← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 19-52212959-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=52212959&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PPP2R1A",
"hgnc_id": 9302,
"hgvs_c": "c.656C>G",
"hgvs_p": "p.Ser219Trp",
"inheritance_mode": "AD",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_014225.6",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9996,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.07,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Houge-Janssens syndrome 2",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8805462121963501,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 589,
"aa_ref": "S",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5352,
"cdna_start": 701,
"cds_end": null,
"cds_length": 1770,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_014225.6",
"gene_hgnc_id": 9302,
"gene_symbol": "PPP2R1A",
"hgvs_c": "c.656C>G",
"hgvs_p": "p.Ser219Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000322088.11",
"protein_coding": true,
"protein_id": "NP_055040.2",
"strand": true,
"transcript": "NM_014225.6",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 589,
"aa_ref": "S",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5352,
"cdna_start": 701,
"cds_end": null,
"cds_length": 1770,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000322088.11",
"gene_hgnc_id": 9302,
"gene_symbol": "PPP2R1A",
"hgvs_c": "c.656C>G",
"hgvs_p": "p.Ser219Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014225.6",
"protein_coding": true,
"protein_id": "ENSP00000324804.6",
"strand": true,
"transcript": "ENST00000322088.11",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 629,
"aa_ref": "S",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2213,
"cdna_start": 822,
"cds_end": null,
"cds_length": 1890,
"cds_start": 776,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000454220.7",
"gene_hgnc_id": 9302,
"gene_symbol": "PPP2R1A",
"hgvs_c": "c.776C>G",
"hgvs_p": "p.Ser259Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391905.3",
"strand": true,
"transcript": "ENST00000454220.7",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 603,
"aa_ref": "S",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2229,
"cdna_start": 698,
"cds_end": null,
"cds_length": 1812,
"cds_start": 698,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000703398.1",
"gene_hgnc_id": 9302,
"gene_symbol": "PPP2R1A",
"hgvs_c": "c.698C>G",
"hgvs_p": "p.Ser233Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515288.1",
"strand": true,
"transcript": "ENST00000703398.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 591,
"aa_ref": "S",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2233,
"cdna_start": 679,
"cds_end": null,
"cds_length": 1776,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000960957.1",
"gene_hgnc_id": 9302,
"gene_symbol": "PPP2R1A",
"hgvs_c": "c.656C>G",
"hgvs_p": "p.Ser219Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631016.1",
"strand": true,
"transcript": "ENST00000960957.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 589,
"aa_ref": "S",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2297,
"cdna_start": 741,
"cds_end": null,
"cds_length": 1770,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000960954.1",
"gene_hgnc_id": 9302,
"gene_symbol": "PPP2R1A",
"hgvs_c": "c.656C>G",
"hgvs_p": "p.Ser219Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631013.1",
"strand": true,
"transcript": "ENST00000960954.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 588,
"aa_ref": "S",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2266,
"cdna_start": 720,
"cds_end": null,
"cds_length": 1767,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000861169.1",
"gene_hgnc_id": 9302,
"gene_symbol": "PPP2R1A",
"hgvs_c": "c.656C>G",
"hgvs_p": "p.Ser219Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531228.1",
"strand": true,
"transcript": "ENST00000861169.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 587,
"aa_ref": "S",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2300,
"cdna_start": 741,
"cds_end": null,
"cds_length": 1764,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000960953.1",
"gene_hgnc_id": 9302,
"gene_symbol": "PPP2R1A",
"hgvs_c": "c.656C>G",
"hgvs_p": "p.Ser219Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631012.1",
"strand": true,
"transcript": "ENST00000960953.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 582,
"aa_ref": "S",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2269,
"cdna_start": 739,
"cds_end": null,
"cds_length": 1749,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000925661.1",
"gene_hgnc_id": 9302,
"gene_symbol": "PPP2R1A",
"hgvs_c": "c.656C>G",
"hgvs_p": "p.Ser219Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595720.1",
"strand": true,
"transcript": "ENST00000925661.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 582,
"aa_ref": "S",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2260,
"cdna_start": 731,
"cds_end": null,
"cds_length": 1749,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000960955.1",
"gene_hgnc_id": 9302,
"gene_symbol": "PPP2R1A",
"hgvs_c": "c.656C>G",
"hgvs_p": "p.Ser219Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631014.1",
"strand": true,
"transcript": "ENST00000960955.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 581,
"aa_ref": "S",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1806,
"cdna_start": 692,
"cds_end": null,
"cds_length": 1746,
"cds_start": 632,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000703422.1",
"gene_hgnc_id": 9302,
"gene_symbol": "PPP2R1A",
"hgvs_c": "c.632C>G",
"hgvs_p": "p.Ser211Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515292.1",
"strand": true,
"transcript": "ENST00000703422.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 570,
"aa_ref": "S",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2235,
"cdna_start": 741,
"cds_end": null,
"cds_length": 1713,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000925660.1",
"gene_hgnc_id": 9302,
"gene_symbol": "PPP2R1A",
"hgvs_c": "c.656C>G",
"hgvs_p": "p.Ser219Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595719.1",
"strand": true,
"transcript": "ENST00000925660.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 555,
"aa_ref": "S",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2148,
"cdna_start": 701,
"cds_end": null,
"cds_length": 1668,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000861170.1",
"gene_hgnc_id": 9302,
"gene_symbol": "PPP2R1A",
"hgvs_c": "c.656C>G",
"hgvs_p": "p.Ser219Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531229.1",
"strand": true,
"transcript": "ENST00000861170.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 548,
"aa_ref": "S",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2127,
"cdna_start": 701,
"cds_end": null,
"cds_length": 1647,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000925662.1",
"gene_hgnc_id": 9302,
"gene_symbol": "PPP2R1A",
"hgvs_c": "c.656C>G",
"hgvs_p": "p.Ser219Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595721.1",
"strand": true,
"transcript": "ENST00000925662.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 531,
"aa_ref": "S",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2120,
"cdna_start": 738,
"cds_end": null,
"cds_length": 1596,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000925659.1",
"gene_hgnc_id": 9302,
"gene_symbol": "PPP2R1A",
"hgvs_c": "c.656C>G",
"hgvs_p": "p.Ser219Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595718.1",
"strand": true,
"transcript": "ENST00000925659.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 459,
"aa_ref": "S",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1831,
"cdna_start": 670,
"cds_end": null,
"cds_length": 1380,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000861171.1",
"gene_hgnc_id": 9302,
"gene_symbol": "PPP2R1A",
"hgvs_c": "c.656C>G",
"hgvs_p": "p.Ser219Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531230.1",
"strand": true,
"transcript": "ENST00000861171.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 410,
"aa_ref": "S",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5728,
"cdna_start": 1077,
"cds_end": null,
"cds_length": 1233,
"cds_start": 119,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001363656.2",
"gene_hgnc_id": 9302,
"gene_symbol": "PPP2R1A",
"hgvs_c": "c.119C>G",
"hgvs_p": "p.Ser40Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350585.1",
"strand": true,
"transcript": "NM_001363656.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 410,
"aa_ref": "S",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2730,
"cdna_start": 1180,
"cds_end": null,
"cds_length": 1233,
"cds_start": 119,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000462990.5",
"gene_hgnc_id": 9302,
"gene_symbol": "PPP2R1A",
"hgvs_c": "c.119C>G",
"hgvs_p": "p.Ser40Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470504.1",
"strand": true,
"transcript": "ENST00000462990.5",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 410,
"aa_ref": "S",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2364,
"cdna_start": 846,
"cds_end": null,
"cds_length": 1233,
"cds_start": 119,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000703395.1",
"gene_hgnc_id": 9302,
"gene_symbol": "PPP2R1A",
"hgvs_c": "c.119C>G",
"hgvs_p": "p.Ser40Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515286.1",
"strand": true,
"transcript": "ENST00000703395.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 410,
"aa_ref": "S",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2429,
"cdna_start": 898,
"cds_end": null,
"cds_length": 1233,
"cds_start": 119,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000703397.1",
"gene_hgnc_id": 9302,
"gene_symbol": "PPP2R1A",
"hgvs_c": "c.119C>G",
"hgvs_p": "p.Ser40Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515287.1",
"strand": true,
"transcript": "ENST00000703397.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 410,
"aa_ref": "S",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2378,
"cdna_start": 847,
"cds_end": null,
"cds_length": 1233,
"cds_start": 119,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000703423.1",
"gene_hgnc_id": 9302,
"gene_symbol": "PPP2R1A",
"hgvs_c": "c.119C>G",
"hgvs_p": "p.Ser40Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515293.1",
"strand": true,
"transcript": "ENST00000703423.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 239,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1202,
"cdna_start": null,
"cds_end": null,
"cds_length": 720,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960956.1",
"gene_hgnc_id": 9302,
"gene_symbol": "PPP2R1A",
"hgvs_c": "c.79-6732C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631015.1",
"strand": true,
"transcript": "ENST00000960956.1",
"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": 561,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000462047.1",
"gene_hgnc_id": 9302,
"gene_symbol": "PPP2R1A",
"hgvs_c": "n.347C>G",
"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": "ENST00000462047.1",
"transcript_support_level": 2
},
{
"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": 646,
"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": "ENST00000473820.1",
"gene_hgnc_id": 9302,
"gene_symbol": "PPP2R1A",
"hgvs_c": "n.130C>G",
"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": "ENST00000473820.1",
"transcript_support_level": 2
},
{
"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": 1037,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000703421.1",
"gene_hgnc_id": 9302,
"gene_symbol": "PPP2R1A",
"hgvs_c": "n.930C>G",
"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": "ENST00000703421.1",
"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": 5251,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NR_033500.2",
"gene_hgnc_id": 9302,
"gene_symbol": "PPP2R1A",
"hgvs_c": "n.600C>G",
"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_033500.2",
"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": 711,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000703401.1",
"gene_hgnc_id": 9302,
"gene_symbol": "PPP2R1A",
"hgvs_c": "n.-59C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000515289.1",
"strand": true,
"transcript": "ENST00000703401.1",
"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": 644,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000703396.1",
"gene_hgnc_id": 9302,
"gene_symbol": "PPP2R1A",
"hgvs_c": "n.*77C>G",
"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": "ENST00000703396.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1555791268",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 9302,
"gene_symbol": "PPP2R1A",
"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": "Uncertain significance",
"phenotype_combined": "Houge-Janssens syndrome 2",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.106,
"pos": 52212959,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.329,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_014225.6"
}
]
}