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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: 19-52190132-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=52190132&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 52190132,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_014225.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Pro12Pro",
"transcript": "NM_014225.6",
"protein_id": "NP_055040.2",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 589,
"cds_start": 36,
"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": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Pro12Pro",
"transcript": "ENST00000322088.11",
"protein_id": "ENSP00000324804.6",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 589,
"cds_start": 36,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Pro12Pro",
"transcript": "ENST00000454220.7",
"protein_id": "ENSP00000391905.3",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 629,
"cds_start": 36,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Pro12Pro",
"transcript": "ENST00000703398.1",
"protein_id": "ENSP00000515288.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 603,
"cds_start": 36,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Pro12Pro",
"transcript": "ENST00000960957.1",
"protein_id": "ENSP00000631016.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 591,
"cds_start": 36,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Pro12Pro",
"transcript": "ENST00000960954.1",
"protein_id": "ENSP00000631013.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 589,
"cds_start": 36,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Pro12Pro",
"transcript": "ENST00000861169.1",
"protein_id": "ENSP00000531228.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 588,
"cds_start": 36,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Pro12Pro",
"transcript": "ENST00000960953.1",
"protein_id": "ENSP00000631012.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 587,
"cds_start": 36,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Pro12Pro",
"transcript": "ENST00000925661.1",
"protein_id": "ENSP00000595720.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 582,
"cds_start": 36,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Pro12Pro",
"transcript": "ENST00000960955.1",
"protein_id": "ENSP00000631014.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 582,
"cds_start": 36,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Pro12Pro",
"transcript": "ENST00000703422.1",
"protein_id": "ENSP00000515292.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 581,
"cds_start": 36,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Pro12Pro",
"transcript": "ENST00000925660.1",
"protein_id": "ENSP00000595719.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 570,
"cds_start": 36,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Pro12Pro",
"transcript": "ENST00000861170.1",
"protein_id": "ENSP00000531229.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 555,
"cds_start": 36,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Pro12Pro",
"transcript": "ENST00000925662.1",
"protein_id": "ENSP00000595721.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 548,
"cds_start": 36,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Pro12Pro",
"transcript": "ENST00000925659.1",
"protein_id": "ENSP00000595718.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 531,
"cds_start": 36,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Pro12Pro",
"transcript": "ENST00000861171.1",
"protein_id": "ENSP00000531230.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 459,
"cds_start": 36,
"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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Pro12Pro",
"transcript": "ENST00000960956.1",
"protein_id": "ENSP00000631015.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 239,
"cds_start": 36,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960956.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Pro12Pro",
"transcript": "ENST00000477989.1",
"protein_id": "ENSP00000471298.1",
"transcript_support_level": 3,
"aa_start": 12,
"aa_end": null,
"aa_length": 66,
"cds_start": 36,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477989.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.-699C>T",
"hgvs_p": null,
"transcript": "ENST00000703397.1",
"protein_id": "ENSP00000515287.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 410,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "c.-459-11812C>T",
"hgvs_p": null,
"transcript": "ENST00000703395.1",
"protein_id": "ENSP00000515286.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 410,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "n.19C>T",
"hgvs_p": null,
"transcript": "ENST00000468280.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000468280.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "n.36C>T",
"hgvs_p": null,
"transcript": "ENST00000490868.5",
"protein_id": "ENSP00000469150.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000490868.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "n.81C>T",
"hgvs_p": null,
"transcript": "ENST00000703396.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000703396.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "n.81C>T",
"hgvs_p": null,
"transcript": "NR_033500.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_033500.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"hgvs_c": "n.231+976C>T",
"hgvs_p": null,
"transcript": "ENST00000703421.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000703421.1"
}
],
"gene_symbol": "PPP2R1A",
"gene_hgnc_id": 9302,
"dbsnp": "rs768487870",
"frequency_reference_population": 0.0000025795835,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000214516,
"gnomad_genomes_af": 0.00000657272,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.41999998688697815,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.096,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_014225.6",
"gene_symbol": "PPP2R1A",
"hgnc_id": 9302,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Pro12Pro"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}