← 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: 14-64522570-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=64522570&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 64522570,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001123329.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "NM_001123329.2",
"protein_id": "NP_001116801.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 3642,
"mane_select": "ENST00000683701.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001123329.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000683701.1",
"protein_id": "ENSP00000506911.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 3642,
"mane_select": "NM_001123329.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683701.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000554015.5",
"protein_id": "ENSP00000451000.1",
"transcript_support_level": 1,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1497,
"cdna_end": null,
"cdna_length": 2825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554015.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000358738.3",
"protein_id": "ENSP00000351587.3",
"transcript_support_level": 1,
"aa_start": 356,
"aa_end": null,
"aa_length": 644,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1457,
"cdna_end": null,
"cdna_length": 4119,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358738.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "NM_001438534.1",
"protein_id": "NP_001425463.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 4128,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438534.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000865017.1",
"protein_id": "ENSP00000535076.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1320,
"cdna_end": null,
"cdna_length": 3167,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865017.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000865018.1",
"protein_id": "ENSP00000535077.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1497,
"cdna_end": null,
"cdna_length": 4254,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865018.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000865019.1",
"protein_id": "ENSP00000535078.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 4224,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865019.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000865020.1",
"protein_id": "ENSP00000535079.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 3878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865020.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000865021.1",
"protein_id": "ENSP00000535080.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 3885,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865021.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000865022.1",
"protein_id": "ENSP00000535081.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2362,
"cdna_end": null,
"cdna_length": 4438,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865022.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000865023.1",
"protein_id": "ENSP00000535082.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1751,
"cdna_end": null,
"cdna_length": 3827,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865023.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000865024.1",
"protein_id": "ENSP00000535083.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1320,
"cdna_end": null,
"cdna_length": 3222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865024.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000865025.1",
"protein_id": "ENSP00000535084.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 4001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865025.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000865026.1",
"protein_id": "ENSP00000535085.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1492,
"cdna_end": null,
"cdna_length": 2891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865026.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000865027.1",
"protein_id": "ENSP00000535086.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1665,
"cdna_end": null,
"cdna_length": 3051,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865027.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000865028.1",
"protein_id": "ENSP00000535087.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2619,
"cdna_end": null,
"cdna_length": 4002,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865028.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000865029.1",
"protein_id": "ENSP00000535088.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 3032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865029.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000865030.1",
"protein_id": "ENSP00000535089.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2427,
"cdna_end": null,
"cdna_length": 3810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865030.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000865031.1",
"protein_id": "ENSP00000535090.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2670,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865031.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000865032.1",
"protein_id": "ENSP00000535091.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2412,
"cdna_end": null,
"cdna_length": 3798,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865032.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000865033.1",
"protein_id": "ENSP00000535092.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 2919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865033.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000865034.1",
"protein_id": "ENSP00000535093.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1706,
"cdna_end": null,
"cdna_length": 3088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865034.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000865035.1",
"protein_id": "ENSP00000535094.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865035.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000865036.1",
"protein_id": "ENSP00000535095.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 2894,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865036.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000865037.1",
"protein_id": "ENSP00000535096.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 2894,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865037.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000865038.1",
"protein_id": "ENSP00000535097.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865038.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000865039.1",
"protein_id": "ENSP00000535098.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 3598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865039.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000865040.1",
"protein_id": "ENSP00000535099.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 3436,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865040.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000865041.1",
"protein_id": "ENSP00000535100.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2842,
"cdna_end": null,
"cdna_length": 5321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865041.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000865042.1",
"protein_id": "ENSP00000535101.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2540,
"cdna_end": null,
"cdna_length": 4616,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865042.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000865043.1",
"protein_id": "ENSP00000535102.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1499,
"cdna_end": null,
"cdna_length": 2885,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865043.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000922367.1",
"protein_id": "ENSP00000592426.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 7104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922367.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000922368.1",
"protein_id": "ENSP00000592427.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 3476,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922368.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000922369.1",
"protein_id": "ENSP00000592428.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2796,
"cdna_end": null,
"cdna_length": 4866,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922369.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000922370.1",
"protein_id": "ENSP00000592429.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1374,
"cdna_end": null,
"cdna_length": 2774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922370.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000922371.1",
"protein_id": "ENSP00000592430.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 3147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922371.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000922372.1",
"protein_id": "ENSP00000592431.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 2905,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922372.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000922373.1",
"protein_id": "ENSP00000592432.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 2876,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922373.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000922374.1",
"protein_id": "ENSP00000592433.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922374.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000922375.1",
"protein_id": "ENSP00000592434.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 2876,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922375.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000922376.1",
"protein_id": "ENSP00000592435.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 3613,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922376.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000922377.1",
"protein_id": "ENSP00000592436.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 3345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922377.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000922378.1",
"protein_id": "ENSP00000592437.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922378.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000922379.1",
"protein_id": "ENSP00000592438.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 3950,
"cdna_end": null,
"cdna_length": 6331,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922379.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000956968.1",
"protein_id": "ENSP00000627027.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 3236,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956968.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000956969.1",
"protein_id": "ENSP00000627028.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1728,
"cdna_end": null,
"cdna_length": 4207,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956969.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000956970.1",
"protein_id": "ENSP00000627029.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 3700,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956970.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000956971.1",
"protein_id": "ENSP00000627030.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1239,
"cdna_end": null,
"cdna_length": 3616,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956971.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000956972.1",
"protein_id": "ENSP00000627031.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 4028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956972.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000956973.1",
"protein_id": "ENSP00000627032.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 3014,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956973.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000956974.1",
"protein_id": "ENSP00000627033.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1585,
"cdna_end": null,
"cdna_length": 2970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956974.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000956975.1",
"protein_id": "ENSP00000627034.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2704,
"cdna_end": null,
"cdna_length": 4083,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956975.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000956976.1",
"protein_id": "ENSP00000627035.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2631,
"cdna_end": null,
"cdna_length": 4012,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956976.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000956977.1",
"protein_id": "ENSP00000627036.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2551,
"cdna_end": null,
"cdna_length": 3934,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956977.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000956978.1",
"protein_id": "ENSP00000627037.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 3094,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956978.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000956979.1",
"protein_id": "ENSP00000627038.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 2931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956979.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000956980.1",
"protein_id": "ENSP00000627039.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1385,
"cdna_end": null,
"cdna_length": 2773,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956980.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000956981.1",
"protein_id": "ENSP00000627040.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1565,
"cdna_end": null,
"cdna_length": 2946,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956981.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000956982.1",
"protein_id": "ENSP00000627041.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2255,
"cdna_end": null,
"cdna_length": 3588,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956982.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000956983.1",
"protein_id": "ENSP00000627042.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956983.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "ENST00000956984.1",
"protein_id": "ENSP00000627043.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 2744,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956984.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "NM_014950.3",
"protein_id": "NP_055765.2",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 644,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 3926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014950.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "XM_005267410.2",
"protein_id": "XP_005267467.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 3930,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267410.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "XM_011536566.3",
"protein_id": "XP_011534868.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1413,
"cdna_end": null,
"cdna_length": 3794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536566.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "XM_017021095.2",
"protein_id": "XP_016876584.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 3778,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021095.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "XM_047431086.1",
"protein_id": "XP_047287042.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1459,
"cdna_end": null,
"cdna_length": 3840,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431086.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "XM_047431087.1",
"protein_id": "XP_047287043.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 3799,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431087.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "XM_047431090.1",
"protein_id": "XP_047287046.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1706,
"cdna_end": null,
"cdna_length": 4087,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431090.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "XM_047431091.1",
"protein_id": "XP_047287047.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 3860,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431091.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "XM_047431092.1",
"protein_id": "XP_047287048.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 4276,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431092.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "XM_047431093.1",
"protein_id": "XP_047287049.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1782,
"cdna_end": null,
"cdna_length": 4163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431093.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "XM_047431094.1",
"protein_id": "XP_047287050.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1905,
"cdna_end": null,
"cdna_length": 4286,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431094.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "XM_047431095.1",
"protein_id": "XP_047287051.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 4088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431095.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "XM_047431096.1",
"protein_id": "XP_047287052.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1854,
"cdna_end": null,
"cdna_length": 4235,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431096.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "XM_047431097.1",
"protein_id": "XP_047287053.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1570,
"cdna_end": null,
"cdna_length": 3951,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431097.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "XM_047431098.1",
"protein_id": "XP_047287054.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431098.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "XM_047431100.1",
"protein_id": "XP_047287056.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 3724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431100.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "XM_047431101.1",
"protein_id": "XP_047287057.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1769,
"cdna_end": null,
"cdna_length": 4150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431101.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "XM_047431102.1",
"protein_id": "XP_047287058.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1595,
"cdna_end": null,
"cdna_length": 3976,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431102.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "XM_047431103.1",
"protein_id": "XP_047287059.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2175,
"cdna_end": null,
"cdna_length": 4556,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431103.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "XM_047431104.1",
"protein_id": "XP_047287060.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1554,
"cdna_end": null,
"cdna_length": 3935,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431104.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "XM_047431105.1",
"protein_id": "XP_047287061.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1753,
"cdna_end": null,
"cdna_length": 4134,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431105.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "XM_047431106.1",
"protein_id": "XP_047287062.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 713,
"cds_start": 1066,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431106.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "XM_047431107.1",
"protein_id": "XP_047287063.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 644,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 4412,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431107.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "XM_047431108.1",
"protein_id": "XP_047287064.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 644,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1697,
"cdna_end": null,
"cdna_length": 4362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431108.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "XM_047431110.1",
"protein_id": "XP_047287066.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 644,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1413,
"cdna_end": null,
"cdna_length": 4078,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431110.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala",
"transcript": "XM_047431111.1",
"protein_id": "XP_047287067.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 644,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431111.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HSPA2-AS1",
"gene_hgnc_id": 55433,
"hgvs_c": "n.149-4032T>C",
"hgvs_p": null,
"transcript": "ENST00000554918.1",
"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": 558,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000554918.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HSPA2-AS1",
"gene_hgnc_id": 55433,
"hgvs_c": "n.571-4032T>C",
"hgvs_p": null,
"transcript": "ENST00000648003.1",
"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": 1182,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000648003.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HSPA2-AS1",
"gene_hgnc_id": 55433,
"hgvs_c": "n.150-4032T>C",
"hgvs_p": null,
"transcript": "ENST00000846147.1",
"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": 517,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000846147.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HSPA2-AS1",
"gene_hgnc_id": 55433,
"hgvs_c": "n.140-4032T>C",
"hgvs_p": null,
"transcript": "ENST00000846148.1",
"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": 507,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000846148.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HSPA2-AS1",
"gene_hgnc_id": 55433,
"hgvs_c": "n.90-4032T>C",
"hgvs_p": null,
"transcript": "ENST00000846149.1",
"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": 820,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000846149.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HSPA2-AS1",
"gene_hgnc_id": 55433,
"hgvs_c": "n.149-4032T>C",
"hgvs_p": null,
"transcript": "NR_110550.1",
"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": 561,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_110550.1"
}
],
"gene_symbol": "ZBTB1",
"gene_hgnc_id": 20259,
"dbsnp": "rs376945184",
"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": 0.06803163886070251,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.023,
"revel_prediction": "Benign",
"alphamissense_score": 0.0736,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.31,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001123329.2",
"gene_symbol": "ZBTB1",
"hgnc_id": 20259,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Thr356Ala"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000554918.1",
"gene_symbol": "HSPA2-AS1",
"hgnc_id": 55433,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.149-4032T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}