← 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: 16-81900612-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=81900612&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 81900612,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000564138.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1194C>A",
"hgvs_p": "p.Ser398Arg",
"transcript": "NM_002661.5",
"protein_id": "NP_002652.2",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 1265,
"cds_start": 1194,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 8666,
"mane_select": "ENST00000564138.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1194C>A",
"hgvs_p": "p.Ser398Arg",
"transcript": "ENST00000564138.6",
"protein_id": "ENSP00000482457.1",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 1265,
"cds_start": 1194,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 8666,
"mane_select": "NM_002661.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "n.1438C>A",
"hgvs_p": null,
"transcript": "ENST00000567980.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1194C>A",
"hgvs_p": "p.Ser398Arg",
"transcript": "NM_001425749.1",
"protein_id": "NP_001412678.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 1265,
"cds_start": 1194,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 1683,
"cdna_end": null,
"cdna_length": 4583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1194C>A",
"hgvs_p": "p.Ser398Arg",
"transcript": "NM_001425750.1",
"protein_id": "NP_001412679.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 1265,
"cds_start": 1194,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 4486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1194C>A",
"hgvs_p": "p.Ser398Arg",
"transcript": "NM_001425751.1",
"protein_id": "NP_001412680.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 1265,
"cds_start": 1194,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 1734,
"cdna_end": null,
"cdna_length": 4634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1194C>A",
"hgvs_p": "p.Ser398Arg",
"transcript": "ENST00000565054.7",
"protein_id": "ENSP00000520638.1",
"transcript_support_level": 5,
"aa_start": 398,
"aa_end": null,
"aa_length": 1265,
"cds_start": 1194,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 1654,
"cdna_end": null,
"cdna_length": 4554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1194C>A",
"hgvs_p": "p.Ser398Arg",
"transcript": "ENST00000697580.2",
"protein_id": "ENSP00000520637.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 1265,
"cds_start": 1194,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 4312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1077C>A",
"hgvs_p": "p.Ser359Arg",
"transcript": "ENST00000697564.1",
"protein_id": "ENSP00000513340.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 1226,
"cds_start": 1077,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 4119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.993C>A",
"hgvs_p": "p.Ser331Arg",
"transcript": "ENST00000697583.1",
"protein_id": "ENSP00000513349.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 1198,
"cds_start": 993,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 4145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.993C>A",
"hgvs_p": "p.Ser331Arg",
"transcript": "ENST00000697584.1",
"protein_id": "ENSP00000513350.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 1198,
"cds_start": 993,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 4181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.993C>A",
"hgvs_p": "p.Ser331Arg",
"transcript": "ENST00000697585.1",
"protein_id": "ENSP00000513351.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 1198,
"cds_start": 993,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 4134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.993C>A",
"hgvs_p": "p.Ser331Arg",
"transcript": "ENST00000697586.1",
"protein_id": "ENSP00000513352.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 1198,
"cds_start": 993,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.993C>A",
"hgvs_p": "p.Ser331Arg",
"transcript": "ENST00000697587.1",
"protein_id": "ENSP00000513353.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 1198,
"cds_start": 993,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "n.388C>A",
"hgvs_p": null,
"transcript": "ENST00000562605.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "n.312C>A",
"hgvs_p": null,
"transcript": "ENST00000570198.2",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "n.*54C>A",
"hgvs_p": null,
"transcript": "ENST00000697562.1",
"protein_id": "ENSP00000513338.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "n.*1040C>A",
"hgvs_p": null,
"transcript": "ENST00000697563.1",
"protein_id": "ENSP00000513339.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "n.1134C>A",
"hgvs_p": null,
"transcript": "ENST00000697565.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "n.*1188C>A",
"hgvs_p": null,
"transcript": "ENST00000697581.1",
"protein_id": "ENSP00000513346.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "n.1194C>A",
"hgvs_p": null,
"transcript": "ENST00000697582.1",
"protein_id": "ENSP00000513347.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "n.*54C>A",
"hgvs_p": null,
"transcript": "ENST00000697562.1",
"protein_id": "ENSP00000513338.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "n.*1040C>A",
"hgvs_p": null,
"transcript": "ENST00000697563.1",
"protein_id": "ENSP00000513339.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "n.*1188C>A",
"hgvs_p": null,
"transcript": "ENST00000697581.1",
"protein_id": "ENSP00000513346.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "n.*45+4685C>A",
"hgvs_p": null,
"transcript": "ENST00000563375.2",
"protein_id": "ENSP00000454536.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"dbsnp": "rs1051315426",
"frequency_reference_population": 0.000004876078,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000487608,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3688380718231201,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.15399999916553497,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.076,
"revel_prediction": "Benign",
"alphamissense_score": 0.1997,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.067,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0345913302513598,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000564138.6",
"gene_symbol": "PLCG2",
"hgnc_id": 9066,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1194C>A",
"hgvs_p": "p.Ser398Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}