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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: 16-81858323-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=81858323&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 81858323,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000564138.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.398C>G",
"hgvs_p": "p.Ala133Gly",
"transcript": "NM_002661.5",
"protein_id": "NP_002652.2",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 1265,
"cds_start": 398,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 8666,
"mane_select": "ENST00000564138.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.398C>G",
"hgvs_p": "p.Ala133Gly",
"transcript": "ENST00000564138.6",
"protein_id": "ENSP00000482457.1",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 1265,
"cds_start": 398,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 579,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "n.642C>G",
"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": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.398C>G",
"hgvs_p": "p.Ala133Gly",
"transcript": "NM_001425749.1",
"protein_id": "NP_001412678.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 1265,
"cds_start": 398,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 4583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.398C>G",
"hgvs_p": "p.Ala133Gly",
"transcript": "NM_001425750.1",
"protein_id": "NP_001412679.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 1265,
"cds_start": 398,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 4486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.398C>G",
"hgvs_p": "p.Ala133Gly",
"transcript": "NM_001425751.1",
"protein_id": "NP_001412680.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 1265,
"cds_start": 398,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 938,
"cdna_end": null,
"cdna_length": 4634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.398C>G",
"hgvs_p": "p.Ala133Gly",
"transcript": "ENST00000565054.7",
"protein_id": "ENSP00000520638.1",
"transcript_support_level": 5,
"aa_start": 133,
"aa_end": null,
"aa_length": 1265,
"cds_start": 398,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 4554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.398C>G",
"hgvs_p": "p.Ala133Gly",
"transcript": "ENST00000697580.2",
"protein_id": "ENSP00000520637.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 1265,
"cds_start": 398,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 4312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.398C>G",
"hgvs_p": "p.Ala133Gly",
"transcript": "ENST00000697564.1",
"protein_id": "ENSP00000513340.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 1226,
"cds_start": 398,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 4119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.197C>G",
"hgvs_p": "p.Ala66Gly",
"transcript": "ENST00000697583.1",
"protein_id": "ENSP00000513349.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 1198,
"cds_start": 197,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 4145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.197C>G",
"hgvs_p": "p.Ala66Gly",
"transcript": "ENST00000697584.1",
"protein_id": "ENSP00000513350.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 1198,
"cds_start": 197,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 4181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.197C>G",
"hgvs_p": "p.Ala66Gly",
"transcript": "ENST00000697585.1",
"protein_id": "ENSP00000513351.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 1198,
"cds_start": 197,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 4134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.197C>G",
"hgvs_p": "p.Ala66Gly",
"transcript": "ENST00000697586.1",
"protein_id": "ENSP00000513352.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 1198,
"cds_start": 197,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.197C>G",
"hgvs_p": "p.Ala66Gly",
"transcript": "ENST00000697587.1",
"protein_id": "ENSP00000513353.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 1198,
"cds_start": 197,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.398C>G",
"hgvs_p": "p.Ala133Gly",
"transcript": "ENST00000563193.2",
"protein_id": "ENSP00000455533.2",
"transcript_support_level": 3,
"aa_start": 133,
"aa_end": null,
"aa_length": 408,
"cds_start": 398,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 2296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.257C>G",
"hgvs_p": "p.Ala86Gly",
"transcript": "ENST00000565400.5",
"protein_id": "ENSP00000513348.1",
"transcript_support_level": 5,
"aa_start": 86,
"aa_end": null,
"aa_length": 118,
"cds_start": 257,
"cds_end": null,
"cds_length": 358,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.197C>G",
"hgvs_p": "p.Ala66Gly",
"transcript": "ENST00000569523.1",
"protein_id": "ENSP00000513354.1",
"transcript_support_level": 4,
"aa_start": 66,
"aa_end": null,
"aa_length": 113,
"cds_start": 197,
"cds_end": null,
"cds_length": 342,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "n.379C>G",
"hgvs_p": null,
"transcript": "ENST00000565020.1",
"protein_id": null,
"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": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "n.398C>G",
"hgvs_p": null,
"transcript": "ENST00000697561.1",
"protein_id": "ENSP00000513337.1",
"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": 3082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "n.398C>G",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "n.338C>G",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "n.*392C>G",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "n.398C>G",
"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,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": 5,
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"transcript": "ENST00000697581.1",
"protein_id": "ENSP00000513346.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 8,
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"gene_symbol": "PLCG2",
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"hgvs_c": "n.338-793C>G",
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"transcript": "ENST00000569929.5",
"protein_id": "ENSP00000513357.1",
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 32,
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"gene_symbol": "PLCG2",
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"hgvs_c": "n.338-793C>G",
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"transcript": "ENST00000697563.1",
"protein_id": "ENSP00000513339.1",
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"cds_start": -4,
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"feature": null
}
],
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"dbsnp": "rs61755444",
"frequency_reference_population": 0.000007436041,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000752623,
"gnomad_genomes_af": 0.00000657004,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2725394368171692,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.097,
"revel_prediction": "Benign",
"alphamissense_score": 0.192,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.118,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -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"
],
"inheritance_mode": "AD",
"hgvs_c": "c.398C>G",
"hgvs_p": "p.Ala133Gly"
}
],
"clinvar_disease": "Familial cold autoinflammatory syndrome 3",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Familial cold autoinflammatory syndrome 3",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}