← 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: 12-95533182-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=95533182&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 95533182,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032147.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "NM_032147.5",
"protein_id": "NP_115523.2",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000258499.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032147.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000258499.8",
"protein_id": "ENSP00000258499.3",
"transcript_support_level": 1,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032147.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258499.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000393091.6",
"protein_id": "ENSP00000376806.2",
"transcript_support_level": 1,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393091.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000537435.2",
"protein_id": "ENSP00000442629.2",
"transcript_support_level": 1,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537435.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916592.1",
"protein_id": "ENSP00000586651.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 807,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916592.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916615.1",
"protein_id": "ENSP00000586674.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 807,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916615.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916591.1",
"protein_id": "ENSP00000586650.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 782,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916591.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916605.1",
"protein_id": "ENSP00000586664.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 782,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916605.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916595.1",
"protein_id": "ENSP00000586654.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 743,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916595.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916602.1",
"protein_id": "ENSP00000586661.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 743,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916602.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916616.1",
"protein_id": "ENSP00000586675.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 743,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916616.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916618.1",
"protein_id": "ENSP00000586677.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 743,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916618.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916590.1",
"protein_id": "ENSP00000586649.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 738,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916590.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916606.1",
"protein_id": "ENSP00000586665.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 738,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916606.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "NM_001042403.3",
"protein_id": "NP_001035862.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042403.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "NM_001278393.2",
"protein_id": "NP_001265322.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278393.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "NM_001347936.2",
"protein_id": "NP_001334865.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347936.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "NM_001347937.2",
"protein_id": "NP_001334866.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347937.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000876803.1",
"protein_id": "ENSP00000546862.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876803.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916587.1",
"protein_id": "ENSP00000586646.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916587.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916588.1",
"protein_id": "ENSP00000586647.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916588.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916589.1",
"protein_id": "ENSP00000586648.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916589.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916596.1",
"protein_id": "ENSP00000586655.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916596.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916598.1",
"protein_id": "ENSP00000586657.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916598.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916600.1",
"protein_id": "ENSP00000586659.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916600.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916601.1",
"protein_id": "ENSP00000586660.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916601.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916603.1",
"protein_id": "ENSP00000586662.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916603.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916607.1",
"protein_id": "ENSP00000586666.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916607.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916608.1",
"protein_id": "ENSP00000586667.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916608.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916609.1",
"protein_id": "ENSP00000586668.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916609.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916610.1",
"protein_id": "ENSP00000586669.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916610.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916612.1",
"protein_id": "ENSP00000586671.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916612.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916613.1",
"protein_id": "ENSP00000586672.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916613.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916614.1",
"protein_id": "ENSP00000586673.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916614.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916617.1",
"protein_id": "ENSP00000586676.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916617.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916619.1",
"protein_id": "ENSP00000586678.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916619.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916594.1",
"protein_id": "ENSP00000586653.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 643,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916594.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916620.1",
"protein_id": "ENSP00000586679.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 643,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916620.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916599.1",
"protein_id": "ENSP00000586658.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 636,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916599.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916593.1",
"protein_id": "ENSP00000586652.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 607,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916593.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000916604.1",
"protein_id": "ENSP00000586663.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 607,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916604.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "ENST00000552440.5",
"protein_id": "ENSP00000448670.1",
"transcript_support_level": 5,
"aa_start": 359,
"aa_end": null,
"aa_length": 496,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552440.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "XM_005269172.2",
"protein_id": "XP_005269229.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 743,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269172.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "XM_005269173.2",
"protein_id": "XP_005269230.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 743,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269173.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "XM_005269174.2",
"protein_id": "XP_005269231.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 743,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269174.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "XM_011538800.3",
"protein_id": "XP_011537102.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 743,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538800.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "XM_011538801.2",
"protein_id": "XP_011537103.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 743,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538801.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "XM_011538802.2",
"protein_id": "XP_011537104.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 743,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538802.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "XM_011538803.1",
"protein_id": "XP_011537105.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 743,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538803.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "XM_011538804.3",
"protein_id": "XP_011537106.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 743,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538804.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "XM_011538805.3",
"protein_id": "XP_011537107.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 743,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538805.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "XM_047429642.1",
"protein_id": "XP_047285598.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429642.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "XM_047429643.1",
"protein_id": "XP_047285599.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429643.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "XM_047429644.1",
"protein_id": "XP_047285600.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429644.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "XM_047429645.1",
"protein_id": "XP_047285601.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 712,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429645.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "XM_011538806.3",
"protein_id": "XP_011537108.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 505,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538806.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "XM_047429646.1",
"protein_id": "XP_047285602.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 496,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429646.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "XM_047429647.1",
"protein_id": "XP_047285603.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 496,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429647.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.213+862G>A",
"hgvs_p": null,
"transcript": "ENST00000916611.1",
"protein_id": "ENSP00000586670.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 338,
"cds_start": null,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916611.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.213+862G>A",
"hgvs_p": null,
"transcript": "ENST00000916597.1",
"protein_id": "ENSP00000586656.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 307,
"cds_start": null,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916597.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "n.1231G>A",
"hgvs_p": null,
"transcript": "NR_125360.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_125360.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "n.1422G>A",
"hgvs_p": null,
"transcript": "NR_144944.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_144944.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "n.1177G>A",
"hgvs_p": null,
"transcript": "NR_144945.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_144945.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "n.1177G>A",
"hgvs_p": null,
"transcript": "NR_144946.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_144946.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "n.1177G>A",
"hgvs_p": null,
"transcript": "NR_144947.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_144947.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "n.1422G>A",
"hgvs_p": null,
"transcript": "NR_144948.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_144948.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "n.1350G>A",
"hgvs_p": null,
"transcript": "XR_944757.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_944757.2"
}
],
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"dbsnp": "rs148476030",
"frequency_reference_population": 0.00012453315,
"hom_count_reference_population": 0,
"allele_count_reference_population": 201,
"gnomad_exomes_af": 0.000130655,
"gnomad_genomes_af": 0.0000657186,
"gnomad_exomes_ac": 191,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7202063798904419,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.353,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.22,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.347,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_032147.5",
"gene_symbol": "USP44",
"hgnc_id": 20064,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}