← 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: 19-9413360-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=9413360&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 9413360,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001370374.1",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "NM_001370374.1",
"protein_id": "NP_001357303.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000592904.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370374.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "ENST00000592904.7",
"protein_id": "ENSP00000466714.2",
"transcript_support_level": 1,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001370374.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592904.7"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "ENST00000588933.5",
"protein_id": "ENSP00000467151.1",
"transcript_support_level": 1,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588933.5"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "ENST00000590306.5",
"protein_id": "ENSP00000467315.1",
"transcript_support_level": 1,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590306.5"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "NM_001370375.1",
"protein_id": "NP_001357304.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370375.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "NM_001370384.1",
"protein_id": "NP_001357313.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370384.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "NM_001370385.1",
"protein_id": "NP_001357314.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370385.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "ENST00000859744.1",
"protein_id": "ENSP00000529803.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859744.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "ENST00000859745.1",
"protein_id": "ENSP00000529804.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859745.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "ENST00000859746.1",
"protein_id": "ENSP00000529805.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859746.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "ENST00000859747.1",
"protein_id": "ENSP00000529806.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859747.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "ENST00000859748.1",
"protein_id": "ENSP00000529807.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859748.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "ENST00000859749.1",
"protein_id": "ENSP00000529808.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859749.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "ENST00000859750.1",
"protein_id": "ENSP00000529809.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859750.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "ENST00000859751.1",
"protein_id": "ENSP00000529810.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859751.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "ENST00000859752.1",
"protein_id": "ENSP00000529811.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859752.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "ENST00000859753.1",
"protein_id": "ENSP00000529812.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859753.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "ENST00000859754.1",
"protein_id": "ENSP00000529813.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859754.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "ENST00000859755.1",
"protein_id": "ENSP00000529814.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859755.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "ENST00000859756.1",
"protein_id": "ENSP00000529815.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859756.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "ENST00000859757.1",
"protein_id": "ENSP00000529816.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859757.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "ENST00000859758.1",
"protein_id": "ENSP00000529817.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859758.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "ENST00000927991.1",
"protein_id": "ENSP00000598050.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927991.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "ENST00000927992.1",
"protein_id": "ENSP00000598051.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927992.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "ENST00000927993.1",
"protein_id": "ENSP00000598052.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927993.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "ENST00000948585.1",
"protein_id": "ENSP00000618644.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948585.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "ENST00000948586.1",
"protein_id": "ENSP00000618645.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948586.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "ENST00000948587.1",
"protein_id": "ENSP00000618646.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948587.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "ENST00000948588.1",
"protein_id": "ENSP00000618647.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948588.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "ENST00000948590.1",
"protein_id": "ENSP00000618649.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948590.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "ENST00000948591.1",
"protein_id": "ENSP00000618650.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948591.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1685G>T",
"hgvs_p": "p.Cys562Phe",
"transcript": "ENST00000948589.1",
"protein_id": "ENSP00000618648.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 589,
"cds_start": 1685,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948589.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "NM_001271314.2",
"protein_id": "NP_001258243.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271314.2"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "NM_001370376.1",
"protein_id": "NP_001357305.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370376.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "NM_001370377.1",
"protein_id": "NP_001357306.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370377.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "NM_001370378.1",
"protein_id": "NP_001357307.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370378.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "NM_001370379.1",
"protein_id": "NP_001357308.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370379.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "NM_001370380.1",
"protein_id": "NP_001357309.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370380.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "NM_001370381.1",
"protein_id": "NP_001357310.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370381.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "NM_001370382.1",
"protein_id": "NP_001357311.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370382.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "NM_001370383.1",
"protein_id": "NP_001357312.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370383.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "NM_001370386.1",
"protein_id": "NP_001357315.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370386.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "NM_001370387.1",
"protein_id": "NP_001357316.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370387.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "NM_001370388.1",
"protein_id": "NP_001357317.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370388.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "NM_001370389.1",
"protein_id": "NP_001357318.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370389.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "NM_001370390.1",
"protein_id": "NP_001357319.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370390.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "NM_001370391.1",
"protein_id": "NP_001357320.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370391.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "NM_001370392.1",
"protein_id": "NP_001357321.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370392.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "NM_001370393.1",
"protein_id": "NP_001357322.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370393.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "NM_001370394.1",
"protein_id": "NP_001357323.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370394.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "NM_001370395.1",
"protein_id": "NP_001357324.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370395.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "NM_001370396.1",
"protein_id": "NP_001357325.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370396.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "NM_001370397.1",
"protein_id": "NP_001357326.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370397.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "NM_001370398.1",
"protein_id": "NP_001357327.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370398.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "NM_001370399.1",
"protein_id": "NP_001357328.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370399.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "NM_001370400.1",
"protein_id": "NP_001357329.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370400.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "NM_006631.4",
"protein_id": "NP_006622.2",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006631.4"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "ENST00000588221.5",
"protein_id": "ENSP00000468491.1",
"transcript_support_level": 2,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588221.5"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "ENST00000592292.5",
"protein_id": "ENSP00000467403.1",
"transcript_support_level": 5,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592292.5"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "ENST00000651268.1",
"protein_id": "ENSP00000498589.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651268.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "XM_006722620.2",
"protein_id": "XP_006722683.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722620.2"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "XM_006722623.4",
"protein_id": "XP_006722686.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722623.4"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "XM_011527644.1",
"protein_id": "XP_011525946.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527644.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "XM_047438064.1",
"protein_id": "XP_047294020.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438064.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "XM_047438065.1",
"protein_id": "XP_047294021.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438065.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "XM_047438066.1",
"protein_id": "XP_047294022.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438066.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "XM_047438067.1",
"protein_id": "XP_047294023.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438067.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "XM_047438068.1",
"protein_id": "XP_047294024.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438068.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe",
"transcript": "XM_047438069.1",
"protein_id": "XP_047294025.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 616,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438069.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "XM_011527650.1",
"protein_id": "XP_011525952.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527650.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "XM_047438070.1",
"protein_id": "XP_047294026.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438070.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "XM_047438071.1",
"protein_id": "XP_047294027.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438071.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "XM_047438072.1",
"protein_id": "XP_047294028.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438072.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "XM_047438073.1",
"protein_id": "XP_047294029.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438073.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.1565G>T",
"hgvs_p": "p.Cys522Phe",
"transcript": "XM_047438074.1",
"protein_id": "XP_047294030.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 549,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438074.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "c.*1329G>T",
"hgvs_p": null,
"transcript": "XM_017026173.2",
"protein_id": "XP_016881662.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": null,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026173.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"hgvs_c": "n.3642G>T",
"hgvs_p": null,
"transcript": "ENST00000648978.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000648978.1"
}
],
"gene_symbol": "ZNF266",
"gene_hgnc_id": 13059,
"dbsnp": "rs1329394394",
"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": 0.7476693391799927,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.294,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8306,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.832,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001370374.1",
"gene_symbol": "ZNF266",
"hgnc_id": 13059,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1766G>T",
"hgvs_p": "p.Cys589Phe"
}
],
"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
}