← 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: X-85271034-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=85271034&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 85271034,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001330574.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Val544Ile",
"transcript": "NM_001330574.2",
"protein_id": "NP_001317503.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 807,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000674551.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330574.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Val544Ile",
"transcript": "ENST00000674551.1",
"protein_id": "ENSP00000502839.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 807,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001330574.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674551.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Val544Ile",
"transcript": "ENST00000360700.4",
"protein_id": "ENSP00000353922.4",
"transcript_support_level": 1,
"aa_start": 544,
"aa_end": null,
"aa_length": 807,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360700.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Val498Ile",
"transcript": "ENST00000276123.7",
"protein_id": "ENSP00000276123.3",
"transcript_support_level": 1,
"aa_start": 498,
"aa_end": null,
"aa_length": 761,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000276123.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Val498Ile",
"transcript": "ENST00000373165.7",
"protein_id": "ENSP00000362260.3",
"transcript_support_level": 1,
"aa_start": 498,
"aa_end": null,
"aa_length": 761,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373165.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Val544Ile",
"transcript": "NM_001375431.1",
"protein_id": "NP_001362360.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 807,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375431.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Val544Ile",
"transcript": "NM_001375432.1",
"protein_id": "NP_001362361.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 807,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375432.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Val544Ile",
"transcript": "NM_001375433.1",
"protein_id": "NP_001362362.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 807,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375433.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Val544Ile",
"transcript": "ENST00000881748.1",
"protein_id": "ENSP00000551807.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 807,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881748.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Val544Ile",
"transcript": "ENST00000881753.1",
"protein_id": "ENSP00000551812.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 807,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881753.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Val544Ile",
"transcript": "ENST00000881755.1",
"protein_id": "ENSP00000551814.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 807,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881755.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Val544Ile",
"transcript": "ENST00000881756.1",
"protein_id": "ENSP00000551815.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 807,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881756.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Val544Ile",
"transcript": "ENST00000881760.1",
"protein_id": "ENSP00000551819.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 807,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881760.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Val544Ile",
"transcript": "ENST00000939582.1",
"protein_id": "ENSP00000609641.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 807,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939582.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Val544Ile",
"transcript": "ENST00000939583.1",
"protein_id": "ENSP00000609642.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 807,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939583.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Val544Ile",
"transcript": "ENST00000939586.1",
"protein_id": "ENSP00000609645.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 807,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939586.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1516G>A",
"hgvs_p": "p.Val506Ile",
"transcript": "ENST00000939588.1",
"protein_id": "ENSP00000609647.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 769,
"cds_start": 1516,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939588.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1507G>A",
"hgvs_p": "p.Val503Ile",
"transcript": "ENST00000939578.1",
"protein_id": "ENSP00000609637.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 766,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939578.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1507G>A",
"hgvs_p": "p.Val503Ile",
"transcript": "ENST00000939579.1",
"protein_id": "ENSP00000609638.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 766,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939579.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1507G>A",
"hgvs_p": "p.Val503Ile",
"transcript": "ENST00000972099.1",
"protein_id": "ENSP00000642158.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 766,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972099.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Val498Ile",
"transcript": "NM_001375434.1",
"protein_id": "NP_001362363.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 761,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375434.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Val498Ile",
"transcript": "NM_001375435.1",
"protein_id": "NP_001362364.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 761,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375435.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Val498Ile",
"transcript": "NM_001375436.1",
"protein_id": "NP_001362365.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 761,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375436.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Val498Ile",
"transcript": "NM_001375437.1",
"protein_id": "NP_001362366.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 761,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375437.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Val498Ile",
"transcript": "NM_021998.5",
"protein_id": "NP_068838.3",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 761,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021998.5"
},
{
"aa_ref": "V",
"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": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Val498Ile",
"transcript": "ENST00000881749.1",
"protein_id": "ENSP00000551808.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 761,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881749.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Val498Ile",
"transcript": "ENST00000881750.1",
"protein_id": "ENSP00000551809.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 761,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881750.1"
},
{
"aa_ref": "V",
"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": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Val498Ile",
"transcript": "ENST00000881751.1",
"protein_id": "ENSP00000551810.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 761,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881751.1"
},
{
"aa_ref": "V",
"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": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Val498Ile",
"transcript": "ENST00000881752.1",
"protein_id": "ENSP00000551811.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 761,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881752.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Val498Ile",
"transcript": "ENST00000881754.1",
"protein_id": "ENSP00000551813.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 761,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881754.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Val498Ile",
"transcript": "ENST00000881757.1",
"protein_id": "ENSP00000551816.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 761,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881757.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Val498Ile",
"transcript": "ENST00000881759.1",
"protein_id": "ENSP00000551818.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 761,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881759.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Val498Ile",
"transcript": "ENST00000939580.1",
"protein_id": "ENSP00000609639.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 761,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939580.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Val498Ile",
"transcript": "ENST00000939584.1",
"protein_id": "ENSP00000609643.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 761,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939584.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Val498Ile",
"transcript": "ENST00000939585.1",
"protein_id": "ENSP00000609644.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 761,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939585.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Val498Ile",
"transcript": "ENST00000939587.1",
"protein_id": "ENSP00000609646.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 761,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939587.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Val498Ile",
"transcript": "ENST00000972101.1",
"protein_id": "ENSP00000642160.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 761,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972101.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1438G>A",
"hgvs_p": "p.Val480Ile",
"transcript": "ENST00000939581.1",
"protein_id": "ENSP00000609640.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 743,
"cds_start": 1438,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939581.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1378G>A",
"hgvs_p": "p.Val460Ile",
"transcript": "ENST00000881758.1",
"protein_id": "ENSP00000551817.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 723,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881758.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Val457Ile",
"transcript": "ENST00000972100.1",
"protein_id": "ENSP00000642159.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 720,
"cds_start": 1369,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972100.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Val363Ile",
"transcript": "ENST00000939577.1",
"protein_id": "ENSP00000609636.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 626,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939577.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1642G>A",
"hgvs_p": "p.Val548Ile",
"transcript": "XM_011531019.2",
"protein_id": "XP_011529321.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 811,
"cds_start": 1642,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531019.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1642G>A",
"hgvs_p": "p.Val548Ile",
"transcript": "XM_011531020.2",
"protein_id": "XP_011529322.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 811,
"cds_start": 1642,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531020.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1642G>A",
"hgvs_p": "p.Val548Ile",
"transcript": "XM_011531021.2",
"protein_id": "XP_011529323.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 811,
"cds_start": 1642,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531021.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1642G>A",
"hgvs_p": "p.Val548Ile",
"transcript": "XM_011531022.2",
"protein_id": "XP_011529324.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 811,
"cds_start": 1642,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531022.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1642G>A",
"hgvs_p": "p.Val548Ile",
"transcript": "XM_011531023.4",
"protein_id": "XP_011529325.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 811,
"cds_start": 1642,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531023.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1642G>A",
"hgvs_p": "p.Val548Ile",
"transcript": "XM_047442462.1",
"protein_id": "XP_047298418.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 811,
"cds_start": 1642,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442462.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Val544Ile",
"transcript": "XM_005262187.2",
"protein_id": "XP_005262244.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 807,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262187.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Val544Ile",
"transcript": "XM_005262188.2",
"protein_id": "XP_005262245.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 807,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262188.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Val544Ile",
"transcript": "XM_047442464.1",
"protein_id": "XP_047298420.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 807,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442464.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Val544Ile",
"transcript": "XM_047442465.1",
"protein_id": "XP_047298421.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 807,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442465.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Val544Ile",
"transcript": "XM_047442466.1",
"protein_id": "XP_047298422.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 807,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442466.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1504G>A",
"hgvs_p": "p.Val502Ile",
"transcript": "XM_011531025.2",
"protein_id": "XP_011529327.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 765,
"cds_start": 1504,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531025.2"
},
{
"aa_ref": "V",
"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": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Val498Ile",
"transcript": "XM_017029809.2",
"protein_id": "XP_016885298.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 761,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029809.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Val498Ile",
"transcript": "XM_047442467.1",
"protein_id": "XP_047298423.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 761,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442467.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Val498Ile",
"transcript": "XM_047442468.1",
"protein_id": "XP_047298424.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 761,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442468.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Val498Ile",
"transcript": "XM_047442469.1",
"protein_id": "XP_047298425.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 761,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442469.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Val498Ile",
"transcript": "XM_047442470.1",
"protein_id": "XP_047298426.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 761,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442470.1"
}
],
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"dbsnp": "rs754789075",
"frequency_reference_population": 0.000006615326,
"hom_count_reference_population": 2,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000637671,
"gnomad_genomes_af": 0.00000896314,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.34368783235549927,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.204,
"revel_prediction": "Benign",
"alphamissense_score": 0.1623,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.029,
"phylop100way_prediction": "Pathogenic",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001330574.2",
"gene_symbol": "ZNF711",
"hgnc_id": 13128,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Val544Ile"
}
],
"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
}