← 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: 19-52613159-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=52613159&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 52613159,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_018300.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "NM_018300.4",
"protein_id": "NP_060770.3",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000301096.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018300.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "ENST00000301096.8",
"protein_id": "ENSP00000301096.3",
"transcript_support_level": 3,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018300.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301096.8"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "ENST00000597597.1",
"protein_id": "ENSP00000472619.1",
"transcript_support_level": 1,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597597.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "n.2962G>C",
"hgvs_p": null,
"transcript": "ENST00000541777.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000541777.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "NM_001105549.2",
"protein_id": "NP_001099019.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105549.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "NM_001105550.2",
"protein_id": "NP_001099020.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105550.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "NM_001105551.2",
"protein_id": "NP_001099021.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105551.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "NM_001105552.2",
"protein_id": "NP_001099022.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105552.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "NM_001277945.2",
"protein_id": "NP_001264874.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277945.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "NM_001277946.2",
"protein_id": "NP_001264875.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277946.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "NM_001277947.2",
"protein_id": "NP_001264876.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277947.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "NM_001277948.2",
"protein_id": "NP_001264877.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277948.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "NM_001277949.2",
"protein_id": "NP_001264878.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277949.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "NM_001277951.2",
"protein_id": "NP_001264880.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277951.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "NM_001277952.2",
"protein_id": "NP_001264881.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277952.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "NM_001348015.2",
"protein_id": "NP_001334944.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348015.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "NM_001348016.2",
"protein_id": "NP_001334945.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348016.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "NM_001348017.2",
"protein_id": "NP_001334946.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348017.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "NM_001348018.2",
"protein_id": "NP_001334947.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348018.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "NM_001348019.2",
"protein_id": "NP_001334948.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348019.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "ENST00000536937.7",
"protein_id": "ENSP00000445993.3",
"transcript_support_level": 2,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536937.7"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "ENST00000545872.1",
"protein_id": "ENSP00000440713.1",
"transcript_support_level": 2,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545872.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "ENST00000597161.7",
"protein_id": "ENSP00000473096.2",
"transcript_support_level": 4,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597161.7"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "ENST00000706199.2",
"protein_id": "ENSP00000516274.2",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706199.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "ENST00000899770.1",
"protein_id": "ENSP00000569829.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899770.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "ENST00000899771.1",
"protein_id": "ENSP00000569830.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899771.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "ENST00000899772.1",
"protein_id": "ENSP00000569831.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899772.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "ENST00000899773.1",
"protein_id": "ENSP00000569832.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899773.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "ENST00000899774.1",
"protein_id": "ENSP00000569833.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899774.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "ENST00000899775.1",
"protein_id": "ENSP00000569834.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899775.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "ENST00000929646.1",
"protein_id": "ENSP00000599705.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929646.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "ENST00000929647.1",
"protein_id": "ENSP00000599706.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929647.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "ENST00000929648.1",
"protein_id": "ENSP00000599707.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929648.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "ENST00000958732.1",
"protein_id": "ENSP00000628791.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958732.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "ENST00000958733.1",
"protein_id": "ENSP00000628792.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958733.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"transcript": "ENST00000958734.1",
"protein_id": "ENSP00000628793.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 516,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958734.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269825",
"gene_hgnc_id": null,
"hgvs_c": "c.*1656G>C",
"hgvs_p": null,
"transcript": "ENST00000687234.1",
"protein_id": "ENSP00000509087.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 83,
"cds_start": null,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687234.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269825",
"gene_hgnc_id": null,
"hgvs_c": "n.*1756G>C",
"hgvs_p": null,
"transcript": "ENST00000594682.6",
"protein_id": "ENSP00000472147.2",
"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": "ENST00000594682.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269825",
"gene_hgnc_id": null,
"hgvs_c": "n.*1848G>C",
"hgvs_p": null,
"transcript": "ENST00000706195.1",
"protein_id": "ENSP00000516270.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000706195.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269825",
"gene_hgnc_id": null,
"hgvs_c": "n.*1756G>C",
"hgvs_p": null,
"transcript": "ENST00000706196.1",
"protein_id": "ENSP00000516271.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000706196.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269825",
"gene_hgnc_id": null,
"hgvs_c": "n.1898G>C",
"hgvs_p": null,
"transcript": "ENST00000706197.2",
"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": "ENST00000706197.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269825",
"gene_hgnc_id": null,
"hgvs_c": "n.*2027G>C",
"hgvs_p": null,
"transcript": "ENST00000706198.1",
"protein_id": "ENSP00000516273.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000706198.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269825",
"gene_hgnc_id": null,
"hgvs_c": "n.*1756G>C",
"hgvs_p": null,
"transcript": "ENST00000594682.6",
"protein_id": "ENSP00000472147.2",
"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": "ENST00000594682.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269825",
"gene_hgnc_id": null,
"hgvs_c": "n.*1848G>C",
"hgvs_p": null,
"transcript": "ENST00000706195.1",
"protein_id": "ENSP00000516270.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000706195.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269825",
"gene_hgnc_id": null,
"hgvs_c": "n.*1756G>C",
"hgvs_p": null,
"transcript": "ENST00000706196.1",
"protein_id": "ENSP00000516271.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000706196.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269825",
"gene_hgnc_id": null,
"hgvs_c": "n.*2027G>C",
"hgvs_p": null,
"transcript": "ENST00000706198.1",
"protein_id": "ENSP00000516273.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000706198.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269825",
"gene_hgnc_id": null,
"hgvs_c": "n.*257+1499G>C",
"hgvs_p": null,
"transcript": "ENST00000600714.6",
"protein_id": "ENSP00000472392.2",
"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": "ENST00000600714.6"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269825",
"gene_hgnc_id": null,
"hgvs_c": "n.*117+5777G>C",
"hgvs_p": null,
"transcript": "ENST00000601257.5",
"protein_id": "ENSP00000471703.2",
"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": "ENST00000601257.5"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000290073",
"gene_hgnc_id": null,
"hgvs_c": "n.84-7940C>G",
"hgvs_p": null,
"transcript": "ENST00000702778.2",
"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": "ENST00000702778.2"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000290073",
"gene_hgnc_id": null,
"hgvs_c": "n.98-7940C>G",
"hgvs_p": null,
"transcript": "ENST00000721032.1",
"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": "ENST00000721032.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC137778871",
"gene_hgnc_id": null,
"hgvs_c": "n.56-7940C>G",
"hgvs_p": null,
"transcript": "NR_197422.1",
"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": "NR_197422.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC137778871",
"gene_hgnc_id": null,
"hgvs_c": "n.56-7940C>G",
"hgvs_p": null,
"transcript": "NR_197423.1",
"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": "NR_197423.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC137778871",
"gene_hgnc_id": null,
"hgvs_c": "n.56-7940C>G",
"hgvs_p": null,
"transcript": "NR_197424.1",
"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": "NR_197424.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC137778871",
"gene_hgnc_id": null,
"hgvs_c": "n.56-7940C>G",
"hgvs_p": null,
"transcript": "NR_197425.1",
"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": "NR_197425.1"
}
],
"gene_symbol": "ZNF83",
"gene_hgnc_id": 13158,
"dbsnp": "rs766361238",
"frequency_reference_population": 0.00015383432,
"hom_count_reference_population": 0,
"allele_count_reference_population": 248,
"gnomad_exomes_af": 0.000154643,
"gnomad_genomes_af": 0.000145993,
"gnomad_exomes_ac": 226,
"gnomad_genomes_ac": 22,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.083526611328125,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.013,
"revel_prediction": "Benign",
"alphamissense_score": 0.7288,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.882,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_018300.4",
"gene_symbol": "ZNF83",
"hgnc_id": 13158,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000687234.1",
"gene_symbol": "ENSG00000269825",
"hgnc_id": null,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*1656G>C",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NR_197422.1",
"gene_symbol": "LOC137778871",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.56-7940C>G",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000702778.2",
"gene_symbol": "ENSG00000290073",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.84-7940C>G",
"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
}