← 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: X-53600167-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=53600167&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 53600167,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000262854.11",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Ile1038Ile",
"transcript": "NM_031407.7",
"protein_id": "NP_113584.3",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 4374,
"cds_start": 3114,
"cds_end": null,
"cds_length": 13125,
"cdna_start": 3507,
"cdna_end": null,
"cdna_length": 14731,
"mane_select": "ENST00000262854.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Ile1038Ile",
"transcript": "ENST00000262854.11",
"protein_id": "ENSP00000262854.6",
"transcript_support_level": 1,
"aa_start": 1038,
"aa_end": null,
"aa_length": 4374,
"cds_start": 3114,
"cds_end": null,
"cds_length": 13125,
"cdna_start": 3507,
"cdna_end": null,
"cdna_length": 14731,
"mane_select": "NM_031407.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Ile1038Ile",
"transcript": "NM_001441057.1",
"protein_id": "NP_001427986.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 4374,
"cds_start": 3114,
"cds_end": null,
"cds_length": 13125,
"cdna_start": 3404,
"cdna_end": null,
"cdna_length": 14628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Ile1038Ile",
"transcript": "ENST00000342160.7",
"protein_id": "ENSP00000340648.3",
"transcript_support_level": 5,
"aa_start": 1038,
"aa_end": null,
"aa_length": 4374,
"cds_start": 3114,
"cds_end": null,
"cds_length": 13125,
"cdna_start": 3572,
"cdna_end": null,
"cdna_length": 14796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Ile1038Ile",
"transcript": "NM_001441051.1",
"protein_id": "NP_001427980.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 4373,
"cds_start": 3114,
"cds_end": null,
"cds_length": 13122,
"cdna_start": 3507,
"cdna_end": null,
"cdna_length": 14728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Ile1038Ile",
"transcript": "NM_001441056.1",
"protein_id": "NP_001427985.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 4373,
"cds_start": 3114,
"cds_end": null,
"cds_length": 13122,
"cdna_start": 3539,
"cdna_end": null,
"cdna_length": 14760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3135C>T",
"hgvs_p": "p.Ile1045Ile",
"transcript": "NM_001441050.1",
"protein_id": "NP_001427979.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 4366,
"cds_start": 3135,
"cds_end": null,
"cds_length": 13101,
"cdna_start": 3528,
"cdna_end": null,
"cdna_length": 14707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3135C>T",
"hgvs_p": "p.Ile1045Ile",
"transcript": "NM_001441055.1",
"protein_id": "NP_001427984.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 4366,
"cds_start": 3135,
"cds_end": null,
"cds_length": 13101,
"cdna_start": 3560,
"cdna_end": null,
"cdna_length": 14739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 81,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3087C>T",
"hgvs_p": "p.Ile1029Ile",
"transcript": "ENST00000612484.4",
"protein_id": "ENSP00000479451.1",
"transcript_support_level": 5,
"aa_start": 1029,
"aa_end": null,
"aa_length": 4365,
"cds_start": 3087,
"cds_end": null,
"cds_length": 13098,
"cdna_start": 3087,
"cdna_end": null,
"cdna_length": 14311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Ile1038Ile",
"transcript": "NM_001441049.1",
"protein_id": "NP_001427978.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 4359,
"cds_start": 3114,
"cds_end": null,
"cds_length": 13080,
"cdna_start": 3507,
"cdna_end": null,
"cdna_length": 14686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Ile1038Ile",
"transcript": "NM_001441054.1",
"protein_id": "NP_001427983.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 4359,
"cds_start": 3114,
"cds_end": null,
"cds_length": 13080,
"cdna_start": 3539,
"cdna_end": null,
"cdna_length": 14718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Ile1038Ile",
"transcript": "NM_001441048.1",
"protein_id": "NP_001427977.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 4358,
"cds_start": 3114,
"cds_end": null,
"cds_length": 13077,
"cdna_start": 3507,
"cdna_end": null,
"cdna_length": 14683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Ile1038Ile",
"transcript": "NM_001441053.1",
"protein_id": "NP_001427982.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 4358,
"cds_start": 3114,
"cds_end": null,
"cds_length": 13077,
"cdna_start": 3539,
"cdna_end": null,
"cdna_length": 14715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Ile1038Ile",
"transcript": "NM_001441058.1",
"protein_id": "NP_001427987.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 4358,
"cds_start": 3114,
"cds_end": null,
"cds_length": 13077,
"cdna_start": 3404,
"cdna_end": null,
"cdna_length": 14580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Ile1038Ile",
"transcript": "ENST00000704099.1",
"protein_id": "ENSP00000515693.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 4302,
"cds_start": 3114,
"cds_end": null,
"cds_length": 12909,
"cdna_start": 3559,
"cdna_end": null,
"cdna_length": 14522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 80,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Ile1038Ile",
"transcript": "NM_001441052.1",
"protein_id": "NP_001427981.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 4240,
"cds_start": 3114,
"cds_end": null,
"cds_length": 12723,
"cdna_start": 3539,
"cdna_end": null,
"cdna_length": 14361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3384C>T",
"hgvs_p": "p.Ile1128Ile",
"transcript": "XM_017029198.3",
"protein_id": "XP_016884687.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 4464,
"cds_start": 3384,
"cds_end": null,
"cds_length": 13395,
"cdna_start": 3809,
"cdna_end": null,
"cdna_length": 15033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3384C>T",
"hgvs_p": "p.Ile1128Ile",
"transcript": "XM_017029199.2",
"protein_id": "XP_016884688.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 4464,
"cds_start": 3384,
"cds_end": null,
"cds_length": 13395,
"cdna_start": 3777,
"cdna_end": null,
"cdna_length": 15001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3384C>T",
"hgvs_p": "p.Ile1128Ile",
"transcript": "XM_017029202.2",
"protein_id": "XP_016884691.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 4464,
"cds_start": 3384,
"cds_end": null,
"cds_length": 13395,
"cdna_start": 3881,
"cdna_end": null,
"cdna_length": 15105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3384C>T",
"hgvs_p": "p.Ile1128Ile",
"transcript": "XM_017029203.2",
"protein_id": "XP_016884692.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 4464,
"cds_start": 3384,
"cds_end": null,
"cds_length": 13395,
"cdna_start": 3674,
"cdna_end": null,
"cdna_length": 14898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3384C>T",
"hgvs_p": "p.Ile1128Ile",
"transcript": "XM_047441711.1",
"protein_id": "XP_047297667.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 4464,
"cds_start": 3384,
"cds_end": null,
"cds_length": 13395,
"cdna_start": 3703,
"cdna_end": null,
"cdna_length": 14927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3384C>T",
"hgvs_p": "p.Ile1128Ile",
"transcript": "XM_047441712.1",
"protein_id": "XP_047297668.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 4463,
"cds_start": 3384,
"cds_end": null,
"cds_length": 13392,
"cdna_start": 3809,
"cdna_end": null,
"cdna_length": 15030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3363C>T",
"hgvs_p": "p.Ile1121Ile",
"transcript": "XM_011530747.2",
"protein_id": "XP_011529049.1",
"transcript_support_level": null,
"aa_start": 1121,
"aa_end": null,
"aa_length": 4457,
"cds_start": 3363,
"cds_end": null,
"cds_length": 13374,
"cdna_start": 3756,
"cdna_end": null,
"cdna_length": 14980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3363C>T",
"hgvs_p": "p.Ile1121Ile",
"transcript": "XM_011530751.3",
"protein_id": "XP_011529053.1",
"transcript_support_level": null,
"aa_start": 1121,
"aa_end": null,
"aa_length": 4457,
"cds_start": 3363,
"cds_end": null,
"cds_length": 13374,
"cdna_start": 3653,
"cdna_end": null,
"cdna_length": 14877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3363C>T",
"hgvs_p": "p.Ile1121Ile",
"transcript": "XM_047441713.1",
"protein_id": "XP_047297669.1",
"transcript_support_level": null,
"aa_start": 1121,
"aa_end": null,
"aa_length": 4457,
"cds_start": 3363,
"cds_end": null,
"cds_length": 13374,
"cdna_start": 3860,
"cdna_end": null,
"cdna_length": 15084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3363C>T",
"hgvs_p": "p.Ile1121Ile",
"transcript": "XM_047441714.1",
"protein_id": "XP_047297670.1",
"transcript_support_level": null,
"aa_start": 1121,
"aa_end": null,
"aa_length": 4457,
"cds_start": 3363,
"cds_end": null,
"cds_length": 13374,
"cdna_start": 3788,
"cdna_end": null,
"cdna_length": 15012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3363C>T",
"hgvs_p": "p.Ile1121Ile",
"transcript": "XM_047441715.1",
"protein_id": "XP_047297671.1",
"transcript_support_level": null,
"aa_start": 1121,
"aa_end": null,
"aa_length": 4457,
"cds_start": 3363,
"cds_end": null,
"cds_length": 13374,
"cdna_start": 3682,
"cdna_end": null,
"cdna_length": 14906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3363C>T",
"hgvs_p": "p.Ile1121Ile",
"transcript": "XM_047441716.1",
"protein_id": "XP_047297672.1",
"transcript_support_level": null,
"aa_start": 1121,
"aa_end": null,
"aa_length": 4457,
"cds_start": 3363,
"cds_end": null,
"cds_length": 13374,
"cdna_start": 10969,
"cdna_end": null,
"cdna_length": 22193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3384C>T",
"hgvs_p": "p.Ile1128Ile",
"transcript": "XM_047441717.1",
"protein_id": "XP_047297673.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 4449,
"cds_start": 3384,
"cds_end": null,
"cds_length": 13350,
"cdna_start": 3809,
"cdna_end": null,
"cdna_length": 14988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3384C>T",
"hgvs_p": "p.Ile1128Ile",
"transcript": "XM_047441718.1",
"protein_id": "XP_047297674.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 4448,
"cds_start": 3384,
"cds_end": null,
"cds_length": 13347,
"cdna_start": 3809,
"cdna_end": null,
"cdna_length": 14985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3384C>T",
"hgvs_p": "p.Ile1128Ile",
"transcript": "XM_047441719.1",
"protein_id": "XP_047297675.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 4448,
"cds_start": 3384,
"cds_end": null,
"cds_length": 13347,
"cdna_start": 3809,
"cdna_end": null,
"cdna_length": 14985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3384C>T",
"hgvs_p": "p.Ile1128Ile",
"transcript": "XM_047441720.1",
"protein_id": "XP_047297676.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 4447,
"cds_start": 3384,
"cds_end": null,
"cds_length": 13344,
"cdna_start": 3809,
"cdna_end": null,
"cdna_length": 14982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3384C>T",
"hgvs_p": "p.Ile1128Ile",
"transcript": "XM_047441721.1",
"protein_id": "XP_047297677.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 4433,
"cds_start": 3384,
"cds_end": null,
"cds_length": 13302,
"cdna_start": 3809,
"cdna_end": null,
"cdna_length": 14940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3384C>T",
"hgvs_p": "p.Ile1128Ile",
"transcript": "XM_047441722.1",
"protein_id": "XP_047297678.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 4432,
"cds_start": 3384,
"cds_end": null,
"cds_length": 13299,
"cdna_start": 3809,
"cdna_end": null,
"cdna_length": 14937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3384C>T",
"hgvs_p": "p.Ile1128Ile",
"transcript": "XM_047441723.1",
"protein_id": "XP_047297679.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 4431,
"cds_start": 3384,
"cds_end": null,
"cds_length": 13296,
"cdna_start": 3809,
"cdna_end": null,
"cdna_length": 14934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3384C>T",
"hgvs_p": "p.Ile1128Ile",
"transcript": "XM_047441724.1",
"protein_id": "XP_047297680.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 4430,
"cds_start": 3384,
"cds_end": null,
"cds_length": 13293,
"cdna_start": 3809,
"cdna_end": null,
"cdna_length": 14931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3384C>T",
"hgvs_p": "p.Ile1128Ile",
"transcript": "XM_047441725.1",
"protein_id": "XP_047297681.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 4416,
"cds_start": 3384,
"cds_end": null,
"cds_length": 13251,
"cdna_start": 3809,
"cdna_end": null,
"cdna_length": 14889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3384C>T",
"hgvs_p": "p.Ile1128Ile",
"transcript": "XM_047441726.1",
"protein_id": "XP_047297682.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 4415,
"cds_start": 3384,
"cds_end": null,
"cds_length": 13248,
"cdna_start": 3809,
"cdna_end": null,
"cdna_length": 14886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3384C>T",
"hgvs_p": "p.Ile1128Ile",
"transcript": "XM_047441727.1",
"protein_id": "XP_047297683.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 4415,
"cds_start": 3384,
"cds_end": null,
"cds_length": 13248,
"cdna_start": 3809,
"cdna_end": null,
"cdna_length": 14886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3135C>T",
"hgvs_p": "p.Ile1045Ile",
"transcript": "XM_047441728.1",
"protein_id": "XP_047297684.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 4381,
"cds_start": 3135,
"cds_end": null,
"cds_length": 13146,
"cdna_start": 3560,
"cdna_end": null,
"cdna_length": 14784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3135C>T",
"hgvs_p": "p.Ile1045Ile",
"transcript": "XM_047441729.1",
"protein_id": "XP_047297685.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 4381,
"cds_start": 3135,
"cds_end": null,
"cds_length": 13146,
"cdna_start": 3528,
"cdna_end": null,
"cdna_length": 14752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3135C>T",
"hgvs_p": "p.Ile1045Ile",
"transcript": "XM_047441730.1",
"protein_id": "XP_047297686.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 4381,
"cds_start": 3135,
"cds_end": null,
"cds_length": 13146,
"cdna_start": 3632,
"cdna_end": null,
"cdna_length": 14856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Ile1038Ile",
"transcript": "XM_005261965.5",
"protein_id": "XP_005262022.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 4374,
"cds_start": 3114,
"cds_end": null,
"cds_length": 13125,
"cdna_start": 3539,
"cdna_end": null,
"cdna_length": 14763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Ile1038Ile",
"transcript": "XM_047441732.1",
"protein_id": "XP_047297688.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 4374,
"cds_start": 3114,
"cds_end": null,
"cds_length": 13125,
"cdna_start": 3611,
"cdna_end": null,
"cdna_length": 14835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Ile1038Ile",
"transcript": "XM_047441733.1",
"protein_id": "XP_047297689.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 4374,
"cds_start": 3114,
"cds_end": null,
"cds_length": 13125,
"cdna_start": 3433,
"cdna_end": null,
"cdna_length": 14657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Ile1038Ile",
"transcript": "XM_047441736.1",
"protein_id": "XP_047297692.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 4373,
"cds_start": 3114,
"cds_end": null,
"cds_length": 13122,
"cdna_start": 3611,
"cdna_end": null,
"cdna_length": 14832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Ile1038Ile",
"transcript": "XM_047441737.1",
"protein_id": "XP_047297693.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 4373,
"cds_start": 3114,
"cds_end": null,
"cds_length": 13122,
"cdna_start": 3404,
"cdna_end": null,
"cdna_length": 14625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Ile1038Ile",
"transcript": "XM_047441742.1",
"protein_id": "XP_047297698.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 4359,
"cds_start": 3114,
"cds_end": null,
"cds_length": 13080,
"cdna_start": 3611,
"cdna_end": null,
"cdna_length": 14790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 81,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3384C>T",
"hgvs_p": "p.Ile1128Ile",
"transcript": "XM_047441746.1",
"protein_id": "XP_047297702.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 4330,
"cds_start": 3384,
"cds_end": null,
"cds_length": 12993,
"cdna_start": 3809,
"cdna_end": null,
"cdna_length": 14631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 81,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3384C>T",
"hgvs_p": "p.Ile1128Ile",
"transcript": "XM_047441747.1",
"protein_id": "XP_047297703.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 4329,
"cds_start": 3384,
"cds_end": null,
"cds_length": 12990,
"cdna_start": 3809,
"cdna_end": null,
"cdna_length": 14628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 81,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3384C>T",
"hgvs_p": "p.Ile1128Ile",
"transcript": "XM_047441748.1",
"protein_id": "XP_047297704.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 4315,
"cds_start": 3384,
"cds_end": null,
"cds_length": 12948,
"cdna_start": 3809,
"cdna_end": null,
"cdna_length": 14586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 81,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3384C>T",
"hgvs_p": "p.Ile1128Ile",
"transcript": "XM_047441749.1",
"protein_id": "XP_047297705.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 4314,
"cds_start": 3384,
"cds_end": null,
"cds_length": 12945,
"cdna_start": 3809,
"cdna_end": null,
"cdna_length": 14583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 81,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Ile1038Ile",
"transcript": "XM_047441751.1",
"protein_id": "XP_047297707.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 4240,
"cds_start": 3114,
"cds_end": null,
"cds_length": 12723,
"cdna_start": 3507,
"cdna_end": null,
"cdna_length": 14329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 80,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Ile1038Ile",
"transcript": "XM_047441752.1",
"protein_id": "XP_047297708.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 4224,
"cds_start": 3114,
"cds_end": null,
"cds_length": 12675,
"cdna_start": 3539,
"cdna_end": null,
"cdna_length": 14313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "n.3516C>T",
"hgvs_p": null,
"transcript": "ENST00000218328.12",
"protein_id": null,
"transcript_support_level": 5,
"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": 5488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"dbsnp": "rs781848587",
"frequency_reference_population": 0.00021734585,
"hom_count_reference_population": 66,
"allele_count_reference_population": 263,
"gnomad_exomes_af": 0.00023229,
"gnomad_genomes_af": 0.0000712473,
"gnomad_exomes_ac": 255,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01600000075995922,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.016,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.213,
"phylop100way_prediction": "Benign",
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000262854.11",
"gene_symbol": "HUWE1",
"hgnc_id": 30892,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.3114C>T",
"hgvs_p": "p.Ile1038Ile"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:1",
"phenotype_combined": "not provided|not specified|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}