Glu",
"transcript": "ENST00000525364.5",
"protein_id": "ENSP00000431635.1",
"transcript_support_level": 5,
"aa_start": 546,
"aa_end": null,
"aa_length": 780,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1713,
"cdna_end": null,
"cdna_length": 2584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1522C>G",
"hgvs_p": "p.Gln508Glu",
"transcript": "NM_001425191.1",
"protein_id": "NP_001412120.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 770,
"cds_start": 1522,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1593,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1636C>G",
"hgvs_p": "p.Gln546Glu",
"transcript": "NM_001425192.1",
"protein_id": "NP_001412121.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 770,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 2548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1636C>G",
"hgvs_p": "p.Gln546Glu",
"transcript": "NM_001425193.1",
"protein_id": "NP_001412122.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 764,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 2504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1636C>G",
"hgvs_p": "p.Gln546Glu",
"transcript": "NM_001425194.1",
"protein_id": "NP_001412123.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 764,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 2530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1636C>G",
"hgvs_p": "p.Gln546Glu",
"transcript": "NM_001425195.1",
"protein_id": "NP_001412124.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 763,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 2527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1636C>G",
"hgvs_p": "p.Gln546Glu",
"transcript": "NM_001425196.1",
"protein_id": "NP_001412125.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 762,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 2655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1636C>G",
"hgvs_p": "p.Gln546Glu",
"transcript": "NM_001425197.1",
"protein_id": "NP_001412126.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 757,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 2483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1636C>G",
"hgvs_p": "p.Gln546Glu",
"transcript": "NM_001425198.1",
"protein_id": "NP_001412127.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 745,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 2604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1381C>G",
"hgvs_p": "p.Gln461Glu",
"transcript": "NM_001425199.1",
"protein_id": "NP_001412128.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 723,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 1712,
"cdna_end": null,
"cdna_length": 2641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1372C>G",
"hgvs_p": "p.Gln458Glu",
"transcript": "NM_001425200.1",
"protein_id": "NP_001412129.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 720,
"cds_start": 1372,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 1703,
"cdna_end": null,
"cdna_length": 2632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1636C>G",
"hgvs_p": "p.Gln546Glu",
"transcript": "NM_001425201.1",
"protein_id": "NP_001412130.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 709,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 2365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1636C>G",
"hgvs_p": "p.Gln546Glu",
"transcript": "NM_001425202.1",
"protein_id": "NP_001412131.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 692,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 2314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1207C>G",
"hgvs_p": "p.Gln403Glu",
"transcript": "NM_001425203.1",
"protein_id": "NP_001412132.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 665,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 2656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1207C>G",
"hgvs_p": "p.Gln403Glu",
"transcript": "ENST00000527009.5",
"protein_id": "ENSP00000436993.1",
"transcript_support_level": 5,
"aa_start": 403,
"aa_end": null,
"aa_length": 665,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 2586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1207C>G",
"hgvs_p": "p.Gln403Glu",
"transcript": "NM_001425204.1",
"protein_id": "NP_001412133.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 664,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 2653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1207C>G",
"hgvs_p": "p.Gln403Glu",
"transcript": "NM_001425205.1",
"protein_id": "NP_001412134.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 648,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 2605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1207C>G",
"hgvs_p": "p.Gln403Glu",
"transcript": "NM_001425206.1",
"protein_id": "NP_001412135.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 647,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1703,
"cdna_end": null,
"cdna_length": 2578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1207C>G",
"hgvs_p": "p.Gln403Glu",
"transcript": "NM_001425207.1",
"protein_id": "NP_001412136.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 638,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1024C>G",
"hgvs_p": "p.Gln342Glu",
"transcript": "NM_001425208.1",
"protein_id": "NP_001412137.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 604,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 2409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1024C>G",
"hgvs_p": "p.Gln342Glu",
"transcript": "NM_001425209.1",
"protein_id": "NP_001412138.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 603,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 2406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1024C>G",
"hgvs_p": "p.Gln342Glu",
"transcript": "NM_001425210.1",
"protein_id": "NP_001412139.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 587,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 2358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.1024C>G",
"hgvs_p": "p.Gln342Glu",
"transcript": "NM_001425211.1",
"protein_id": "NP_001412140.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 577,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 2354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "c.55C>G",
"hgvs_p": "p.Gln19Glu",
"transcript": "ENST00000528545.1",
"protein_id": "ENSP00000433604.1",
"transcript_support_level": 5,
"aa_start": 19,
"aa_end": null,
"aa_length": 280,
"cds_start": 55,
"cds_end": null,
"cds_length": 843,
"cdna_start": 55,
"cdna_end": null,
"cdna_length": 981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "n.502C>G",
"hgvs_p": null,
"transcript": "ENST00000524897.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "n.869C>G",
"hgvs_p": null,
"transcript": "ENST00000526454.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "n.441C>G",
"hgvs_p": null,
"transcript": "ENST00000529981.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"hgvs_c": "n.463C>G",
"hgvs_p": null,
"transcript": "ENST00000531601.1",
"protein_id": "ENSP00000431664.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SCYL1",
"gene_hgnc_id": 14372,
"dbsnp": "rs864309667",
"frequency_reference_population": 0.000004788584,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000478858,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16605299711227417,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.124,
"revel_prediction": "Benign",
"alphamissense_score": 0.1146,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.131,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000270176.10",
"gene_symbol": "SCYL1",
"hgnc_id": 14372,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1636C>G",
"hgvs_p": "p.Gln546Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}