← 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: 1-9710463-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=9710463&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PIK3CD",
"hgnc_id": 8977,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"inheritance_mode": "Unknown,AD,AR",
"pathogenic_score": 0,
"score": -1,
"transcript": "NM_005026.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_score": -1,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": 0.1911,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.19,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Immunodeficiency 14,Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.37088698148727417,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5412,
"cdna_start": 217,
"cds_end": null,
"cds_length": 3135,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_005026.5",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000377346.9",
"protein_coding": true,
"protein_id": "NP_005017.3",
"strand": true,
"transcript": "NM_005026.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5412,
"cdna_start": 217,
"cds_end": null,
"cds_length": 3135,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000377346.9",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005026.5",
"protein_coding": true,
"protein_id": "ENSP00000366563.4",
"strand": true,
"transcript": "ENST00000377346.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3508,
"cdna_start": 123,
"cds_end": null,
"cds_length": 3207,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000361110.6",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354410.2",
"strand": true,
"transcript": "ENST00000361110.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5373,
"cdna_start": 204,
"cds_end": null,
"cds_length": 3312,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000892288.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562347.1",
"strand": true,
"transcript": "ENST00000892288.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5661,
"cdna_start": 489,
"cds_end": null,
"cds_length": 3312,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000960482.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630541.1",
"strand": true,
"transcript": "ENST00000960482.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5307,
"cdna_start": 112,
"cds_end": null,
"cds_length": 3135,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001437546.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424475.1",
"strand": true,
"transcript": "NM_001437546.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5061,
"cdna_start": 74,
"cds_end": null,
"cds_length": 3135,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000698712.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513889.1",
"strand": true,
"transcript": "ENST00000698712.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5307,
"cdna_start": 320,
"cds_end": null,
"cds_length": 3135,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000698713.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513890.1",
"strand": true,
"transcript": "ENST00000698713.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5373,
"cdna_start": 367,
"cds_end": null,
"cds_length": 3135,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000892287.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562346.1",
"strand": true,
"transcript": "ENST00000892287.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5371,
"cdna_start": 365,
"cds_end": null,
"cds_length": 3135,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000892289.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562348.1",
"strand": true,
"transcript": "ENST00000892289.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6729,
"cdna_start": 531,
"cds_end": null,
"cds_length": 3135,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000932635.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602694.1",
"strand": true,
"transcript": "ENST00000932635.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5968,
"cdna_start": 962,
"cds_end": null,
"cds_length": 3135,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000932636.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602695.1",
"strand": true,
"transcript": "ENST00000932636.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5491,
"cdna_start": 485,
"cds_end": null,
"cds_length": 3135,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000932638.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602697.1",
"strand": true,
"transcript": "ENST00000932638.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5391,
"cdna_start": 385,
"cds_end": null,
"cds_length": 3135,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000960479.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630538.1",
"strand": true,
"transcript": "ENST00000960479.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5370,
"cdna_start": 369,
"cds_end": null,
"cds_length": 3135,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000960481.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630540.1",
"strand": true,
"transcript": "ENST00000960481.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5515,
"cdna_start": 323,
"cds_end": null,
"cds_length": 3132,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001350234.2",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337163.1",
"strand": true,
"transcript": "NM_001350234.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5409,
"cdna_start": 217,
"cds_end": null,
"cds_length": 3132,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001439206.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426135.1",
"strand": true,
"transcript": "NM_001439206.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5184,
"cdna_start": 200,
"cds_end": null,
"cds_length": 3132,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000698710.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513888.1",
"strand": true,
"transcript": "ENST00000698710.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5281,
"cdna_start": 297,
"cds_end": null,
"cds_length": 3132,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000698715.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513892.1",
"strand": true,
"transcript": "ENST00000698715.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5317,
"cdna_start": 328,
"cds_end": null,
"cds_length": 3132,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000932637.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602696.1",
"strand": true,
"transcript": "ENST00000932637.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3804,
"cdna_start": 129,
"cds_end": null,
"cds_length": 3123,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000698716.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513893.1",
"strand": true,
"transcript": "ENST00000698716.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1015,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5064,
"cdna_start": 145,
"cds_end": null,
"cds_length": 3048,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001350235.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337164.1",
"strand": true,
"transcript": "NM_001350235.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1015,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5233,
"cdna_start": 314,
"cds_end": null,
"cds_length": 3048,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000892290.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562349.1",
"strand": true,
"transcript": "ENST00000892290.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1015,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5088,
"cdna_start": 169,
"cds_end": null,
"cds_length": 3048,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000932639.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602698.1",
"strand": true,
"transcript": "ENST00000932639.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1015,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5130,
"cdna_start": 218,
"cds_end": null,
"cds_length": 3048,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000960480.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630539.1",
"strand": true,
"transcript": "ENST00000960480.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5095,
"cdna_start": 204,
"cds_end": null,
"cds_length": 3039,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000698709.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513887.1",
"strand": true,
"transcript": "ENST00000698709.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 996,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5268,
"cdna_start": 217,
"cds_end": null,
"cds_length": 2991,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001437547.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424476.1",
"strand": true,
"transcript": "NM_001437547.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 996,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5374,
"cdna_start": 323,
"cds_end": null,
"cds_length": 2991,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001438338.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425267.1",
"strand": true,
"transcript": "NM_001438338.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 996,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5157,
"cdna_start": 314,
"cds_end": null,
"cds_length": 2991,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000698714.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513891.1",
"strand": true,
"transcript": "ENST00000698714.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 50,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 544,
"cdna_start": 397,
"cds_end": null,
"cds_length": 155,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000698707.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513885.1",
"strand": true,
"transcript": "ENST00000698707.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5518,
"cdna_start": 323,
"cds_end": null,
"cds_length": 3135,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_006710687.3",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006710750.1",
"strand": true,
"transcript": "XM_006710687.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6021,
"cdna_start": 826,
"cds_end": null,
"cds_length": 3135,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047422550.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278506.1",
"strand": true,
"transcript": "XM_047422550.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5592,
"cdna_start": 397,
"cds_end": null,
"cds_length": 3135,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047422551.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278507.1",
"strand": true,
"transcript": "XM_047422551.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5575,
"cdna_start": 380,
"cds_end": null,
"cds_length": 3135,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047422552.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278508.1",
"strand": true,
"transcript": "XM_047422552.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5510,
"cdna_start": 315,
"cds_end": null,
"cds_length": 3135,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047422553.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278509.1",
"strand": true,
"transcript": "XM_047422553.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5588,
"cdna_start": 393,
"cds_end": null,
"cds_length": 3135,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047422554.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278510.1",
"strand": true,
"transcript": "XM_047422554.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5768,
"cdna_start": 573,
"cds_end": null,
"cds_length": 3135,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047422555.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278511.1",
"strand": true,
"transcript": "XM_047422555.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6197,
"cdna_start": 1002,
"cds_end": null,
"cds_length": 3135,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047422556.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278512.1",
"strand": true,
"transcript": "XM_047422556.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5933,
"cdna_start": 738,
"cds_end": null,
"cds_length": 3135,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047422557.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278513.1",
"strand": true,
"transcript": "XM_047422557.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6354,
"cdna_start": 1159,
"cds_end": null,
"cds_length": 3135,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047422558.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278514.1",
"strand": true,
"transcript": "XM_047422558.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5501,
"cdna_start": 306,
"cds_end": null,
"cds_length": 3135,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047422559.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278515.1",
"strand": true,
"transcript": "XM_047422559.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5335,
"cdna_start": 140,
"cds_end": null,
"cds_length": 3135,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047422560.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278516.1",
"strand": true,
"transcript": "XM_047422560.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5589,
"cdna_start": 397,
"cds_end": null,
"cds_length": 3132,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047422561.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278517.1",
"strand": true,
"transcript": "XM_047422561.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5572,
"cdna_start": 380,
"cds_end": null,
"cds_length": 3132,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047422562.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278518.1",
"strand": true,
"transcript": "XM_047422562.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6018,
"cdna_start": 826,
"cds_end": null,
"cds_length": 3132,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047422563.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278519.1",
"strand": true,
"transcript": "XM_047422563.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5585,
"cdna_start": 393,
"cds_end": null,
"cds_length": 3132,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047422564.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278520.1",
"strand": true,
"transcript": "XM_047422564.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5304,
"cdna_start": 112,
"cds_end": null,
"cds_length": 3132,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047422565.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278521.1",
"strand": true,
"transcript": "XM_047422565.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1015,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5325,
"cdna_start": 217,
"cds_end": null,
"cds_length": 3048,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_024447664.2",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024303432.1",
"strand": true,
"transcript": "XM_024447664.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1015,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5431,
"cdna_start": 323,
"cds_end": null,
"cds_length": 3048,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047422566.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278522.1",
"strand": true,
"transcript": "XM_047422566.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1015,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6081,
"cdna_start": 973,
"cds_end": null,
"cds_length": 3048,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047422567.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278523.1",
"strand": true,
"transcript": "XM_047422567.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1015,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5501,
"cdna_start": 393,
"cds_end": null,
"cds_length": 3048,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047422568.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278524.1",
"strand": true,
"transcript": "XM_047422568.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1015,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5220,
"cdna_start": 112,
"cds_end": null,
"cds_length": 3048,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047422569.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278525.1",
"strand": true,
"transcript": "XM_047422569.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1014,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5428,
"cdna_start": 323,
"cds_end": null,
"cds_length": 3045,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047422570.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278526.1",
"strand": true,
"transcript": "XM_047422570.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1014,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5322,
"cdna_start": 217,
"cds_end": null,
"cds_length": 3045,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047422571.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278527.1",
"strand": true,
"transcript": "XM_047422571.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1014,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5931,
"cdna_start": 826,
"cds_end": null,
"cds_length": 3045,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047422572.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278528.1",
"strand": true,
"transcript": "XM_047422572.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1014,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5498,
"cdna_start": 393,
"cds_end": null,
"cds_length": 3045,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047422573.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278529.1",
"strand": true,
"transcript": "XM_047422573.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 996,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5431,
"cdna_start": 380,
"cds_end": null,
"cds_length": 2991,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047422576.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278532.1",
"strand": true,
"transcript": "XM_047422576.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 996,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5163,
"cdna_start": 112,
"cds_end": null,
"cds_length": 2991,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047422577.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278533.1",
"strand": true,
"transcript": "XM_047422577.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 995,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5265,
"cdna_start": 217,
"cds_end": null,
"cds_length": 2988,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047422578.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278534.1",
"strand": true,
"transcript": "XM_047422578.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 899,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2949,
"cdna_start": 217,
"cds_end": null,
"cds_length": 2700,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047422580.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278536.1",
"strand": true,
"transcript": "XM_047422580.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 652,
"aa_ref": "P",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2168,
"cdna_start": 217,
"cds_end": null,
"cds_length": 1959,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047422589.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Pro3Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278545.1",
"strand": true,
"transcript": "XM_047422589.1",
"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": 5364,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000481137.2",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "n.8C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000513886.1",
"strand": true,
"transcript": "ENST00000481137.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 525,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000698706.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "n.259C>T",
"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": "ENST00000698706.1",
"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": 632,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000698708.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "n.216C>T",
"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": "ENST00000698708.1",
"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": 1545,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000698711.1",
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"hgvs_c": "n.361C>T",
"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": "ENST00000698711.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs780051553",
"effect": "missense_variant",
"frequency_reference_population": 0.000004337239,
"gene_hgnc_id": 8977,
"gene_symbol": "PIK3CD",
"gnomad_exomes_ac": 6,
"gnomad_exomes_af": 0.00000410447,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657419,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Immunodeficiency 14|Inborn genetic diseases|not provided",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.197,
"pos": 9710463,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.514,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_005026.5"
}
]
}