← 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: 19-36712784-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36712784&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 36712784,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001387759.1",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "NM_001322917.1",
"protein_id": "NP_001309846.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 2802,
"mane_select": "ENST00000682579.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322917.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "ENST00000682579.1",
"protein_id": "ENSP00000507048.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 2802,
"mane_select": "NM_001322917.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682579.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.47G>A",
"hgvs_p": "p.Cys16Tyr",
"transcript": "ENST00000360729.8",
"protein_id": "ENSP00000353957.3",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 616,
"cds_start": 47,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 229,
"cdna_end": null,
"cdna_length": 2691,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360729.8"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.47G>A",
"hgvs_p": "p.Cys16Tyr",
"transcript": "ENST00000585696.5",
"protein_id": "ENSP00000467379.1",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 616,
"cds_start": 47,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 3734,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585696.5"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Cys70Tyr",
"transcript": "NM_001387759.1",
"protein_id": "NP_001374688.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 670,
"cds_start": 209,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 2923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387759.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Cys70Tyr",
"transcript": "ENST00000910221.1",
"protein_id": "ENSP00000580280.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 670,
"cds_start": 209,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 2959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910221.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Cys70Tyr",
"transcript": "ENST00000915758.1",
"protein_id": "ENSP00000585817.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 670,
"cds_start": 209,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 397,
"cdna_end": null,
"cdna_length": 2857,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915758.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "NM_001300979.2",
"protein_id": "NP_001287908.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300979.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "NM_001322913.1",
"protein_id": "NP_001309842.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 2854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322913.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "NM_001322914.1",
"protein_id": "NP_001309843.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322914.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "NM_001322915.1",
"protein_id": "NP_001309844.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 2922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322915.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "NM_001322916.1",
"protein_id": "NP_001309845.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 2798,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322916.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "NM_001322918.1",
"protein_id": "NP_001309847.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 2926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322918.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "NM_001322919.1",
"protein_id": "NP_001309848.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322919.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "NM_001322920.1",
"protein_id": "NP_001309849.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 2974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322920.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "NM_001387760.1",
"protein_id": "NP_001374689.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 2973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387760.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "NM_001387761.1",
"protein_id": "NP_001374690.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 3875,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387761.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "NM_001387762.1",
"protein_id": "NP_001374691.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1554,
"cdna_end": null,
"cdna_length": 4026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387762.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "NM_001387763.1",
"protein_id": "NP_001374692.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 2753,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387763.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "NM_001387764.1",
"protein_id": "NP_001374693.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387764.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "NM_001387765.1",
"protein_id": "NP_001374694.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 2935,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387765.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "NM_001387766.1",
"protein_id": "NP_001374695.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 3046,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387766.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "NM_001387767.1",
"protein_id": "NP_001374696.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 2841,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387767.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "NM_001387768.1",
"protein_id": "NP_001374697.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 229,
"cdna_end": null,
"cdna_length": 2701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387768.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "NM_001387769.1",
"protein_id": "NP_001374698.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 3078,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387769.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "NM_001387770.1",
"protein_id": "NP_001374699.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 3035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387770.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "NM_001387771.1",
"protein_id": "NP_001374700.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 339,
"cdna_end": null,
"cdna_length": 2811,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387771.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "ENST00000536254.6",
"protein_id": "ENSP00000441838.1",
"transcript_support_level": 2,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 2825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536254.6"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "ENST00000910217.1",
"protein_id": "ENSP00000580276.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 3145,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910217.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "ENST00000910218.1",
"protein_id": "ENSP00000580277.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 2930,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910218.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "ENST00000910219.1",
"protein_id": "ENSP00000580278.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 3032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910219.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "ENST00000910220.1",
"protein_id": "ENSP00000580279.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 2703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910220.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "ENST00000910223.1",
"protein_id": "ENSP00000580282.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 2830,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910223.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "ENST00000910225.1",
"protein_id": "ENSP00000580284.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910225.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "ENST00000910227.1",
"protein_id": "ENSP00000580286.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 3682,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910227.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "ENST00000915754.1",
"protein_id": "ENSP00000585813.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 2928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915754.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "ENST00000915755.1",
"protein_id": "ENSP00000585814.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 3150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915755.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "ENST00000915756.1",
"protein_id": "ENSP00000585815.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 3072,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915756.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "ENST00000915757.1",
"protein_id": "ENSP00000585816.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 329,
"cdna_end": null,
"cdna_length": 2801,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915757.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "ENST00000915759.1",
"protein_id": "ENSP00000585818.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 2919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915759.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "ENST00000915760.1",
"protein_id": "ENSP00000585819.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 2958,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915760.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "ENST00000915761.1",
"protein_id": "ENSP00000585820.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915761.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "ENST00000915762.1",
"protein_id": "ENSP00000585821.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 3448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915762.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "ENST00000941119.1",
"protein_id": "ENSP00000611178.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 2806,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941119.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "ENST00000941120.1",
"protein_id": "ENSP00000611179.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 3023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941120.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "ENST00000941121.1",
"protein_id": "ENSP00000611180.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 2784,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941121.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "ENST00000941122.1",
"protein_id": "ENSP00000611181.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 672,
"cdna_end": null,
"cdna_length": 3129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941122.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "ENST00000941123.1",
"protein_id": "ENSP00000611182.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 479,
"cdna_end": null,
"cdna_length": 2938,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941123.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Cys39Tyr",
"transcript": "NM_001387772.1",
"protein_id": "NP_001374701.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 639,
"cds_start": 116,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 2747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387772.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.47G>A",
"hgvs_p": "p.Cys16Tyr",
"transcript": "NM_001322911.2",
"protein_id": "NP_001309840.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 616,
"cds_start": 47,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 251,
"cdna_end": null,
"cdna_length": 2723,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322911.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.47G>A",
"hgvs_p": "p.Cys16Tyr",
"transcript": "NM_001322912.1",
"protein_id": "NP_001309841.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 616,
"cds_start": 47,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 2775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322912.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.47G>A",
"hgvs_p": "p.Cys16Tyr",
"transcript": "NM_001387773.1",
"protein_id": "NP_001374702.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 616,
"cds_start": 47,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 154,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387773.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.47G>A",
"hgvs_p": "p.Cys16Tyr",
"transcript": "NM_152603.5",
"protein_id": "NP_689816.2",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 616,
"cds_start": 47,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 255,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152603.5"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.47G>A",
"hgvs_p": "p.Cys16Tyr",
"transcript": "NM_001363651.3",
"protein_id": "NP_001350580.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 592,
"cds_start": 47,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 217,
"cdna_end": null,
"cdna_length": 2081,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363651.3"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.47G>A",
"hgvs_p": "p.Cys16Tyr",
"transcript": "ENST00000588311.5",
"protein_id": "ENSP00000467712.1",
"transcript_support_level": 2,
"aa_start": 16,
"aa_end": null,
"aa_length": 592,
"cds_start": 47,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 187,
"cdna_end": null,
"cdna_length": 2042,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588311.5"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Cys26Tyr",
"transcript": "ENST00000589264.5",
"protein_id": "ENSP00000466458.1",
"transcript_support_level": 2,
"aa_start": 26,
"aa_end": null,
"aa_length": 64,
"cds_start": 77,
"cds_end": null,
"cds_length": 195,
"cdna_start": 77,
"cdna_end": null,
"cdna_length": 319,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589264.5"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Cys52Tyr",
"transcript": "XM_047438320.1",
"protein_id": "XP_047294276.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 652,
"cds_start": 155,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 3822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438320.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Cys52Tyr",
"transcript": "XM_047438321.1",
"protein_id": "XP_047294277.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 652,
"cds_start": 155,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 3003,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438321.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Cys52Tyr",
"transcript": "XM_047438322.1",
"protein_id": "XP_047294278.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 652,
"cds_start": 155,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 3073,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438322.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Cys52Tyr",
"transcript": "XM_047438323.1",
"protein_id": "XP_047294279.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 652,
"cds_start": 155,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 3195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438323.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Cys52Tyr",
"transcript": "XM_047438324.1",
"protein_id": "XP_047294280.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 652,
"cds_start": 155,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 3191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438324.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Cys52Tyr",
"transcript": "XM_047438325.1",
"protein_id": "XP_047294281.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 652,
"cds_start": 155,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 2999,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438325.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "XM_047438326.1",
"protein_id": "XP_047294282.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 3042,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438326.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "XM_047438327.1",
"protein_id": "XP_047294283.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 2978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438327.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "XM_047438328.1",
"protein_id": "XP_047294284.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 647,
"cds_start": 140,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 3170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438328.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Cys52Tyr",
"transcript": "XM_047438329.1",
"protein_id": "XP_047294285.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 645,
"cds_start": 155,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 3437,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438329.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "XM_047438330.1",
"protein_id": "XP_047294286.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 640,
"cds_start": 140,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 3292,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438330.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "XM_047438331.1",
"protein_id": "XP_047294287.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 640,
"cds_start": 140,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1201,
"cdna_end": null,
"cdna_length": 3288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438331.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.155G>A",
"hgvs_p": "p.Cys52Tyr",
"transcript": "XM_047438332.1",
"protein_id": "XP_047294288.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 628,
"cds_start": 155,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 3214,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438332.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "XM_047438333.1",
"protein_id": "XP_047294289.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 623,
"cds_start": 140,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 3069,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438333.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Cys47Tyr",
"transcript": "XM_047438334.1",
"protein_id": "XP_047294290.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 623,
"cds_start": 140,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 3193,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438334.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.47G>A",
"hgvs_p": "p.Cys16Tyr",
"transcript": "XM_047438335.1",
"protein_id": "XP_047294291.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 616,
"cds_start": 47,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 217,
"cdna_end": null,
"cdna_length": 2689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438335.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.38G>A",
"hgvs_p": "p.Cys13Tyr",
"transcript": "XM_047438336.1",
"protein_id": "XP_047294292.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 613,
"cds_start": 38,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 136,
"cdna_end": null,
"cdna_length": 2608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438336.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "n.35G>A",
"hgvs_p": null,
"transcript": "ENST00000591308.1",
"protein_id": "ENSP00000468750.1",
"transcript_support_level": 5,
"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": 483,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000591308.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "n.*52G>A",
"hgvs_p": null,
"transcript": "ENST00000590392.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 542,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000590392.5"
}
],
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"dbsnp": "rs757238534",
"frequency_reference_population": 0.000036591417,
"hom_count_reference_population": 0,
"allele_count_reference_population": 59,
"gnomad_exomes_af": 0.0000397178,
"gnomad_genomes_af": 0.00000657471,
"gnomad_exomes_ac": 58,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09899386763572693,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.17,
"revel_prediction": "Benign",
"alphamissense_score": 0.1257,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.573,
"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_001387759.1",
"gene_symbol": "ZNF567",
"hgnc_id": 28696,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Cys70Tyr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}