← 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: 16-81908570-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=81908570&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 81908570,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002661.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.Asn571Ser",
"transcript": "NM_002661.5",
"protein_id": "NP_002652.2",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 1265,
"cds_start": 1712,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000564138.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002661.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.Asn571Ser",
"transcript": "ENST00000564138.6",
"protein_id": "ENSP00000482457.1",
"transcript_support_level": 1,
"aa_start": 571,
"aa_end": null,
"aa_length": 1265,
"cds_start": 1712,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002661.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564138.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "n.1956A>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": 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": "ENST00000567980.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1865A>G",
"hgvs_p": "p.Asn622Ser",
"transcript": "ENST00000902427.1",
"protein_id": "ENSP00000572486.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 1316,
"cds_start": 1865,
"cds_end": null,
"cds_length": 3951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902427.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.Asn571Ser",
"transcript": "NM_001425749.1",
"protein_id": "NP_001412678.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 1265,
"cds_start": 1712,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425749.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.Asn571Ser",
"transcript": "NM_001425750.1",
"protein_id": "NP_001412679.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 1265,
"cds_start": 1712,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425750.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.Asn571Ser",
"transcript": "NM_001425751.1",
"protein_id": "NP_001412680.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 1265,
"cds_start": 1712,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425751.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.Asn571Ser",
"transcript": "ENST00000565054.7",
"protein_id": "ENSP00000520638.1",
"transcript_support_level": 5,
"aa_start": 571,
"aa_end": null,
"aa_length": 1265,
"cds_start": 1712,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565054.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.Asn571Ser",
"transcript": "ENST00000697580.2",
"protein_id": "ENSP00000520637.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 1265,
"cds_start": 1712,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697580.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.Asn571Ser",
"transcript": "ENST00000902425.1",
"protein_id": "ENSP00000572484.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 1265,
"cds_start": 1712,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902425.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.Asn571Ser",
"transcript": "ENST00000902431.1",
"protein_id": "ENSP00000572490.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 1265,
"cds_start": 1712,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902431.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.Asn571Ser",
"transcript": "ENST00000902429.1",
"protein_id": "ENSP00000572488.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 1263,
"cds_start": 1712,
"cds_end": null,
"cds_length": 3792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902429.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1703A>G",
"hgvs_p": "p.Asn568Ser",
"transcript": "ENST00000902430.1",
"protein_id": "ENSP00000572489.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 1262,
"cds_start": 1703,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902430.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1676A>G",
"hgvs_p": "p.Asn559Ser",
"transcript": "ENST00000902428.1",
"protein_id": "ENSP00000572487.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 1253,
"cds_start": 1676,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902428.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1607A>G",
"hgvs_p": "p.Asn536Ser",
"transcript": "ENST00000902426.1",
"protein_id": "ENSP00000572485.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 1230,
"cds_start": 1607,
"cds_end": null,
"cds_length": 3693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902426.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1595A>G",
"hgvs_p": "p.Asn532Ser",
"transcript": "ENST00000697564.1",
"protein_id": "ENSP00000513340.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 1226,
"cds_start": 1595,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697564.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1568A>G",
"hgvs_p": "p.Asn523Ser",
"transcript": "ENST00000947323.1",
"protein_id": "ENSP00000617382.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 1217,
"cds_start": 1568,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947323.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1511A>G",
"hgvs_p": "p.Asn504Ser",
"transcript": "ENST00000697583.1",
"protein_id": "ENSP00000513349.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 1198,
"cds_start": 1511,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697583.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1511A>G",
"hgvs_p": "p.Asn504Ser",
"transcript": "ENST00000697584.1",
"protein_id": "ENSP00000513350.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 1198,
"cds_start": 1511,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697584.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1511A>G",
"hgvs_p": "p.Asn504Ser",
"transcript": "ENST00000697585.1",
"protein_id": "ENSP00000513351.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 1198,
"cds_start": 1511,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697585.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1511A>G",
"hgvs_p": "p.Asn504Ser",
"transcript": "ENST00000697586.1",
"protein_id": "ENSP00000513352.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 1198,
"cds_start": 1511,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697586.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1511A>G",
"hgvs_p": "p.Asn504Ser",
"transcript": "ENST00000697587.1",
"protein_id": "ENSP00000513353.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 1198,
"cds_start": 1511,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697587.1"
},
{
"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": 29,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "c.1194-1950A>G",
"hgvs_p": null,
"transcript": "ENST00000917143.1",
"protein_id": "ENSP00000587202.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1085,
"cds_start": null,
"cds_end": null,
"cds_length": 3258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917143.1"
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "n.830A>G",
"hgvs_p": null,
"transcript": "ENST00000570198.2",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000570198.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "n.*572A>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": 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": "ENST00000697562.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "n.*1558A>G",
"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": 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": "ENST00000697563.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "n.*1706A>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": 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": "ENST00000697581.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "n.1712A>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": 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": "ENST00000697582.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "n.*572A>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": 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": "ENST00000697562.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "n.*1558A>G",
"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": 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": "ENST00000697563.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"hgvs_c": "n.*1706A>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": 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": "ENST00000697581.1"
}
],
"gene_symbol": "PLCG2",
"gene_hgnc_id": 9066,
"dbsnp": "rs75472618",
"frequency_reference_population": 0.0065914867,
"hom_count_reference_population": 73,
"allele_count_reference_population": 10624,
"gnomad_exomes_af": 0.00646158,
"gnomad_genomes_af": 0.00783703,
"gnomad_exomes_ac": 9431,
"gnomad_genomes_ac": 1193,
"gnomad_exomes_homalt": 65,
"gnomad_genomes_homalt": 8,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007156580686569214,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.293,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.069,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.357,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_002661.5",
"gene_symbol": "PLCG2",
"hgnc_id": 9066,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1712A>G",
"hgvs_p": "p.Asn571Ser"
}
],
"clinvar_disease": "Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation,Familial cold autoinflammatory syndrome 3,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:4",
"phenotype_combined": "not specified|Familial cold autoinflammatory syndrome 3|not provided|Familial cold autoinflammatory syndrome 3;Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}