← 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: 12-95518183-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=95518183&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "USP44",
"hgnc_id": 20064,
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_032147.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.0717,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.78,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08136036992073059,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4008,
"cdna_start": 2385,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_032147.5",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000258499.8",
"protein_coding": true,
"protein_id": "NP_115523.2",
"strand": false,
"transcript": "NM_032147.5",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4008,
"cdna_start": 2385,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000258499.8",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032147.5",
"protein_coding": true,
"protein_id": "ENSP00000258499.3",
"strand": false,
"transcript": "ENST00000258499.8",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3161,
"cdna_start": 2254,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000393091.6",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376806.2",
"strand": false,
"transcript": "ENST00000393091.6",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2499,
"cdna_start": 2470,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000537435.2",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442629.2",
"strand": false,
"transcript": "ENST00000537435.2",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 807,
"aa_ref": "D",
"aa_start": 799,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4291,
"cdna_start": 2668,
"cds_end": null,
"cds_length": 2424,
"cds_start": 2395,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000916592.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2395G>A",
"hgvs_p": "p.Asp799Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586651.1",
"strand": false,
"transcript": "ENST00000916592.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 807,
"aa_ref": "D",
"aa_start": 799,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4125,
"cdna_start": 2509,
"cds_end": null,
"cds_length": 2424,
"cds_start": 2395,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000916615.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2395G>A",
"hgvs_p": "p.Asp799Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586674.1",
"strand": false,
"transcript": "ENST00000916615.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 782,
"aa_ref": "D",
"aa_start": 774,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4221,
"cdna_start": 2601,
"cds_end": null,
"cds_length": 2349,
"cds_start": 2320,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000916591.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2320G>A",
"hgvs_p": "p.Asp774Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586650.1",
"strand": false,
"transcript": "ENST00000916591.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 782,
"aa_ref": "D",
"aa_start": 774,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4063,
"cdna_start": 2440,
"cds_end": null,
"cds_length": 2349,
"cds_start": 2320,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000916605.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2320G>A",
"hgvs_p": "p.Asp774Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586664.1",
"strand": false,
"transcript": "ENST00000916605.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 743,
"aa_ref": "D",
"aa_start": 735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4082,
"cdna_start": 2459,
"cds_end": null,
"cds_length": 2232,
"cds_start": 2203,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000916595.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Asp735Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586654.1",
"strand": false,
"transcript": "ENST00000916595.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 743,
"aa_ref": "D",
"aa_start": 735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3955,
"cdna_start": 2332,
"cds_end": null,
"cds_length": 2232,
"cds_start": 2203,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000916602.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Asp735Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586661.1",
"strand": false,
"transcript": "ENST00000916602.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 743,
"aa_ref": "D",
"aa_start": 735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4232,
"cdna_start": 2611,
"cds_end": null,
"cds_length": 2232,
"cds_start": 2203,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000916616.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Asp735Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586675.1",
"strand": false,
"transcript": "ENST00000916616.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 743,
"aa_ref": "D",
"aa_start": 735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4195,
"cdna_start": 2576,
"cds_end": null,
"cds_length": 2232,
"cds_start": 2203,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000916618.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Asp735Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586677.1",
"strand": false,
"transcript": "ENST00000916618.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 738,
"aa_ref": "D",
"aa_start": 730,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4123,
"cdna_start": 2500,
"cds_end": null,
"cds_length": 2217,
"cds_start": 2188,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000916590.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2188G>A",
"hgvs_p": "p.Asp730Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586649.1",
"strand": false,
"transcript": "ENST00000916590.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 738,
"aa_ref": "D",
"aa_start": 730,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3930,
"cdna_start": 2307,
"cds_end": null,
"cds_length": 2217,
"cds_start": 2188,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000916606.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2188G>A",
"hgvs_p": "p.Asp730Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586665.1",
"strand": false,
"transcript": "ENST00000916606.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3835,
"cdna_start": 2212,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001042403.3",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001035862.1",
"strand": false,
"transcript": "NM_001042403.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4059,
"cdna_start": 2436,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001278393.2",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265322.1",
"strand": false,
"transcript": "NM_001278393.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3889,
"cdna_start": 2266,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001347936.2",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334865.1",
"strand": false,
"transcript": "NM_001347936.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4080,
"cdna_start": 2457,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001347937.2",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334866.1",
"strand": false,
"transcript": "NM_001347937.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5466,
"cdna_start": 4373,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000876803.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546862.1",
"strand": false,
"transcript": "ENST00000876803.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4049,
"cdna_start": 2426,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000916587.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586646.1",
"strand": false,
"transcript": "ENST00000916587.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4136,
"cdna_start": 2513,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000916588.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586647.1",
"strand": false,
"transcript": "ENST00000916588.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3868,
"cdna_start": 2245,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000916589.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586648.1",
"strand": false,
"transcript": "ENST00000916589.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4363,
"cdna_start": 2740,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000916596.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586655.1",
"strand": false,
"transcript": "ENST00000916596.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4050,
"cdna_start": 2434,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000916598.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586657.1",
"strand": false,
"transcript": "ENST00000916598.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3977,
"cdna_start": 2354,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000916600.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586659.1",
"strand": false,
"transcript": "ENST00000916600.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4167,
"cdna_start": 2544,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000916601.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586660.1",
"strand": false,
"transcript": "ENST00000916601.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3903,
"cdna_start": 2280,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000916603.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586662.1",
"strand": false,
"transcript": "ENST00000916603.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4148,
"cdna_start": 2525,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000916607.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586666.1",
"strand": false,
"transcript": "ENST00000916607.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4207,
"cdna_start": 2584,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000916608.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586667.1",
"strand": false,
"transcript": "ENST00000916608.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3949,
"cdna_start": 2326,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000916609.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586668.1",
"strand": false,
"transcript": "ENST00000916609.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3962,
"cdna_start": 2339,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000916610.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586669.1",
"strand": false,
"transcript": "ENST00000916610.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4356,
"cdna_start": 2733,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000916612.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586671.1",
"strand": false,
"transcript": "ENST00000916612.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4694,
"cdna_start": 3073,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000916613.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586672.1",
"strand": false,
"transcript": "ENST00000916613.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3940,
"cdna_start": 2319,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000916614.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586673.1",
"strand": false,
"transcript": "ENST00000916614.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4057,
"cdna_start": 2436,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000916617.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586676.1",
"strand": false,
"transcript": "ENST00000916617.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3950,
"cdna_start": 2330,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000916619.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586678.1",
"strand": false,
"transcript": "ENST00000916619.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 643,
"aa_ref": "D",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3783,
"cdna_start": 2162,
"cds_end": null,
"cds_length": 1932,
"cds_start": 1903,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000916594.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.1903G>A",
"hgvs_p": "p.Asp635Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586653.1",
"strand": false,
"transcript": "ENST00000916594.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 643,
"aa_ref": "D",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3208,
"cdna_start": 2086,
"cds_end": null,
"cds_length": 1932,
"cds_start": 1903,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000916620.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.1903G>A",
"hgvs_p": "p.Asp635Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586679.1",
"strand": false,
"transcript": "ENST00000916620.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 636,
"aa_ref": "D",
"aa_start": 628,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3181,
"cdna_start": 2095,
"cds_end": null,
"cds_length": 1911,
"cds_start": 1882,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000916599.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.1882G>A",
"hgvs_p": "p.Asp628Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586658.1",
"strand": false,
"transcript": "ENST00000916599.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 607,
"aa_ref": "D",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3677,
"cdna_start": 2054,
"cds_end": null,
"cds_length": 1824,
"cds_start": 1795,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000916593.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.1795G>A",
"hgvs_p": "p.Asp599Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586652.1",
"strand": false,
"transcript": "ENST00000916593.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 607,
"aa_ref": "D",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3539,
"cdna_start": 1916,
"cds_end": null,
"cds_length": 1824,
"cds_start": 1795,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000916604.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.1795G>A",
"hgvs_p": "p.Asp599Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586663.1",
"strand": false,
"transcript": "ENST00000916604.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 338,
"aa_ref": "D",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2724,
"cdna_start": 1109,
"cds_end": null,
"cds_length": 1017,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000916611.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.988G>A",
"hgvs_p": "p.Asp330Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586670.1",
"strand": false,
"transcript": "ENST00000916611.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 307,
"aa_ref": "D",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2731,
"cdna_start": 1108,
"cds_end": null,
"cds_length": 924,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000916597.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Asp299Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586656.1",
"strand": false,
"transcript": "ENST00000916597.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 743,
"aa_ref": "D",
"aa_start": 735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4101,
"cdna_start": 2478,
"cds_end": null,
"cds_length": 2232,
"cds_start": 2203,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_005269172.2",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Asp735Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005269229.1",
"strand": false,
"transcript": "XM_005269172.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 743,
"aa_ref": "D",
"aa_start": 735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4152,
"cdna_start": 2529,
"cds_end": null,
"cds_length": 2232,
"cds_start": 2203,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_005269173.2",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Asp735Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005269230.1",
"strand": false,
"transcript": "XM_005269173.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 743,
"aa_ref": "D",
"aa_start": 735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3928,
"cdna_start": 2305,
"cds_end": null,
"cds_length": 2232,
"cds_start": 2203,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_005269174.2",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Asp735Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005269231.1",
"strand": false,
"transcript": "XM_005269174.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 743,
"aa_ref": "D",
"aa_start": 735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4155,
"cdna_start": 2532,
"cds_end": null,
"cds_length": 2232,
"cds_start": 2203,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011538800.3",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Asp735Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537102.1",
"strand": false,
"transcript": "XM_011538800.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 743,
"aa_ref": "D",
"aa_start": 735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3982,
"cdna_start": 2359,
"cds_end": null,
"cds_length": 2232,
"cds_start": 2203,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011538801.2",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Asp735Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537103.1",
"strand": false,
"transcript": "XM_011538801.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 743,
"aa_ref": "D",
"aa_start": 735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3988,
"cdna_start": 2365,
"cds_end": null,
"cds_length": 2232,
"cds_start": 2203,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011538802.2",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Asp735Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537104.1",
"strand": false,
"transcript": "XM_011538802.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 743,
"aa_ref": "D",
"aa_start": 735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3961,
"cdna_start": 2338,
"cds_end": null,
"cds_length": 2232,
"cds_start": 2203,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011538803.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Asp735Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537105.1",
"strand": false,
"transcript": "XM_011538803.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 743,
"aa_ref": "D",
"aa_start": 735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4173,
"cdna_start": 2550,
"cds_end": null,
"cds_length": 2232,
"cds_start": 2203,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011538804.3",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Asp735Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537106.1",
"strand": false,
"transcript": "XM_011538804.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 743,
"aa_ref": "D",
"aa_start": 735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4174,
"cdna_start": 2551,
"cds_end": null,
"cds_length": 2232,
"cds_start": 2203,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011538805.3",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Asp735Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537107.1",
"strand": false,
"transcript": "XM_011538805.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3895,
"cdna_start": 2272,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047429642.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285598.1",
"strand": false,
"transcript": "XM_047429642.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4062,
"cdna_start": 2439,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047429643.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285599.1",
"strand": false,
"transcript": "XM_047429643.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5105,
"cdna_start": 3482,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047429644.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285600.1",
"strand": false,
"transcript": "XM_047429644.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4020,
"cdna_start": 2397,
"cds_end": null,
"cds_length": 2139,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047429645.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Asp704Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285601.1",
"strand": false,
"transcript": "XM_047429645.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 496,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1818,
"cdna_start": null,
"cds_end": null,
"cds_length": 1491,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000552440.5",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.*217G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448670.1",
"strand": false,
"transcript": "ENST00000552440.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3693,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NR_125360.3",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "n.2070G>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": "NR_125360.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3884,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NR_144944.2",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "n.2261G>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": "NR_144944.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3726,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NR_144945.2",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "n.2103G>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": "NR_144945.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4128,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NR_144946.2",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "n.2505G>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": "NR_144946.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3530,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NR_144947.2",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "n.1907G>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": "NR_144947.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3971,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NR_144948.2",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "n.2348G>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": "NR_144948.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs367906455",
"effect": "missense_variant",
"frequency_reference_population": 6.8405535e-7,
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84055e-7,
"gnomad_exomes_homalt": 0,
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.9,
"pos": 95518183,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.043,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_032147.5"
}
]
}