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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: 19-52212730-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=52212730&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 52212730,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014225.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln",
"transcript": "NM_014225.6",
"protein_id": "NP_055040.2",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 589,
"cds_start": 548,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000322088.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014225.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln",
"transcript": "ENST00000322088.11",
"protein_id": "ENSP00000324804.6",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 589,
"cds_start": 548,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014225.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322088.11"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.668G>A",
"hgvs_p": "p.Arg223Gln",
"transcript": "ENST00000454220.7",
"protein_id": "ENSP00000391905.3",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 629,
"cds_start": 668,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454220.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.590G>A",
"hgvs_p": "p.Arg197Gln",
"transcript": "ENST00000703398.1",
"protein_id": "ENSP00000515288.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 603,
"cds_start": 590,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703398.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln",
"transcript": "ENST00000960957.1",
"protein_id": "ENSP00000631016.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 591,
"cds_start": 548,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960957.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln",
"transcript": "ENST00000960954.1",
"protein_id": "ENSP00000631013.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 589,
"cds_start": 548,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960954.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln",
"transcript": "ENST00000861169.1",
"protein_id": "ENSP00000531228.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 588,
"cds_start": 548,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861169.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln",
"transcript": "ENST00000960953.1",
"protein_id": "ENSP00000631012.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 587,
"cds_start": 548,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960953.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln",
"transcript": "ENST00000925661.1",
"protein_id": "ENSP00000595720.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 582,
"cds_start": 548,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925661.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln",
"transcript": "ENST00000960955.1",
"protein_id": "ENSP00000631014.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 582,
"cds_start": 548,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960955.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175Gln",
"transcript": "ENST00000703422.1",
"protein_id": "ENSP00000515292.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 581,
"cds_start": 524,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703422.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln",
"transcript": "ENST00000925660.1",
"protein_id": "ENSP00000595719.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 570,
"cds_start": 548,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925660.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln",
"transcript": "ENST00000861170.1",
"protein_id": "ENSP00000531229.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 555,
"cds_start": 548,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861170.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln",
"transcript": "ENST00000925662.1",
"protein_id": "ENSP00000595721.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 548,
"cds_start": 548,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925662.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln",
"transcript": "ENST00000925659.1",
"protein_id": "ENSP00000595718.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 531,
"cds_start": 548,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925659.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln",
"transcript": "ENST00000861171.1",
"protein_id": "ENSP00000531230.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 459,
"cds_start": 548,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861171.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.11G>A",
"hgvs_p": "p.Arg4Gln",
"transcript": "NM_001363656.2",
"protein_id": "NP_001350585.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 410,
"cds_start": 11,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363656.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.11G>A",
"hgvs_p": "p.Arg4Gln",
"transcript": "ENST00000462990.5",
"protein_id": "ENSP00000470504.1",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 410,
"cds_start": 11,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462990.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.11G>A",
"hgvs_p": "p.Arg4Gln",
"transcript": "ENST00000703395.1",
"protein_id": "ENSP00000515286.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 410,
"cds_start": 11,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703395.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.11G>A",
"hgvs_p": "p.Arg4Gln",
"transcript": "ENST00000703397.1",
"protein_id": "ENSP00000515287.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 410,
"cds_start": 11,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703397.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.11G>A",
"hgvs_p": "p.Arg4Gln",
"transcript": "ENST00000703423.1",
"protein_id": "ENSP00000515293.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 410,
"cds_start": 11,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703423.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.79-6961G>A",
"hgvs_p": null,
"transcript": "ENST00000960956.1",
"protein_id": "ENSP00000631015.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 239,
"cds_start": null,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
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"biotype": "protein_coding",
"feature": "ENST00000960956.1"
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{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
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"exon_count": 3,
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"biotype": "retained_intron",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 4,
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"gene_symbol": "PPP2R1A",
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"hgvs_c": "n.492G>A",
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"transcript": "ENST00000703396.1",
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"biotype": "retained_intron",
"feature": "ENST00000703396.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 5,
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"gene_symbol": "PPP2R1A",
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"hgvs_c": "n.701G>A",
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"transcript": "ENST00000703421.1",
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"biotype": "retained_intron",
"feature": "ENST00000703421.1"
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 14,
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"gene_symbol": "PPP2R1A",
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"transcript": "NR_033500.2",
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"biotype": "pseudogene",
"feature": "NR_033500.2"
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{
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"canonical": false,
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"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 5,
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"gene_symbol": "PPP2R1A",
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"hgvs_c": "n.-100G>A",
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"transcript": "ENST00000473820.1",
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{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 4,
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"gene_symbol": "PPP2R1A",
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"hgvs_c": "n.*32G>A",
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"transcript": "ENST00000473455.2",
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"transcript_support_level": 3,
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"biotype": "pseudogene",
"feature": "ENST00000473455.2"
}
],
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"dbsnp": "rs1057519947",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8088178634643555,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.306,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9994,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.717,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 15,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 15,
"benign_score": 0,
"pathogenic_score": 15,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_014225.6",
"gene_symbol": "PPP2R1A",
"hgnc_id": 9302,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183Gln"
}
],
"clinvar_disease": "Houge-Janssens syndrome 2,Intellectual disability,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 LP:1 O:1",
"phenotype_combined": "Houge-Janssens syndrome 2|Intellectual disability|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}