← 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-53534149-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=53534149&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HUWE1",
"hgnc_id": 30892,
"hgvs_c": "c.12880G>A",
"hgvs_p": "p.Ala4294Thr",
"inheritance_mode": "XL,AD",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_031407.7",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PP3",
"acmg_score": 5,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.961,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.04,
"chr": "X",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7947920560836792,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4374,
"aa_ref": "A",
"aa_start": 4294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14731,
"cdna_start": 13273,
"cds_end": null,
"cds_length": 13125,
"cds_start": 12880,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 83,
"exon_rank_end": null,
"feature": "NM_031407.7",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12880G>A",
"hgvs_p": "p.Ala4294Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262854.11",
"protein_coding": true,
"protein_id": "NP_113584.3",
"strand": false,
"transcript": "NM_031407.7",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4374,
"aa_ref": "A",
"aa_start": 4294,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 14731,
"cdna_start": 13273,
"cds_end": null,
"cds_length": 13125,
"cds_start": 12880,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 83,
"exon_rank_end": null,
"feature": "ENST00000262854.11",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12880G>A",
"hgvs_p": "p.Ala4294Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_031407.7",
"protein_coding": true,
"protein_id": "ENSP00000262854.6",
"strand": false,
"transcript": "ENST00000262854.11",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4374,
"aa_ref": "A",
"aa_start": 4294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14628,
"cdna_start": 13170,
"cds_end": null,
"cds_length": 13125,
"cds_start": 12880,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 82,
"exon_rank_end": null,
"feature": "NM_001441057.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12880G>A",
"hgvs_p": "p.Ala4294Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427986.1",
"strand": false,
"transcript": "NM_001441057.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4374,
"aa_ref": "A",
"aa_start": 4294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14796,
"cdna_start": 13338,
"cds_end": null,
"cds_length": 13125,
"cds_start": 12880,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 82,
"exon_rank_end": null,
"feature": "ENST00000342160.7",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12880G>A",
"hgvs_p": "p.Ala4294Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340648.3",
"strand": false,
"transcript": "ENST00000342160.7",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4373,
"aa_ref": "A",
"aa_start": 4293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14728,
"cdna_start": 13270,
"cds_end": null,
"cds_length": 13122,
"cds_start": 12877,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 83,
"exon_rank_end": null,
"feature": "NM_001441051.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12877G>A",
"hgvs_p": "p.Ala4293Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427980.1",
"strand": false,
"transcript": "NM_001441051.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4373,
"aa_ref": "A",
"aa_start": 4293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14760,
"cdna_start": 13302,
"cds_end": null,
"cds_length": 13122,
"cds_start": 12877,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 82,
"exon_rank_end": null,
"feature": "NM_001441056.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12877G>A",
"hgvs_p": "p.Ala4293Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427985.1",
"strand": false,
"transcript": "NM_001441056.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4366,
"aa_ref": "A",
"aa_start": 4286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14707,
"cdna_start": 13249,
"cds_end": null,
"cds_length": 13101,
"cds_start": 12856,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 83,
"exon_rank_end": null,
"feature": "NM_001441050.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12856G>A",
"hgvs_p": "p.Ala4286Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427979.1",
"strand": false,
"transcript": "NM_001441050.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4366,
"aa_ref": "A",
"aa_start": 4286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14739,
"cdna_start": 13281,
"cds_end": null,
"cds_length": 13101,
"cds_start": 12856,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 82,
"exon_rank_end": null,
"feature": "NM_001441055.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12856G>A",
"hgvs_p": "p.Ala4286Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427984.1",
"strand": false,
"transcript": "NM_001441055.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4365,
"aa_ref": "A",
"aa_start": 4285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14311,
"cdna_start": 12853,
"cds_end": null,
"cds_length": 13098,
"cds_start": 12853,
"consequences": [
"missense_variant"
],
"exon_count": 81,
"exon_rank": 80,
"exon_rank_end": null,
"feature": "ENST00000612484.4",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12853G>A",
"hgvs_p": "p.Ala4285Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479451.1",
"strand": false,
"transcript": "ENST00000612484.4",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4359,
"aa_ref": "A",
"aa_start": 4279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14686,
"cdna_start": 13228,
"cds_end": null,
"cds_length": 13080,
"cds_start": 12835,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 83,
"exon_rank_end": null,
"feature": "NM_001441049.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12835G>A",
"hgvs_p": "p.Ala4279Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427978.1",
"strand": false,
"transcript": "NM_001441049.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4359,
"aa_ref": "A",
"aa_start": 4279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14718,
"cdna_start": 13260,
"cds_end": null,
"cds_length": 13080,
"cds_start": 12835,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 82,
"exon_rank_end": null,
"feature": "NM_001441054.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12835G>A",
"hgvs_p": "p.Ala4279Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427983.1",
"strand": false,
"transcript": "NM_001441054.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4358,
"aa_ref": "A",
"aa_start": 4278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14683,
"cdna_start": 13225,
"cds_end": null,
"cds_length": 13077,
"cds_start": 12832,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 83,
"exon_rank_end": null,
"feature": "NM_001441048.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12832G>A",
"hgvs_p": "p.Ala4278Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427977.1",
"strand": false,
"transcript": "NM_001441048.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4358,
"aa_ref": "A",
"aa_start": 4278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14715,
"cdna_start": 13257,
"cds_end": null,
"cds_length": 13077,
"cds_start": 12832,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 82,
"exon_rank_end": null,
"feature": "NM_001441053.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12832G>A",
"hgvs_p": "p.Ala4278Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427982.1",
"strand": false,
"transcript": "NM_001441053.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4358,
"aa_ref": "A",
"aa_start": 4278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14580,
"cdna_start": 13122,
"cds_end": null,
"cds_length": 13077,
"cds_start": 12832,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 82,
"exon_rank_end": null,
"feature": "NM_001441058.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12832G>A",
"hgvs_p": "p.Ala4278Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427987.1",
"strand": false,
"transcript": "NM_001441058.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4357,
"aa_ref": "A",
"aa_start": 4277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13593,
"cdna_start": 13233,
"cds_end": null,
"cds_length": 13074,
"cds_start": 12829,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 82,
"exon_rank_end": null,
"feature": "ENST00000913494.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12829G>A",
"hgvs_p": "p.Ala4277Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583553.1",
"strand": false,
"transcript": "ENST00000913494.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4302,
"aa_ref": "A",
"aa_start": 4222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14522,
"cdna_start": 13109,
"cds_end": null,
"cds_length": 12909,
"cds_start": 12664,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 82,
"exon_rank_end": null,
"feature": "ENST00000704099.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12664G>A",
"hgvs_p": "p.Ala4222Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515693.1",
"strand": false,
"transcript": "ENST00000704099.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4240,
"aa_ref": "A",
"aa_start": 4160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14361,
"cdna_start": 12903,
"cds_end": null,
"cds_length": 12723,
"cds_start": 12478,
"consequences": [
"missense_variant"
],
"exon_count": 80,
"exon_rank": 79,
"exon_rank_end": null,
"feature": "NM_001441052.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12478G>A",
"hgvs_p": "p.Ala4160Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427981.1",
"strand": false,
"transcript": "NM_001441052.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4240,
"aa_ref": "A",
"aa_start": 4160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13679,
"cdna_start": 12918,
"cds_end": null,
"cds_length": 12723,
"cds_start": 12478,
"consequences": [
"missense_variant"
],
"exon_count": 80,
"exon_rank": 79,
"exon_rank_end": null,
"feature": "ENST00000913493.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12478G>A",
"hgvs_p": "p.Ala4160Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583552.1",
"strand": false,
"transcript": "ENST00000913493.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1196,
"aa_ref": "A",
"aa_start": 1116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4805,
"cdna_start": 3347,
"cds_end": null,
"cds_length": 3591,
"cds_start": 3346,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000426907.5",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.3346G>A",
"hgvs_p": "p.Ala1116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403236.1",
"strand": false,
"transcript": "ENST00000426907.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4464,
"aa_ref": "A",
"aa_start": 4384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15033,
"cdna_start": 13575,
"cds_end": null,
"cds_length": 13395,
"cds_start": 13150,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 83,
"exon_rank_end": null,
"feature": "XM_017029198.3",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.13150G>A",
"hgvs_p": "p.Ala4384Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884687.1",
"strand": false,
"transcript": "XM_017029198.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4464,
"aa_ref": "A",
"aa_start": 4384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15001,
"cdna_start": 13543,
"cds_end": null,
"cds_length": 13395,
"cds_start": 13150,
"consequences": [
"missense_variant"
],
"exon_count": 85,
"exon_rank": 84,
"exon_rank_end": null,
"feature": "XM_017029199.2",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.13150G>A",
"hgvs_p": "p.Ala4384Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884688.1",
"strand": false,
"transcript": "XM_017029199.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4464,
"aa_ref": "A",
"aa_start": 4384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15105,
"cdna_start": 13647,
"cds_end": null,
"cds_length": 13395,
"cds_start": 13150,
"consequences": [
"missense_variant"
],
"exon_count": 85,
"exon_rank": 84,
"exon_rank_end": null,
"feature": "XM_017029202.2",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.13150G>A",
"hgvs_p": "p.Ala4384Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884691.1",
"strand": false,
"transcript": "XM_017029202.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4464,
"aa_ref": "A",
"aa_start": 4384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14898,
"cdna_start": 13440,
"cds_end": null,
"cds_length": 13395,
"cds_start": 13150,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 83,
"exon_rank_end": null,
"feature": "XM_017029203.2",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.13150G>A",
"hgvs_p": "p.Ala4384Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884692.1",
"strand": false,
"transcript": "XM_017029203.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4464,
"aa_ref": "A",
"aa_start": 4384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14927,
"cdna_start": 13469,
"cds_end": null,
"cds_length": 13395,
"cds_start": 13150,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 83,
"exon_rank_end": null,
"feature": "XM_047441711.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.13150G>A",
"hgvs_p": "p.Ala4384Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297667.1",
"strand": false,
"transcript": "XM_047441711.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4463,
"aa_ref": "A",
"aa_start": 4383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15030,
"cdna_start": 13572,
"cds_end": null,
"cds_length": 13392,
"cds_start": 13147,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 83,
"exon_rank_end": null,
"feature": "XM_047441712.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.13147G>A",
"hgvs_p": "p.Ala4383Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297668.1",
"strand": false,
"transcript": "XM_047441712.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4457,
"aa_ref": "A",
"aa_start": 4377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14980,
"cdna_start": 13522,
"cds_end": null,
"cds_length": 13374,
"cds_start": 13129,
"consequences": [
"missense_variant"
],
"exon_count": 85,
"exon_rank": 84,
"exon_rank_end": null,
"feature": "XM_011530747.2",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.13129G>A",
"hgvs_p": "p.Ala4377Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529049.1",
"strand": false,
"transcript": "XM_011530747.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4457,
"aa_ref": "A",
"aa_start": 4377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14877,
"cdna_start": 13419,
"cds_end": null,
"cds_length": 13374,
"cds_start": 13129,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 83,
"exon_rank_end": null,
"feature": "XM_011530751.3",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.13129G>A",
"hgvs_p": "p.Ala4377Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529053.1",
"strand": false,
"transcript": "XM_011530751.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4457,
"aa_ref": "A",
"aa_start": 4377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15084,
"cdna_start": 13626,
"cds_end": null,
"cds_length": 13374,
"cds_start": 13129,
"consequences": [
"missense_variant"
],
"exon_count": 85,
"exon_rank": 84,
"exon_rank_end": null,
"feature": "XM_047441713.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.13129G>A",
"hgvs_p": "p.Ala4377Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297669.1",
"strand": false,
"transcript": "XM_047441713.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4457,
"aa_ref": "A",
"aa_start": 4377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15012,
"cdna_start": 13554,
"cds_end": null,
"cds_length": 13374,
"cds_start": 13129,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 83,
"exon_rank_end": null,
"feature": "XM_047441714.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.13129G>A",
"hgvs_p": "p.Ala4377Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297670.1",
"strand": false,
"transcript": "XM_047441714.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4457,
"aa_ref": "A",
"aa_start": 4377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14906,
"cdna_start": 13448,
"cds_end": null,
"cds_length": 13374,
"cds_start": 13129,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 83,
"exon_rank_end": null,
"feature": "XM_047441715.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.13129G>A",
"hgvs_p": "p.Ala4377Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297671.1",
"strand": false,
"transcript": "XM_047441715.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4457,
"aa_ref": "A",
"aa_start": 4377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 22193,
"cdna_start": 20735,
"cds_end": null,
"cds_length": 13374,
"cds_start": 13129,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 82,
"exon_rank_end": null,
"feature": "XM_047441716.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.13129G>A",
"hgvs_p": "p.Ala4377Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297672.1",
"strand": false,
"transcript": "XM_047441716.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4449,
"aa_ref": "A",
"aa_start": 4369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14988,
"cdna_start": 13530,
"cds_end": null,
"cds_length": 13350,
"cds_start": 13105,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 83,
"exon_rank_end": null,
"feature": "XM_047441717.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.13105G>A",
"hgvs_p": "p.Ala4369Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297673.1",
"strand": false,
"transcript": "XM_047441717.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4448,
"aa_ref": "A",
"aa_start": 4368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14985,
"cdna_start": 13527,
"cds_end": null,
"cds_length": 13347,
"cds_start": 13102,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 83,
"exon_rank_end": null,
"feature": "XM_047441718.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.13102G>A",
"hgvs_p": "p.Ala4368Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297674.1",
"strand": false,
"transcript": "XM_047441718.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4448,
"aa_ref": "A",
"aa_start": 4368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14985,
"cdna_start": 13527,
"cds_end": null,
"cds_length": 13347,
"cds_start": 13102,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 83,
"exon_rank_end": null,
"feature": "XM_047441719.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.13102G>A",
"hgvs_p": "p.Ala4368Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297675.1",
"strand": false,
"transcript": "XM_047441719.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4447,
"aa_ref": "A",
"aa_start": 4367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14982,
"cdna_start": 13524,
"cds_end": null,
"cds_length": 13344,
"cds_start": 13099,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 83,
"exon_rank_end": null,
"feature": "XM_047441720.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.13099G>A",
"hgvs_p": "p.Ala4367Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297676.1",
"strand": false,
"transcript": "XM_047441720.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4433,
"aa_ref": "A",
"aa_start": 4353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14940,
"cdna_start": 13482,
"cds_end": null,
"cds_length": 13302,
"cds_start": 13057,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 83,
"exon_rank_end": null,
"feature": "XM_047441721.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.13057G>A",
"hgvs_p": "p.Ala4353Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297677.1",
"strand": false,
"transcript": "XM_047441721.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4432,
"aa_ref": "A",
"aa_start": 4352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14937,
"cdna_start": 13479,
"cds_end": null,
"cds_length": 13299,
"cds_start": 13054,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 83,
"exon_rank_end": null,
"feature": "XM_047441722.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.13054G>A",
"hgvs_p": "p.Ala4352Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297678.1",
"strand": false,
"transcript": "XM_047441722.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4431,
"aa_ref": "A",
"aa_start": 4351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14934,
"cdna_start": 13476,
"cds_end": null,
"cds_length": 13296,
"cds_start": 13051,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 82,
"exon_rank_end": null,
"feature": "XM_047441723.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.13051G>A",
"hgvs_p": "p.Ala4351Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297679.1",
"strand": false,
"transcript": "XM_047441723.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4430,
"aa_ref": "A",
"aa_start": 4350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14931,
"cdna_start": 13473,
"cds_end": null,
"cds_length": 13293,
"cds_start": 13048,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 82,
"exon_rank_end": null,
"feature": "XM_047441724.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.13048G>A",
"hgvs_p": "p.Ala4350Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297680.1",
"strand": false,
"transcript": "XM_047441724.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4416,
"aa_ref": "A",
"aa_start": 4336,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14889,
"cdna_start": 13431,
"cds_end": null,
"cds_length": 13251,
"cds_start": 13006,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 82,
"exon_rank_end": null,
"feature": "XM_047441725.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.13006G>A",
"hgvs_p": "p.Ala4336Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297681.1",
"strand": false,
"transcript": "XM_047441725.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4415,
"aa_ref": "A",
"aa_start": 4335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14886,
"cdna_start": 13428,
"cds_end": null,
"cds_length": 13248,
"cds_start": 13003,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 82,
"exon_rank_end": null,
"feature": "XM_047441726.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.13003G>A",
"hgvs_p": "p.Ala4335Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297682.1",
"strand": false,
"transcript": "XM_047441726.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4415,
"aa_ref": "A",
"aa_start": 4335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14886,
"cdna_start": 13428,
"cds_end": null,
"cds_length": 13248,
"cds_start": 13003,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 82,
"exon_rank_end": null,
"feature": "XM_047441727.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.13003G>A",
"hgvs_p": "p.Ala4335Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297683.1",
"strand": false,
"transcript": "XM_047441727.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4381,
"aa_ref": "A",
"aa_start": 4301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14784,
"cdna_start": 13326,
"cds_end": null,
"cds_length": 13146,
"cds_start": 12901,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 82,
"exon_rank_end": null,
"feature": "XM_047441728.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12901G>A",
"hgvs_p": "p.Ala4301Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297684.1",
"strand": false,
"transcript": "XM_047441728.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4381,
"aa_ref": "A",
"aa_start": 4301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14752,
"cdna_start": 13294,
"cds_end": null,
"cds_length": 13146,
"cds_start": 12901,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 83,
"exon_rank_end": null,
"feature": "XM_047441729.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12901G>A",
"hgvs_p": "p.Ala4301Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297685.1",
"strand": false,
"transcript": "XM_047441729.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4381,
"aa_ref": "A",
"aa_start": 4301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14856,
"cdna_start": 13398,
"cds_end": null,
"cds_length": 13146,
"cds_start": 12901,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 83,
"exon_rank_end": null,
"feature": "XM_047441730.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12901G>A",
"hgvs_p": "p.Ala4301Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297686.1",
"strand": false,
"transcript": "XM_047441730.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4374,
"aa_ref": "A",
"aa_start": 4294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14763,
"cdna_start": 13305,
"cds_end": null,
"cds_length": 13125,
"cds_start": 12880,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 82,
"exon_rank_end": null,
"feature": "XM_005261965.5",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12880G>A",
"hgvs_p": "p.Ala4294Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005262022.1",
"strand": false,
"transcript": "XM_005261965.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4374,
"aa_ref": "A",
"aa_start": 4294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14835,
"cdna_start": 13377,
"cds_end": null,
"cds_length": 13125,
"cds_start": 12880,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 83,
"exon_rank_end": null,
"feature": "XM_047441732.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12880G>A",
"hgvs_p": "p.Ala4294Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297688.1",
"strand": false,
"transcript": "XM_047441732.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4374,
"aa_ref": "A",
"aa_start": 4294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14657,
"cdna_start": 13199,
"cds_end": null,
"cds_length": 13125,
"cds_start": 12880,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 82,
"exon_rank_end": null,
"feature": "XM_047441733.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12880G>A",
"hgvs_p": "p.Ala4294Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297689.1",
"strand": false,
"transcript": "XM_047441733.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4373,
"aa_ref": "A",
"aa_start": 4293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14832,
"cdna_start": 13374,
"cds_end": null,
"cds_length": 13122,
"cds_start": 12877,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 83,
"exon_rank_end": null,
"feature": "XM_047441736.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12877G>A",
"hgvs_p": "p.Ala4293Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297692.1",
"strand": false,
"transcript": "XM_047441736.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4373,
"aa_ref": "A",
"aa_start": 4293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14625,
"cdna_start": 13167,
"cds_end": null,
"cds_length": 13122,
"cds_start": 12877,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 82,
"exon_rank_end": null,
"feature": "XM_047441737.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12877G>A",
"hgvs_p": "p.Ala4293Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297693.1",
"strand": false,
"transcript": "XM_047441737.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4359,
"aa_ref": "A",
"aa_start": 4279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14790,
"cdna_start": 13332,
"cds_end": null,
"cds_length": 13080,
"cds_start": 12835,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 83,
"exon_rank_end": null,
"feature": "XM_047441742.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12835G>A",
"hgvs_p": "p.Ala4279Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297698.1",
"strand": false,
"transcript": "XM_047441742.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4330,
"aa_ref": "A",
"aa_start": 4250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14631,
"cdna_start": 13173,
"cds_end": null,
"cds_length": 12993,
"cds_start": 12748,
"consequences": [
"missense_variant"
],
"exon_count": 81,
"exon_rank": 80,
"exon_rank_end": null,
"feature": "XM_047441746.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12748G>A",
"hgvs_p": "p.Ala4250Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297702.1",
"strand": false,
"transcript": "XM_047441746.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4329,
"aa_ref": "A",
"aa_start": 4249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14628,
"cdna_start": 13170,
"cds_end": null,
"cds_length": 12990,
"cds_start": 12745,
"consequences": [
"missense_variant"
],
"exon_count": 81,
"exon_rank": 80,
"exon_rank_end": null,
"feature": "XM_047441747.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12745G>A",
"hgvs_p": "p.Ala4249Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297703.1",
"strand": false,
"transcript": "XM_047441747.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4315,
"aa_ref": "A",
"aa_start": 4235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14586,
"cdna_start": 13128,
"cds_end": null,
"cds_length": 12948,
"cds_start": 12703,
"consequences": [
"missense_variant"
],
"exon_count": 81,
"exon_rank": 80,
"exon_rank_end": null,
"feature": "XM_047441748.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12703G>A",
"hgvs_p": "p.Ala4235Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297704.1",
"strand": false,
"transcript": "XM_047441748.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4314,
"aa_ref": "A",
"aa_start": 4234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14583,
"cdna_start": 13125,
"cds_end": null,
"cds_length": 12945,
"cds_start": 12700,
"consequences": [
"missense_variant"
],
"exon_count": 81,
"exon_rank": 80,
"exon_rank_end": null,
"feature": "XM_047441749.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12700G>A",
"hgvs_p": "p.Ala4234Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297705.1",
"strand": false,
"transcript": "XM_047441749.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4240,
"aa_ref": "A",
"aa_start": 4160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14329,
"cdna_start": 12871,
"cds_end": null,
"cds_length": 12723,
"cds_start": 12478,
"consequences": [
"missense_variant"
],
"exon_count": 81,
"exon_rank": 80,
"exon_rank_end": null,
"feature": "XM_047441751.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12478G>A",
"hgvs_p": "p.Ala4160Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297707.1",
"strand": false,
"transcript": "XM_047441751.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 4224,
"aa_ref": "A",
"aa_start": 4144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14313,
"cdna_start": 12855,
"cds_end": null,
"cds_length": 12675,
"cds_start": 12430,
"consequences": [
"missense_variant"
],
"exon_count": 80,
"exon_rank": 79,
"exon_rank_end": null,
"feature": "XM_047441752.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.12430G>A",
"hgvs_p": "p.Ala4144Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297708.1",
"strand": false,
"transcript": "XM_047441752.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 800,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000488459.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "n.193G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000488459.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1556909408",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Inborn genetic diseases",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.055,
"pos": 53534149,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.48,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_031407.7"
}
]
}