← 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: 19-9341804-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=9341804&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 9341804,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001202406.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "NM_032497.3",
"protein_id": "NP_115886.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000603380.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032497.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000603380.6",
"protein_id": "ENSP00000474760.1",
"transcript_support_level": 2,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032497.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000603380.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.*176C>T",
"hgvs_p": null,
"transcript": "ENST00000592896.5",
"protein_id": "ENSP00000466496.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 112,
"cds_start": null,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592896.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.*176C>T",
"hgvs_p": null,
"transcript": "ENST00000585352.5",
"protein_id": "ENSP00000467048.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 84,
"cds_start": null,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585352.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF559-ZNF177",
"gene_hgnc_id": 42964,
"hgvs_c": "c.-391+3222C>T",
"hgvs_p": null,
"transcript": "ENST00000541595.6",
"protein_id": "ENSP00000445323.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 321,
"cds_start": null,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541595.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.327+620C>T",
"hgvs_p": null,
"transcript": "ENST00000586255.5",
"protein_id": "ENSP00000465787.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": null,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586255.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Ile",
"transcript": "NM_001202406.1",
"protein_id": "NP_001189335.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 602,
"cds_start": 545,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202406.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Ile",
"transcript": "ENST00000587557.5",
"protein_id": "ENSP00000468153.2",
"transcript_support_level": 2,
"aa_start": 182,
"aa_end": null,
"aa_length": 602,
"cds_start": 545,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587557.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000393883.6",
"protein_id": "ENSP00000377461.1",
"transcript_support_level": 2,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393883.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000861660.1",
"protein_id": "ENSP00000531719.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861660.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000861661.1",
"protein_id": "ENSP00000531720.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861661.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000861662.1",
"protein_id": "ENSP00000531721.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861662.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000861663.1",
"protein_id": "ENSP00000531722.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861663.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000861664.1",
"protein_id": "ENSP00000531723.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861664.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000861665.1",
"protein_id": "ENSP00000531724.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861665.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000861666.1",
"protein_id": "ENSP00000531725.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861666.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000861667.1",
"protein_id": "ENSP00000531726.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861667.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000861668.1",
"protein_id": "ENSP00000531727.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861668.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000861669.1",
"protein_id": "ENSP00000531728.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861669.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000861670.1",
"protein_id": "ENSP00000531729.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861670.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000861671.1",
"protein_id": "ENSP00000531730.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861671.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000861672.1",
"protein_id": "ENSP00000531731.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861672.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000861673.1",
"protein_id": "ENSP00000531732.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861673.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000861674.1",
"protein_id": "ENSP00000531733.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861674.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000861675.1",
"protein_id": "ENSP00000531734.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861675.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000861676.1",
"protein_id": "ENSP00000531735.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861676.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000861677.1",
"protein_id": "ENSP00000531736.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861677.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000861678.1",
"protein_id": "ENSP00000531737.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861678.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000861679.1",
"protein_id": "ENSP00000531738.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861679.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000861680.1",
"protein_id": "ENSP00000531739.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861680.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000927122.1",
"protein_id": "ENSP00000597181.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927122.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000927123.1",
"protein_id": "ENSP00000597182.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927123.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000927124.1",
"protein_id": "ENSP00000597183.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927124.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000965257.1",
"protein_id": "ENSP00000635316.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965257.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000965258.1",
"protein_id": "ENSP00000635317.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965258.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000965259.1",
"protein_id": "ENSP00000635318.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965259.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000965260.1",
"protein_id": "ENSP00000635319.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965260.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000965261.1",
"protein_id": "ENSP00000635320.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965261.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000965262.1",
"protein_id": "ENSP00000635321.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 538,
"cds_start": 353,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965262.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Ile",
"transcript": "ENST00000605750.5",
"protein_id": "ENSP00000474719.1",
"transcript_support_level": 2,
"aa_start": 104,
"aa_end": null,
"aa_length": 524,
"cds_start": 311,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000605750.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Thr76Ile",
"transcript": "NM_001202407.3",
"protein_id": "NP_001189336.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 496,
"cds_start": 227,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202407.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.113C>T",
"hgvs_p": "p.Thr38Ile",
"transcript": "ENST00000589208.1",
"protein_id": "ENSP00000474260.1",
"transcript_support_level": 4,
"aa_start": 38,
"aa_end": null,
"aa_length": 146,
"cds_start": 113,
"cds_end": null,
"cds_length": 443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589208.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.*335C>T",
"hgvs_p": null,
"transcript": "ENST00000592504.5",
"protein_id": "ENSP00000467841.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": null,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592504.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.*176C>T",
"hgvs_p": null,
"transcript": "NM_001202408.1",
"protein_id": "NP_001189337.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 148,
"cds_start": null,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202408.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.*176C>T",
"hgvs_p": null,
"transcript": "NM_001202409.2",
"protein_id": "NP_001189338.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 112,
"cds_start": null,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202409.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.*176C>T",
"hgvs_p": null,
"transcript": "NM_001202410.2",
"protein_id": "NP_001189339.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 84,
"cds_start": null,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202410.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.*176C>T",
"hgvs_p": null,
"transcript": "NM_001202411.2",
"protein_id": "NP_001189340.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 84,
"cds_start": null,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202411.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.*176C>T",
"hgvs_p": null,
"transcript": "NM_001202412.2",
"protein_id": "NP_001189341.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 84,
"cds_start": null,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202412.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.*176C>T",
"hgvs_p": null,
"transcript": "ENST00000317221.11",
"protein_id": "ENSP00000325393.7",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 84,
"cds_start": null,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317221.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF559-ZNF177",
"gene_hgnc_id": 42964,
"hgvs_c": "c.-249+620C>T",
"hgvs_p": null,
"transcript": "NM_001384659.1",
"protein_id": "NP_001371588.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 481,
"cds_start": null,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384659.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF559-ZNF177",
"gene_hgnc_id": 42964,
"hgvs_c": "c.-391+3222C>T",
"hgvs_p": null,
"transcript": "NM_001172650.3",
"protein_id": "NP_001166121.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 321,
"cds_start": null,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172650.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF559-ZNF177",
"gene_hgnc_id": 42964,
"hgvs_c": "c.-249+17024C>T",
"hgvs_p": null,
"transcript": "ENST00000603656.5",
"protein_id": "ENSP00000474602.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": null,
"cds_end": null,
"cds_length": 379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000603656.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF559-ZNF177",
"gene_hgnc_id": 42964,
"hgvs_c": "c.-392+17024C>T",
"hgvs_p": null,
"transcript": "NM_001202425.1",
"protein_id": "NP_001189354.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202425.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF559-ZNF177",
"gene_hgnc_id": 42964,
"hgvs_c": "c.-392+17024C>T",
"hgvs_p": null,
"transcript": "ENST00000446085.8",
"protein_id": "ENSP00000413568.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446085.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"hgvs_c": "c.147+620C>T",
"hgvs_p": null,
"transcript": "ENST00000591652.1",
"protein_id": "ENSP00000466745.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 52,
"cds_start": null,
"cds_end": null,
"cds_length": 159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591652.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF559-ZNF177",
"gene_hgnc_id": 42964,
"hgvs_c": "n.91+17024C>T",
"hgvs_p": null,
"transcript": "ENST00000593242.7",
"protein_id": "ENSP00000474108.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000593242.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF559-ZNF177",
"gene_hgnc_id": 42964,
"hgvs_c": "n.219+620C>T",
"hgvs_p": null,
"transcript": "ENST00000603024.5",
"protein_id": "ENSP00000474980.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000603024.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF559-ZNF177",
"gene_hgnc_id": 42964,
"hgvs_c": "n.536+620C>T",
"hgvs_p": null,
"transcript": "ENST00000603099.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000603099.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF559-ZNF177",
"gene_hgnc_id": 42964,
"hgvs_c": "n.243+620C>T",
"hgvs_p": null,
"transcript": "ENST00000603974.5",
"protein_id": "ENSP00000473911.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000603974.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF559-ZNF177",
"gene_hgnc_id": 42964,
"hgvs_c": "n.*99+620C>T",
"hgvs_p": null,
"transcript": "ENST00000604543.5",
"protein_id": "ENSP00000474716.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000604543.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF559-ZNF177",
"gene_hgnc_id": 42964,
"hgvs_c": "n.136+17024C>T",
"hgvs_p": null,
"transcript": "ENST00000604886.5",
"protein_id": "ENSP00000473968.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000604886.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF559-ZNF177",
"gene_hgnc_id": 42964,
"hgvs_c": "n.118+17024C>T",
"hgvs_p": null,
"transcript": "ENST00000605006.5",
"protein_id": "ENSP00000473974.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000605006.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF559-ZNF177",
"gene_hgnc_id": 42964,
"hgvs_c": "n.243+620C>T",
"hgvs_p": null,
"transcript": "ENST00000605071.5",
"protein_id": "ENSP00000474076.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000605071.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF559-ZNF177",
"gene_hgnc_id": 42964,
"hgvs_c": "n.112+17024C>T",
"hgvs_p": null,
"transcript": "ENST00000605093.5",
"protein_id": "ENSP00000474918.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000605093.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF559-ZNF177",
"gene_hgnc_id": 42964,
"hgvs_c": "n.512+620C>T",
"hgvs_p": null,
"transcript": "ENST00000605301.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000605301.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF559-ZNF177",
"gene_hgnc_id": 42964,
"hgvs_c": "n.144+11615C>T",
"hgvs_p": null,
"transcript": "ENST00000605471.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000605471.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF559-ZNF177",
"gene_hgnc_id": 42964,
"hgvs_c": "n.480+620C>T",
"hgvs_p": null,
"transcript": "ENST00000605522.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000605522.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF559-ZNF177",
"gene_hgnc_id": 42964,
"hgvs_c": "n.136+17024C>T",
"hgvs_p": null,
"transcript": "ENST00000605775.5",
"protein_id": "ENSP00000474354.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000605775.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283108",
"gene_hgnc_id": null,
"hgvs_c": "n.864-16370G>A",
"hgvs_p": null,
"transcript": "ENST00000773254.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000773254.1"
}
],
"gene_symbol": "ZNF559",
"gene_hgnc_id": 28197,
"dbsnp": "rs200764389",
"frequency_reference_population": 0.0000037276388,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000343065,
"gnomad_genomes_af": 0.00000657246,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07094714045524597,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.015,
"revel_prediction": "Benign",
"alphamissense_score": 0.15,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.149,
"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_001202406.1",
"gene_symbol": "ZNF559",
"hgnc_id": 28197,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Ile"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001384659.1",
"gene_symbol": "ZNF559-ZNF177",
"hgnc_id": 42964,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-249+620C>T",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000773254.1",
"gene_symbol": "ENSG00000283108",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.864-16370G>A",
"hgvs_p": null
}
],
"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
}