← 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: 3-138656256-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=138656256&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PIK3CB",
"hgnc_id": 8976,
"hgvs_c": "c.2961G>T",
"hgvs_p": "p.Glu987Asp",
"inheritance_mode": "AD",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_006219.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_score": 5,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9524,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.07,
"chr": "3",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "NK-cell enteropathy",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8528420925140381,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "E",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6259,
"cdna_start": 3316,
"cds_end": null,
"cds_length": 3213,
"cds_start": 2961,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_006219.3",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2961G>T",
"hgvs_p": "p.Glu987Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000674063.1",
"protein_coding": true,
"protein_id": "NP_006210.1",
"strand": false,
"transcript": "NM_006219.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "E",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6259,
"cdna_start": 3316,
"cds_end": null,
"cds_length": 3213,
"cds_start": 2961,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000674063.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2961G>T",
"hgvs_p": "p.Glu987Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006219.3",
"protein_coding": true,
"protein_id": "ENSP00000501150.1",
"strand": false,
"transcript": "ENST00000674063.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "E",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6154,
"cdna_start": 3211,
"cds_end": null,
"cds_length": 3213,
"cds_start": 2961,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001437286.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2961G>T",
"hgvs_p": "p.Glu987Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424215.1",
"strand": false,
"transcript": "NM_001437286.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "E",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6326,
"cdna_start": 3383,
"cds_end": null,
"cds_length": 3213,
"cds_start": 2961,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001437287.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2961G>T",
"hgvs_p": "p.Glu987Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424216.1",
"strand": false,
"transcript": "NM_001437287.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "E",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6486,
"cdna_start": 3543,
"cds_end": null,
"cds_length": 3213,
"cds_start": 2961,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001437288.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2961G>T",
"hgvs_p": "p.Glu987Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424217.1",
"strand": false,
"transcript": "NM_001437288.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "E",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6381,
"cdna_start": 3438,
"cds_end": null,
"cds_length": 3213,
"cds_start": 2961,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001437293.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2961G>T",
"hgvs_p": "p.Glu987Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424222.1",
"strand": false,
"transcript": "NM_001437293.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "E",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6340,
"cdna_start": 3035,
"cds_end": null,
"cds_length": 3213,
"cds_start": 2961,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000477593.6",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2961G>T",
"hgvs_p": "p.Glu987Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418143.1",
"strand": false,
"transcript": "ENST00000477593.6",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "E",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5061,
"cdna_start": 3443,
"cds_end": null,
"cds_length": 3213,
"cds_start": 2961,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000894539.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2961G>T",
"hgvs_p": "p.Glu987Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564598.1",
"strand": false,
"transcript": "ENST00000894539.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "E",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4749,
"cdna_start": 3543,
"cds_end": null,
"cds_length": 3213,
"cds_start": 2961,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000894543.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2961G>T",
"hgvs_p": "p.Glu987Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564602.1",
"strand": false,
"transcript": "ENST00000894543.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "E",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4342,
"cdna_start": 3416,
"cds_end": null,
"cds_length": 3213,
"cds_start": 2961,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000894546.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2961G>T",
"hgvs_p": "p.Glu987Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564605.1",
"strand": false,
"transcript": "ENST00000894546.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "E",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5021,
"cdna_start": 3398,
"cds_end": null,
"cds_length": 3213,
"cds_start": 2961,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000938763.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2961G>T",
"hgvs_p": "p.Glu987Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608822.1",
"strand": false,
"transcript": "ENST00000938763.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "E",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5058,
"cdna_start": 3439,
"cds_end": null,
"cds_length": 3213,
"cds_start": 2961,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000938766.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2961G>T",
"hgvs_p": "p.Glu987Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608825.1",
"strand": false,
"transcript": "ENST00000938766.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "E",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4950,
"cdna_start": 3326,
"cds_end": null,
"cds_length": 3213,
"cds_start": 2961,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000938769.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2961G>T",
"hgvs_p": "p.Glu987Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608828.1",
"strand": false,
"transcript": "ENST00000938769.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "E",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5050,
"cdna_start": 3431,
"cds_end": null,
"cds_length": 3213,
"cds_start": 2961,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000955024.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2961G>T",
"hgvs_p": "p.Glu987Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625083.1",
"strand": false,
"transcript": "ENST00000955024.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "E",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4920,
"cdna_start": 3303,
"cds_end": null,
"cds_length": 3213,
"cds_start": 2961,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000955025.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2961G>T",
"hgvs_p": "p.Glu987Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625084.1",
"strand": false,
"transcript": "ENST00000955025.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "E",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4835,
"cdna_start": 3210,
"cds_end": null,
"cds_length": 3213,
"cds_start": 2961,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000955028.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2961G>T",
"hgvs_p": "p.Glu987Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625087.1",
"strand": false,
"transcript": "ENST00000955028.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "E",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4619,
"cdna_start": 3472,
"cds_end": null,
"cds_length": 3213,
"cds_start": 2961,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000955030.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2961G>T",
"hgvs_p": "p.Glu987Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625089.1",
"strand": false,
"transcript": "ENST00000955030.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1069,
"aa_ref": "E",
"aa_start": 986,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4891,
"cdna_start": 3270,
"cds_end": null,
"cds_length": 3210,
"cds_start": 2958,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000894542.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2958G>T",
"hgvs_p": "p.Glu986Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564601.1",
"strand": false,
"transcript": "ENST00000894542.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1056,
"aa_ref": "E",
"aa_start": 973,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4886,
"cdna_start": 3268,
"cds_end": null,
"cds_length": 3171,
"cds_start": 2919,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000894540.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2919G>T",
"hgvs_p": "p.Glu973Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564599.1",
"strand": false,
"transcript": "ENST00000894540.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1056,
"aa_ref": "E",
"aa_start": 973,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4771,
"cdna_start": 3158,
"cds_end": null,
"cds_length": 3171,
"cds_start": 2919,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000955027.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2919G>T",
"hgvs_p": "p.Glu973Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625085.1",
"strand": false,
"transcript": "ENST00000955027.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1053,
"aa_ref": "E",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6208,
"cdna_start": 3265,
"cds_end": null,
"cds_length": 3162,
"cds_start": 2910,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001437289.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2910G>T",
"hgvs_p": "p.Glu970Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424218.1",
"strand": false,
"transcript": "NM_001437289.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1053,
"aa_ref": "E",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6103,
"cdna_start": 3160,
"cds_end": null,
"cds_length": 3162,
"cds_start": 2910,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001437290.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2910G>T",
"hgvs_p": "p.Glu970Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424219.1",
"strand": false,
"transcript": "NM_001437290.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1053,
"aa_ref": "E",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6435,
"cdna_start": 3492,
"cds_end": null,
"cds_length": 3162,
"cds_start": 2910,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001437291.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2910G>T",
"hgvs_p": "p.Glu970Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424220.1",
"strand": false,
"transcript": "NM_001437291.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1053,
"aa_ref": "E",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6275,
"cdna_start": 3332,
"cds_end": null,
"cds_length": 3162,
"cds_start": 2910,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001437292.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2910G>T",
"hgvs_p": "p.Glu970Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424221.1",
"strand": false,
"transcript": "NM_001437292.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "E",
"aa_start": 960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4882,
"cdna_start": 3259,
"cds_end": null,
"cds_length": 3132,
"cds_start": 2880,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000938758.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2880G>T",
"hgvs_p": "p.Glu960Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608817.1",
"strand": false,
"transcript": "ENST00000938758.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "E",
"aa_start": 960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4774,
"cdna_start": 3151,
"cds_end": null,
"cds_length": 3132,
"cds_start": 2880,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000938759.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2880G>T",
"hgvs_p": "p.Glu960Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608818.1",
"strand": false,
"transcript": "ENST00000938759.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "E",
"aa_start": 959,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4735,
"cdna_start": 3114,
"cds_end": null,
"cds_length": 3129,
"cds_start": 2877,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000938760.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2877G>T",
"hgvs_p": "p.Glu959Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608819.1",
"strand": false,
"transcript": "ENST00000938760.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1026,
"aa_ref": "E",
"aa_start": 943,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4758,
"cdna_start": 3140,
"cds_end": null,
"cds_length": 3081,
"cds_start": 2829,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000938768.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2829G>T",
"hgvs_p": "p.Glu943Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608827.1",
"strand": false,
"transcript": "ENST00000938768.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1010,
"aa_ref": "E",
"aa_start": 927,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4736,
"cdna_start": 3117,
"cds_end": null,
"cds_length": 3033,
"cds_start": 2781,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000938761.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2781G>T",
"hgvs_p": "p.Glu927Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608820.1",
"strand": false,
"transcript": "ENST00000938761.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1010,
"aa_ref": "E",
"aa_start": 927,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4608,
"cdna_start": 2987,
"cds_end": null,
"cds_length": 3033,
"cds_start": 2781,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000938767.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2781G>T",
"hgvs_p": "p.Glu927Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608826.1",
"strand": false,
"transcript": "ENST00000938767.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1008,
"aa_ref": "E",
"aa_start": 925,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4634,
"cdna_start": 3013,
"cds_end": null,
"cds_length": 3027,
"cds_start": 2775,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000894541.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2775G>T",
"hgvs_p": "p.Glu925Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564600.1",
"strand": false,
"transcript": "ENST00000894541.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1008,
"aa_ref": "E",
"aa_start": 925,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4708,
"cdna_start": 3085,
"cds_end": null,
"cds_length": 3027,
"cds_start": 2775,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000938765.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2775G>T",
"hgvs_p": "p.Glu925Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608824.1",
"strand": false,
"transcript": "ENST00000938765.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 994,
"aa_ref": "E",
"aa_start": 911,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4194,
"cdna_start": 2945,
"cds_end": null,
"cds_length": 2985,
"cds_start": 2733,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000894544.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2733G>T",
"hgvs_p": "p.Glu911Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564603.1",
"strand": false,
"transcript": "ENST00000894544.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 948,
"aa_ref": "E",
"aa_start": 865,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4547,
"cdna_start": 2922,
"cds_end": null,
"cds_length": 2847,
"cds_start": 2595,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000938762.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2595G>T",
"hgvs_p": "p.Glu865Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608821.1",
"strand": false,
"transcript": "ENST00000938762.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 931,
"aa_ref": "E",
"aa_start": 848,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4477,
"cdna_start": 2856,
"cds_end": null,
"cds_length": 2796,
"cds_start": 2544,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000938764.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2544G>T",
"hgvs_p": "p.Glu848Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608823.1",
"strand": false,
"transcript": "ENST00000938764.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 914,
"aa_ref": "E",
"aa_start": 831,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3511,
"cdna_start": 2743,
"cds_end": null,
"cds_length": 2745,
"cds_start": 2493,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000894545.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2493G>T",
"hgvs_p": "p.Glu831Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564604.1",
"strand": false,
"transcript": "ENST00000894545.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 701,
"aa_ref": "E",
"aa_start": 618,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2347,
"cdna_start": 1856,
"cds_end": null,
"cds_length": 2106,
"cds_start": 1854,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000493568.5",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.1854G>T",
"hgvs_p": "p.Glu618Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417869.1",
"strand": false,
"transcript": "ENST00000493568.5",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 582,
"aa_ref": "E",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4786,
"cdna_start": 1843,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1497,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001256045.2",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.1497G>T",
"hgvs_p": "p.Glu499Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001242974.1",
"strand": false,
"transcript": "NM_001256045.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "E",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6323,
"cdna_start": 3380,
"cds_end": null,
"cds_length": 3213,
"cds_start": 2961,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047448307.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2961G>T",
"hgvs_p": "p.Glu987Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304263.1",
"strand": false,
"transcript": "XM_047448307.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "E",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6379,
"cdna_start": 3436,
"cds_end": null,
"cds_length": 3213,
"cds_start": 2961,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_047448309.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2961G>T",
"hgvs_p": "p.Glu987Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304265.1",
"strand": false,
"transcript": "XM_047448309.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "E",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6219,
"cdna_start": 3276,
"cds_end": null,
"cds_length": 3213,
"cds_start": 2961,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047448310.1",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "c.2961G>T",
"hgvs_p": "p.Glu987Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304266.1",
"strand": false,
"transcript": "XM_047448310.1",
"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": 4747,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000462898.5",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "n.*2530G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000420108.1",
"strand": false,
"transcript": "ENST00000462898.5",
"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": 3164,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000469284.6",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "n.*1438G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000419513.2",
"strand": false,
"transcript": "ENST00000469284.6",
"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": 2396,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000481749.5",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "n.1843G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000481749.5",
"transcript_support_level": 2
},
{
"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": 4747,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000462898.5",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "n.*2530G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000420108.1",
"strand": false,
"transcript": "ENST00000462898.5",
"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": 3164,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000469284.6",
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"hgvs_c": "n.*1438G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000419513.2",
"strand": false,
"transcript": "ENST00000469284.6",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1577033077",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 8976,
"gene_symbol": "PIK3CB",
"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": "Likely pathogenic",
"phenotype_combined": "NK-cell enteropathy",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.353,
"pos": 138656256,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.587,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_006219.3"
}
]
}