← 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: 17-44207459-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44207459&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44207459,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014233.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2164G>T",
"hgvs_p": "p.Asp722Tyr",
"transcript": "NM_014233.4",
"protein_id": "NP_055048.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 764,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000436088.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014233.4"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2164G>T",
"hgvs_p": "p.Asp722Tyr",
"transcript": "ENST00000436088.6",
"protein_id": "ENSP00000390669.1",
"transcript_support_level": 2,
"aa_start": 722,
"aa_end": null,
"aa_length": 764,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014233.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436088.6"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2164G>T",
"hgvs_p": "p.Asp722Tyr",
"transcript": "ENST00000529383.5",
"protein_id": "ENSP00000435708.1",
"transcript_support_level": 1,
"aa_start": 722,
"aa_end": null,
"aa_length": 764,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529383.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2053G>T",
"hgvs_p": "p.Asp685Tyr",
"transcript": "ENST00000343638.9",
"protein_id": "ENSP00000345297.5",
"transcript_support_level": 1,
"aa_start": 685,
"aa_end": null,
"aa_length": 727,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343638.9"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2053G>T",
"hgvs_p": "p.Asp685Tyr",
"transcript": "ENST00000393606.7",
"protein_id": "ENSP00000377231.3",
"transcript_support_level": 1,
"aa_start": 685,
"aa_end": null,
"aa_length": 727,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393606.7"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2215G>T",
"hgvs_p": "p.Asp739Tyr",
"transcript": "ENST00000905776.1",
"protein_id": "ENSP00000575835.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 781,
"cds_start": 2215,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905776.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2215G>T",
"hgvs_p": "p.Asp739Tyr",
"transcript": "ENST00000905789.1",
"protein_id": "ENSP00000575848.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 781,
"cds_start": 2215,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905789.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2215G>T",
"hgvs_p": "p.Asp739Tyr",
"transcript": "ENST00000931845.1",
"protein_id": "ENSP00000601904.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 781,
"cds_start": 2215,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931845.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2215G>T",
"hgvs_p": "p.Asp739Tyr",
"transcript": "ENST00000962309.1",
"protein_id": "ENSP00000632368.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 781,
"cds_start": 2215,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962309.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2164G>T",
"hgvs_p": "p.Asp722Tyr",
"transcript": "ENST00000302904.8",
"protein_id": "ENSP00000302640.4",
"transcript_support_level": 2,
"aa_start": 722,
"aa_end": null,
"aa_length": 764,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302904.8"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2164G>T",
"hgvs_p": "p.Asp722Tyr",
"transcript": "ENST00000704741.1",
"protein_id": "ENSP00000516019.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 764,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704741.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2164G>T",
"hgvs_p": "p.Asp722Tyr",
"transcript": "ENST00000704746.1",
"protein_id": "ENSP00000516023.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 764,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704746.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2164G>T",
"hgvs_p": "p.Asp722Tyr",
"transcript": "ENST00000905780.1",
"protein_id": "ENSP00000575839.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 764,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905780.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2164G>T",
"hgvs_p": "p.Asp722Tyr",
"transcript": "ENST00000905782.1",
"protein_id": "ENSP00000575841.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 764,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905782.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2164G>T",
"hgvs_p": "p.Asp722Tyr",
"transcript": "ENST00000905794.1",
"protein_id": "ENSP00000575853.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 764,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905794.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2164G>T",
"hgvs_p": "p.Asp722Tyr",
"transcript": "ENST00000905798.1",
"protein_id": "ENSP00000575857.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 764,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905798.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2164G>T",
"hgvs_p": "p.Asp722Tyr",
"transcript": "ENST00000931835.1",
"protein_id": "ENSP00000601894.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 764,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931835.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2164G>T",
"hgvs_p": "p.Asp722Tyr",
"transcript": "ENST00000931839.1",
"protein_id": "ENSP00000601898.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 764,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931839.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2164G>T",
"hgvs_p": "p.Asp722Tyr",
"transcript": "ENST00000931842.1",
"protein_id": "ENSP00000601901.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 764,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931842.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2161G>T",
"hgvs_p": "p.Asp721Tyr",
"transcript": "ENST00000962308.1",
"protein_id": "ENSP00000632367.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 763,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962308.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2158G>T",
"hgvs_p": "p.Asp720Tyr",
"transcript": "ENST00000905793.1",
"protein_id": "ENSP00000575852.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 762,
"cds_start": 2158,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905793.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2149G>T",
"hgvs_p": "p.Asp717Tyr",
"transcript": "ENST00000962304.1",
"protein_id": "ENSP00000632363.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 759,
"cds_start": 2149,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962304.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2140G>T",
"hgvs_p": "p.Asp714Tyr",
"transcript": "ENST00000905765.1",
"protein_id": "ENSP00000575824.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 756,
"cds_start": 2140,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905765.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2140G>T",
"hgvs_p": "p.Asp714Tyr",
"transcript": "ENST00000905781.1",
"protein_id": "ENSP00000575840.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 756,
"cds_start": 2140,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905781.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2140G>T",
"hgvs_p": "p.Asp714Tyr",
"transcript": "ENST00000905784.1",
"protein_id": "ENSP00000575843.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 756,
"cds_start": 2140,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905784.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2140G>T",
"hgvs_p": "p.Asp714Tyr",
"transcript": "ENST00000931838.1",
"protein_id": "ENSP00000601897.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 756,
"cds_start": 2140,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931838.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2140G>T",
"hgvs_p": "p.Asp714Tyr",
"transcript": "ENST00000931840.1",
"protein_id": "ENSP00000601899.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 756,
"cds_start": 2140,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931840.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2140G>T",
"hgvs_p": "p.Asp714Tyr",
"transcript": "ENST00000931843.1",
"protein_id": "ENSP00000601902.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 756,
"cds_start": 2140,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931843.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2140G>T",
"hgvs_p": "p.Asp714Tyr",
"transcript": "ENST00000962312.1",
"protein_id": "ENSP00000632371.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 756,
"cds_start": 2140,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962312.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2104G>T",
"hgvs_p": "p.Asp702Tyr",
"transcript": "ENST00000905773.1",
"protein_id": "ENSP00000575832.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 744,
"cds_start": 2104,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905773.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2104G>T",
"hgvs_p": "p.Asp702Tyr",
"transcript": "ENST00000931844.1",
"protein_id": "ENSP00000601903.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 744,
"cds_start": 2104,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931844.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2104G>T",
"hgvs_p": "p.Asp702Tyr",
"transcript": "ENST00000962306.1",
"protein_id": "ENSP00000632365.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 744,
"cds_start": 2104,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962306.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2104G>T",
"hgvs_p": "p.Asp702Tyr",
"transcript": "ENST00000962310.1",
"protein_id": "ENSP00000632369.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 744,
"cds_start": 2104,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962310.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2080G>T",
"hgvs_p": "p.Asp694Tyr",
"transcript": "ENST00000905768.1",
"protein_id": "ENSP00000575827.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 736,
"cds_start": 2080,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905768.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2053G>T",
"hgvs_p": "p.Asp685Tyr",
"transcript": "NM_001076683.2",
"protein_id": "NP_001070151.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 727,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001076683.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2053G>T",
"hgvs_p": "p.Asp685Tyr",
"transcript": "NM_001076684.3",
"protein_id": "NP_001070152.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 727,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001076684.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2053G>T",
"hgvs_p": "p.Asp685Tyr",
"transcript": "ENST00000526094.5",
"protein_id": "ENSP00000432925.1",
"transcript_support_level": 5,
"aa_start": 685,
"aa_end": null,
"aa_length": 727,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526094.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2053G>T",
"hgvs_p": "p.Asp685Tyr",
"transcript": "ENST00000533177.5",
"protein_id": "ENSP00000437180.1",
"transcript_support_level": 5,
"aa_start": 685,
"aa_end": null,
"aa_length": 727,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533177.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2053G>T",
"hgvs_p": "p.Asp685Tyr",
"transcript": "ENST00000704742.1",
"protein_id": "ENSP00000516020.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 727,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704742.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2053G>T",
"hgvs_p": "p.Asp685Tyr",
"transcript": "ENST00000905774.1",
"protein_id": "ENSP00000575833.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 727,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905774.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2053G>T",
"hgvs_p": "p.Asp685Tyr",
"transcript": "ENST00000905778.1",
"protein_id": "ENSP00000575837.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 727,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905778.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2053G>T",
"hgvs_p": "p.Asp685Tyr",
"transcript": "ENST00000905779.1",
"protein_id": "ENSP00000575838.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 727,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905779.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2053G>T",
"hgvs_p": "p.Asp685Tyr",
"transcript": "ENST00000905783.1",
"protein_id": "ENSP00000575842.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 727,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905783.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2053G>T",
"hgvs_p": "p.Asp685Tyr",
"transcript": "ENST00000905788.1",
"protein_id": "ENSP00000575847.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 727,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905788.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2053G>T",
"hgvs_p": "p.Asp685Tyr",
"transcript": "ENST00000905791.1",
"protein_id": "ENSP00000575850.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 727,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905791.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2053G>T",
"hgvs_p": "p.Asp685Tyr",
"transcript": "ENST00000905792.1",
"protein_id": "ENSP00000575851.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 727,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905792.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2053G>T",
"hgvs_p": "p.Asp685Tyr",
"transcript": "ENST00000962302.1",
"protein_id": "ENSP00000632361.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 727,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962302.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2053G>T",
"hgvs_p": "p.Asp685Tyr",
"transcript": "ENST00000962303.1",
"protein_id": "ENSP00000632362.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 727,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962303.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2050G>T",
"hgvs_p": "p.Asp684Tyr",
"transcript": "ENST00000962307.1",
"protein_id": "ENSP00000632366.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 726,
"cds_start": 2050,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962307.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2047G>T",
"hgvs_p": "p.Asp683Tyr",
"transcript": "ENST00000905796.1",
"protein_id": "ENSP00000575855.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 725,
"cds_start": 2047,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905796.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2047G>T",
"hgvs_p": "p.Asp683Tyr",
"transcript": "ENST00000931833.1",
"protein_id": "ENSP00000601892.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 725,
"cds_start": 2047,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931833.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2038G>T",
"hgvs_p": "p.Asp680Tyr",
"transcript": "ENST00000905775.1",
"protein_id": "ENSP00000575834.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 722,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905775.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2038G>T",
"hgvs_p": "p.Asp680Tyr",
"transcript": "ENST00000905785.1",
"protein_id": "ENSP00000575844.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 722,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905785.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2029G>T",
"hgvs_p": "p.Asp677Tyr",
"transcript": "ENST00000905767.1",
"protein_id": "ENSP00000575826.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 719,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905767.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2029G>T",
"hgvs_p": "p.Asp677Tyr",
"transcript": "ENST00000905769.1",
"protein_id": "ENSP00000575828.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 719,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905769.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2029G>T",
"hgvs_p": "p.Asp677Tyr",
"transcript": "ENST00000905786.1",
"protein_id": "ENSP00000575845.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 719,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905786.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2029G>T",
"hgvs_p": "p.Asp677Tyr",
"transcript": "ENST00000905795.1",
"protein_id": "ENSP00000575854.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 719,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905795.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2029G>T",
"hgvs_p": "p.Asp677Tyr",
"transcript": "ENST00000962313.1",
"protein_id": "ENSP00000632372.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 719,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962313.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2029G>T",
"hgvs_p": "p.Asp677Tyr",
"transcript": "ENST00000962314.1",
"protein_id": "ENSP00000632373.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 719,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962314.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2011G>T",
"hgvs_p": "p.Asp671Tyr",
"transcript": "ENST00000905772.1",
"protein_id": "ENSP00000575831.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 713,
"cds_start": 2011,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905772.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2011G>T",
"hgvs_p": "p.Asp671Tyr",
"transcript": "ENST00000905787.1",
"protein_id": "ENSP00000575846.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 713,
"cds_start": 2011,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905787.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2011G>T",
"hgvs_p": "p.Asp671Tyr",
"transcript": "ENST00000962301.1",
"protein_id": "ENSP00000632360.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 713,
"cds_start": 2011,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962301.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2008G>T",
"hgvs_p": "p.Asp670Tyr",
"transcript": "ENST00000905777.1",
"protein_id": "ENSP00000575836.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 712,
"cds_start": 2008,
"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": "ENST00000905777.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2008G>T",
"hgvs_p": "p.Asp670Tyr",
"transcript": "ENST00000931834.1",
"protein_id": "ENSP00000601893.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 712,
"cds_start": 2008,
"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": "ENST00000931834.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2008G>T",
"hgvs_p": "p.Asp670Tyr",
"transcript": "ENST00000931841.1",
"protein_id": "ENSP00000601900.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 712,
"cds_start": 2008,
"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": "ENST00000931841.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.1969G>T",
"hgvs_p": "p.Asp657Tyr",
"transcript": "ENST00000905770.1",
"protein_id": "ENSP00000575829.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 699,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905770.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.1969G>T",
"hgvs_p": "p.Asp657Tyr",
"transcript": "ENST00000962305.1",
"protein_id": "ENSP00000632364.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 699,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962305.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.1969G>T",
"hgvs_p": "p.Asp657Tyr",
"transcript": "ENST00000962311.1",
"protein_id": "ENSP00000632370.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 699,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962311.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.1948G>T",
"hgvs_p": "p.Asp650Tyr",
"transcript": "ENST00000931837.1",
"protein_id": "ENSP00000601896.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 692,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931837.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.1897G>T",
"hgvs_p": "p.Asp633Tyr",
"transcript": "ENST00000905766.1",
"protein_id": "ENSP00000575825.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 675,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905766.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.1897G>T",
"hgvs_p": "p.Asp633Tyr",
"transcript": "ENST00000905771.1",
"protein_id": "ENSP00000575830.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 675,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905771.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.1897G>T",
"hgvs_p": "p.Asp633Tyr",
"transcript": "ENST00000905790.1",
"protein_id": "ENSP00000575849.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 675,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905790.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.1897G>T",
"hgvs_p": "p.Asp633Tyr",
"transcript": "ENST00000905797.1",
"protein_id": "ENSP00000575856.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 675,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905797.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.1897G>T",
"hgvs_p": "p.Asp633Tyr",
"transcript": "ENST00000962315.1",
"protein_id": "ENSP00000632374.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 675,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962315.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.1873G>T",
"hgvs_p": "p.Asp625Tyr",
"transcript": "ENST00000931836.1",
"protein_id": "ENSP00000601895.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 667,
"cds_start": 1873,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931836.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "c.2049G>T",
"hgvs_p": "p.Gly683Gly",
"transcript": "ENST00000527034.5",
"protein_id": "ENSP00000431539.1",
"transcript_support_level": 5,
"aa_start": 683,
"aa_end": null,
"aa_length": 745,
"cds_start": 2049,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527034.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "n.*412G>T",
"hgvs_p": null,
"transcript": "ENST00000704740.1",
"protein_id": "ENSP00000516018.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000704740.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "n.2335G>T",
"hgvs_p": null,
"transcript": "NR_045058.2",
"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_045058.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "n.*412G>T",
"hgvs_p": null,
"transcript": "ENST00000704740.1",
"protein_id": "ENSP00000516018.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000704740.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3-AS1",
"gene_hgnc_id": 55298,
"hgvs_c": "n.53+8525C>A",
"hgvs_p": null,
"transcript": "ENST00000586560.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000586560.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3-AS1",
"gene_hgnc_id": 55298,
"hgvs_c": "n.139+8529C>A",
"hgvs_p": null,
"transcript": "ENST00000717216.1",
"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": "ENST00000717216.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3-AS1",
"gene_hgnc_id": 55298,
"hgvs_c": "n.90+8529C>A",
"hgvs_p": null,
"transcript": "ENST00000848873.1",
"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": "ENST00000848873.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3-AS1",
"gene_hgnc_id": 55298,
"hgvs_c": "n.122+8529C>A",
"hgvs_p": null,
"transcript": "ENST00000848874.1",
"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": "ENST00000848874.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3-AS1",
"gene_hgnc_id": 55298,
"hgvs_c": "n.92+8529C>A",
"hgvs_p": null,
"transcript": "ENST00000848875.1",
"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": "ENST00000848875.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3-AS1",
"gene_hgnc_id": 55298,
"hgvs_c": "n.131+8525C>A",
"hgvs_p": null,
"transcript": "ENST00000848876.1",
"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": "ENST00000848876.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN7L3-AS1",
"gene_hgnc_id": 55298,
"hgvs_c": "n.91+8529C>A",
"hgvs_p": null,
"transcript": "NR_184071.1",
"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_184071.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"hgvs_c": "n.*28G>T",
"hgvs_p": null,
"transcript": "ENST00000529947.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000529947.1"
}
],
"gene_symbol": "UBTF",
"gene_hgnc_id": 12511,
"dbsnp": "rs483352703",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7040168642997742,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.9900000095367432,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.515,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3601,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.344,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.99,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014233.4",
"gene_symbol": "UBTF",
"hgnc_id": 12511,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2164G>T",
"hgvs_p": "p.Asp722Tyr"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000586560.1",
"gene_symbol": "ATXN7L3-AS1",
"hgnc_id": 55298,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.53+8525C>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}