← 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: 9-34659834-CGG-GGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=34659834&ref=CGG&alt=GGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IL11RA",
"hgnc_id": 5967,
"hgvs_c": "c.886_888delCGGinsGGA",
"hgvs_p": "p.Arg296Gly",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001142784.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000258728",
"hgnc_id": null,
"hgvs_c": "n.*3271_*3273delCGGinsGGA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000691183.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM5",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1722,
"cdna_start": 935,
"cds_end": null,
"cds_length": 1269,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001142784.3",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.886_888delCGGinsGGA",
"hgvs_p": "p.Arg296Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000441545.7",
"protein_coding": true,
"protein_id": "NP_001136256.1",
"strand": true,
"transcript": "NM_001142784.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1722,
"cdna_start": 935,
"cds_end": null,
"cds_length": 1269,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000441545.7",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.886_888delCGGinsGGA",
"hgvs_p": "p.Arg296Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001142784.3",
"protein_coding": true,
"protein_id": "ENSP00000394391.3",
"strand": true,
"transcript": "ENST00000441545.7",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1728,
"cdna_start": 951,
"cds_end": null,
"cds_length": 1269,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000318041.13",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.886_888delCGGinsGGA",
"hgvs_p": "p.Arg296Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000326500.8",
"strand": true,
"transcript": "ENST00000318041.13",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 390,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1388,
"cdna_start": 886,
"cds_end": null,
"cds_length": 1173,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000602473.5",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.886_888delCGGinsGGA",
"hgvs_p": "p.Arg296Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473647.1",
"strand": true,
"transcript": "ENST00000602473.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 477,
"aa_ref": "R",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3209,
"cdna_start": 2438,
"cds_end": null,
"cds_length": 1434,
"cds_start": 1051,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957059.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.1051_1053delCGGinsGGA",
"hgvs_p": "p.Arg351Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627118.1",
"strand": true,
"transcript": "ENST00000957059.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 430,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1716,
"cdna_start": 945,
"cds_end": null,
"cds_length": 1293,
"cds_start": 910,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957054.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.910_912delCGGinsGGA",
"hgvs_p": "p.Arg304Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627113.1",
"strand": true,
"transcript": "ENST00000957054.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 427,
"aa_ref": "R",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1710,
"cdna_start": 931,
"cds_end": null,
"cds_length": 1284,
"cds_start": 901,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902566.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.901_903delCGGinsGGA",
"hgvs_p": "p.Arg301Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572625.1",
"strand": true,
"transcript": "ENST00000902566.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 427,
"aa_ref": "R",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1793,
"cdna_start": 1027,
"cds_end": null,
"cds_length": 1284,
"cds_start": 901,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957061.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.901_903delCGGinsGGA",
"hgvs_p": "p.Arg301Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627120.1",
"strand": true,
"transcript": "ENST00000957061.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 426,
"aa_ref": "R",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1734,
"cdna_start": 947,
"cds_end": null,
"cds_length": 1281,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000555003.6",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.898_900delCGGinsGGA",
"hgvs_p": "p.Arg300Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450565.2",
"strand": true,
"transcript": "ENST00000555003.6",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 426,
"aa_ref": "R",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2071,
"cdna_start": 1306,
"cds_end": null,
"cds_length": 1281,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902558.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.898_900delCGGinsGGA",
"hgvs_p": "p.Arg300Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572617.1",
"strand": true,
"transcript": "ENST00000902558.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 426,
"aa_ref": "R",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1740,
"cdna_start": 953,
"cds_end": null,
"cds_length": 1281,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902560.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.898_900delCGGinsGGA",
"hgvs_p": "p.Arg300Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572619.1",
"strand": true,
"transcript": "ENST00000902560.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 426,
"aa_ref": "R",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1824,
"cdna_start": 1037,
"cds_end": null,
"cds_length": 1281,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902561.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.898_900delCGGinsGGA",
"hgvs_p": "p.Arg300Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572620.1",
"strand": true,
"transcript": "ENST00000902561.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 426,
"aa_ref": "R",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1807,
"cdna_start": 1042,
"cds_end": null,
"cds_length": 1281,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902569.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.898_900delCGGinsGGA",
"hgvs_p": "p.Arg300Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572628.1",
"strand": true,
"transcript": "ENST00000902569.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 426,
"aa_ref": "R",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1777,
"cdna_start": 1005,
"cds_end": null,
"cds_length": 1281,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902571.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.898_900delCGGinsGGA",
"hgvs_p": "p.Arg300Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572629.1",
"strand": true,
"transcript": "ENST00000902571.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 426,
"aa_ref": "R",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2922,
"cdna_start": 2151,
"cds_end": null,
"cds_length": 1281,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957058.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.898_900delCGGinsGGA",
"hgvs_p": "p.Arg300Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627117.1",
"strand": true,
"transcript": "ENST00000957058.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 426,
"aa_ref": "R",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2379,
"cdna_start": 1599,
"cds_end": null,
"cds_length": 1281,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957065.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.898_900delCGGinsGGA",
"hgvs_p": "p.Arg300Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627124.1",
"strand": true,
"transcript": "ENST00000957065.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 425,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1740,
"cdna_start": 956,
"cds_end": null,
"cds_length": 1278,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957051.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.895_897delCGGinsGGA",
"hgvs_p": "p.Arg299Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627110.1",
"strand": true,
"transcript": "ENST00000957051.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1705,
"cdna_start": 940,
"cds_end": null,
"cds_length": 1275,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957053.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.898_900delCGGinsGGA",
"hgvs_p": "p.Arg300Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627112.1",
"strand": true,
"transcript": "ENST00000957053.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1305,
"cdna_start": 922,
"cds_end": null,
"cds_length": 1269,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000555981.6",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.886_888delCGGinsGGA",
"hgvs_p": "p.Arg296Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450640.2",
"strand": true,
"transcript": "ENST00000555981.6",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1771,
"cdna_start": 1000,
"cds_end": null,
"cds_length": 1269,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000690286.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.886_888delCGGinsGGA",
"hgvs_p": "p.Arg296Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509204.1",
"strand": true,
"transcript": "ENST00000690286.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2128,
"cdna_start": 1362,
"cds_end": null,
"cds_length": 1269,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926823.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.886_888delCGGinsGGA",
"hgvs_p": "p.Arg296Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596882.1",
"strand": true,
"transcript": "ENST00000926823.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2080,
"cdna_start": 1300,
"cds_end": null,
"cds_length": 1269,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957056.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.886_888delCGGinsGGA",
"hgvs_p": "p.Arg296Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627115.1",
"strand": true,
"transcript": "ENST00000957056.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1702,
"cdna_start": 918,
"cds_end": null,
"cds_length": 1269,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957057.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.886_888delCGGinsGGA",
"hgvs_p": "p.Arg296Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627116.1",
"strand": true,
"transcript": "ENST00000957057.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1878,
"cdna_start": 1091,
"cds_end": null,
"cds_length": 1269,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957060.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.886_888delCGGinsGGA",
"hgvs_p": "p.Arg296Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627119.1",
"strand": true,
"transcript": "ENST00000957060.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2292,
"cdna_start": 1523,
"cds_end": null,
"cds_length": 1269,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957063.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.886_888delCGGinsGGA",
"hgvs_p": "p.Arg296Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627122.1",
"strand": true,
"transcript": "ENST00000957063.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1786,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 1269,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957066.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.886_888delCGGinsGGA",
"hgvs_p": "p.Arg296Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627125.1",
"strand": true,
"transcript": "ENST00000957066.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1694,
"cdna_start": 913,
"cds_end": null,
"cds_length": 1266,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902565.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.883_885delCGGinsGGA",
"hgvs_p": "p.Arg295Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572624.1",
"strand": true,
"transcript": "ENST00000902565.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1741,
"cdna_start": 962,
"cds_end": null,
"cds_length": 1266,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957049.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.886_888delCGGinsGGA",
"hgvs_p": "p.Arg296Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627108.1",
"strand": true,
"transcript": "ENST00000957049.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 420,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1707,
"cdna_start": 938,
"cds_end": null,
"cds_length": 1263,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902563.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.886_888delCGGinsGGA",
"hgvs_p": "p.Arg296Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572622.1",
"strand": true,
"transcript": "ENST00000902563.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 420,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1712,
"cdna_start": 946,
"cds_end": null,
"cds_length": 1263,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957062.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.886_888delCGGinsGGA",
"hgvs_p": "p.Arg296Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627121.1",
"strand": true,
"transcript": "ENST00000957062.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 411,
"aa_ref": "R",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1668,
"cdna_start": 901,
"cds_end": null,
"cds_length": 1236,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902564.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.853_855delCGGinsGGA",
"hgvs_p": "p.Arg285Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572623.1",
"strand": true,
"transcript": "ENST00000902564.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 410,
"aa_ref": "R",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1697,
"cdna_start": 910,
"cds_end": null,
"cds_length": 1233,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902559.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.850_852delCGGinsGGA",
"hgvs_p": "p.Arg284Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572618.1",
"strand": true,
"transcript": "ENST00000902559.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 410,
"aa_ref": "R",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1677,
"cdna_start": 902,
"cds_end": null,
"cds_length": 1233,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902568.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.850_852delCGGinsGGA",
"hgvs_p": "p.Arg284Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572627.1",
"strand": true,
"transcript": "ENST00000902568.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 410,
"aa_ref": "R",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1700,
"cdna_start": 936,
"cds_end": null,
"cds_length": 1233,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902574.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.850_852delCGGinsGGA",
"hgvs_p": "p.Arg284Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572632.1",
"strand": true,
"transcript": "ENST00000902574.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 410,
"aa_ref": "R",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1775,
"cdna_start": 995,
"cds_end": null,
"cds_length": 1233,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957052.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.850_852delCGGinsGGA",
"hgvs_p": "p.Arg284Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627111.1",
"strand": true,
"transcript": "ENST00000957052.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 410,
"aa_ref": "R",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2763,
"cdna_start": 1978,
"cds_end": null,
"cds_length": 1233,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957064.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.850_852delCGGinsGGA",
"hgvs_p": "p.Arg284Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627123.1",
"strand": true,
"transcript": "ENST00000957064.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 408,
"aa_ref": "R",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1643,
"cdna_start": 884,
"cds_end": null,
"cds_length": 1227,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902567.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.850_852delCGGinsGGA",
"hgvs_p": "p.Arg284Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572626.1",
"strand": true,
"transcript": "ENST00000902567.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 404,
"aa_ref": "R",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1719,
"cdna_start": 937,
"cds_end": null,
"cds_length": 1215,
"cds_start": 832,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957047.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.832_834delCGGinsGGA",
"hgvs_p": "p.Arg278Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627106.1",
"strand": true,
"transcript": "ENST00000957047.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 394,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1639,
"cdna_start": 935,
"cds_end": null,
"cds_length": 1186,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000556531.6",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.886_888delCGGinsGGA",
"hgvs_p": "p.Arg296Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451447.2",
"strand": true,
"transcript": "ENST00000556531.6",
"transcript_support_level": 4
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 394,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1662,
"cdna_start": 973,
"cds_end": null,
"cds_length": 1186,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902572.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.886_888delCGGinsGGA",
"hgvs_p": "p.Arg296Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572631.1",
"strand": true,
"transcript": "ENST00000902572.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 394,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1742,
"cdna_start": 1042,
"cds_end": null,
"cds_length": 1186,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957050.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.886_888delCGGinsGGA",
"hgvs_p": "p.Arg296Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627109.1",
"strand": true,
"transcript": "ENST00000957050.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 382,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1603,
"cdna_start": 939,
"cds_end": null,
"cds_length": 1149,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902562.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.886_888delCGGinsGGA",
"hgvs_p": "p.Arg296Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572621.1",
"strand": true,
"transcript": "ENST00000902562.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 345,
"aa_ref": "R",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1072,
"cdna_start": 689,
"cds_end": null,
"cds_length": 1038,
"cds_start": 655,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000553620.6",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.655_657delCGGinsGGA",
"hgvs_p": "p.Arg219Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452207.2",
"strand": true,
"transcript": "ENST00000553620.6",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 332,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1488,
"cdna_start": 715,
"cds_end": null,
"cds_length": 999,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957048.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.616_618delCGGinsGGA",
"hgvs_p": "p.Arg206Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627107.1",
"strand": true,
"transcript": "ENST00000957048.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 327,
"aa_ref": "R",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1406,
"cdna_start": 635,
"cds_end": null,
"cds_length": 984,
"cds_start": 601,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957055.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "c.601_603delCGGinsGGA",
"hgvs_p": "p.Arg201Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627114.1",
"strand": true,
"transcript": "ENST00000957055.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1476,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000466082.2",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "n.886_888delCGGinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432263.2",
"strand": true,
"transcript": "ENST00000466082.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2128,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000478308.2",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "n.1357_1359delCGGinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000478308.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1669,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000555247.5",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "n.*660_*662delCGGinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000450707.1",
"strand": true,
"transcript": "ENST00000555247.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1505,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000557298.5",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "n.*509_*511delCGGinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000451553.1",
"strand": true,
"transcript": "ENST00000557298.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2233,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000684861.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "n.1226_1228delCGGinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000684861.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1376,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000685278.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "n.605_607delCGGinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000685278.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1738,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000685430.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "n.*754_*756delCGGinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000510344.1",
"strand": true,
"transcript": "ENST00000685430.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1403,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000685662.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "n.1020_1022delCGGinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000685662.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2290,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000685768.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "n.1524_1526delCGGinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000685768.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1353,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000686794.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "n.582_584delCGGinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000686794.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1515,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000687192.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "n.752_754delCGGinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000687192.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2862,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000687770.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "n.2080_2082delCGGinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000687770.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4479,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000691183.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000258728",
"hgvs_c": "n.*3271_*3273delCGGinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000509954.1",
"strand": true,
"transcript": "ENST00000691183.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1959,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000692291.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "n.934_936delCGGinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000692291.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2024,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000692530.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "n.1253_1255delCGGinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000692530.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2462,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000692788.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "n.*660_*662delCGGinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000510222.1",
"strand": true,
"transcript": "ENST00000692788.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1760,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NR_052010.2",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "n.973_975delCGGinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_052010.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1669,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000555247.5",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "n.*660_*662delCGGinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000450707.1",
"strand": true,
"transcript": "ENST00000555247.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1505,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000557298.5",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "n.*509_*511delCGGinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000451553.1",
"strand": true,
"transcript": "ENST00000557298.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1738,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000685430.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "n.*754_*756delCGGinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000510344.1",
"strand": true,
"transcript": "ENST00000685430.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4479,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000691183.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000258728",
"hgvs_c": "n.*3271_*3273delCGGinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000509954.1",
"strand": true,
"transcript": "ENST00000691183.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2462,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000692788.1",
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"hgvs_c": "n.*660_*662delCGGinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000510222.1",
"strand": true,
"transcript": "ENST00000692788.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 5967,
"gene_symbol": "IL11RA",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.554,
"pos": 34659834,
"ref": "CGG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001142784.3"
}
]
}