← 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: 2-46007564-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=46007564&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 46007564,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005400.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1166C>G",
"hgvs_p": "p.Pro389Arg",
"transcript": "NM_005400.3",
"protein_id": "NP_005391.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 737,
"cds_start": 1166,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000306156.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005400.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1166C>G",
"hgvs_p": "p.Pro389Arg",
"transcript": "ENST00000306156.8",
"protein_id": "ENSP00000306124.3",
"transcript_support_level": 1,
"aa_start": 389,
"aa_end": null,
"aa_length": 737,
"cds_start": 1166,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005400.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306156.8"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.755C>G",
"hgvs_p": "p.Pro252Arg",
"transcript": "ENST00000872579.1",
"protein_id": "ENSP00000542638.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 600,
"cds_start": 755,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872579.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.335C>G",
"hgvs_p": "p.Pro112Arg",
"transcript": "ENST00000394874.1",
"protein_id": "ENSP00000378341.1",
"transcript_support_level": 3,
"aa_start": 112,
"aa_end": null,
"aa_length": 219,
"cds_start": 335,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394874.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1166C>G",
"hgvs_p": "p.Pro389Arg",
"transcript": "XM_005264428.2",
"protein_id": "XP_005264485.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 737,
"cds_start": 1166,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264428.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.878C>G",
"hgvs_p": "p.Pro293Arg",
"transcript": "XM_011532971.4",
"protein_id": "XP_011531273.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 641,
"cds_start": 878,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532971.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.878C>G",
"hgvs_p": "p.Pro293Arg",
"transcript": "XM_011532975.4",
"protein_id": "XP_011531277.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 641,
"cds_start": 878,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532975.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.878C>G",
"hgvs_p": "p.Pro293Arg",
"transcript": "XM_047445094.1",
"protein_id": "XP_047301050.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 641,
"cds_start": 878,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445094.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.878C>G",
"hgvs_p": "p.Pro293Arg",
"transcript": "XM_047445095.1",
"protein_id": "XP_047301051.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 641,
"cds_start": 878,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445095.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.878C>G",
"hgvs_p": "p.Pro293Arg",
"transcript": "XM_047445096.1",
"protein_id": "XP_047301052.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 641,
"cds_start": 878,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445096.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.878C>G",
"hgvs_p": "p.Pro293Arg",
"transcript": "XM_047445097.1",
"protein_id": "XP_047301053.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 641,
"cds_start": 878,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445097.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.878C>G",
"hgvs_p": "p.Pro293Arg",
"transcript": "XM_047445098.1",
"protein_id": "XP_047301054.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 641,
"cds_start": 878,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445098.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.824C>G",
"hgvs_p": "p.Pro275Arg",
"transcript": "XM_011532978.3",
"protein_id": "XP_011531280.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 623,
"cds_start": 824,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532978.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.824C>G",
"hgvs_p": "p.Pro275Arg",
"transcript": "XM_017004488.3",
"protein_id": "XP_016859977.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 623,
"cds_start": 824,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004488.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.824C>G",
"hgvs_p": "p.Pro275Arg",
"transcript": "XM_047445099.1",
"protein_id": "XP_047301055.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 623,
"cds_start": 824,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445099.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.716C>G",
"hgvs_p": "p.Pro239Arg",
"transcript": "XM_011532980.4",
"protein_id": "XP_011531282.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 587,
"cds_start": 716,
"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": "XM_011532980.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.716C>G",
"hgvs_p": "p.Pro239Arg",
"transcript": "XM_011532981.4",
"protein_id": "XP_011531283.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 587,
"cds_start": 716,
"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": "XM_011532981.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.716C>G",
"hgvs_p": "p.Pro239Arg",
"transcript": "XM_017004490.3",
"protein_id": "XP_016859979.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 587,
"cds_start": 716,
"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": "XM_017004490.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.446C>G",
"hgvs_p": "p.Pro149Arg",
"transcript": "XM_011532982.3",
"protein_id": "XP_011531284.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 497,
"cds_start": 446,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532982.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1166C>G",
"hgvs_p": "p.Pro389Arg",
"transcript": "XM_005264431.5",
"protein_id": "XP_005264488.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 496,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264431.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1166C>G",
"hgvs_p": "p.Pro389Arg",
"transcript": "XM_017004492.3",
"protein_id": "XP_016859981.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 481,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004492.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.335C>G",
"hgvs_p": "p.Pro112Arg",
"transcript": "XM_006712050.4",
"protein_id": "XP_006712113.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 460,
"cds_start": 335,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712050.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.263C>G",
"hgvs_p": "p.Pro88Arg",
"transcript": "XM_011532983.3",
"protein_id": "XP_011531285.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 436,
"cds_start": 263,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532983.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "c.1166C>G",
"hgvs_p": "p.Pro389Arg",
"transcript": "XM_047445100.1",
"protein_id": "XP_047301056.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 426,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445100.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "n.1592C>G",
"hgvs_p": null,
"transcript": "XR_007078551.1",
"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": "pseudogene",
"feature": "XR_007078551.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"hgvs_c": "n.1592C>G",
"hgvs_p": null,
"transcript": "XR_939695.3",
"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": "XR_939695.3"
}
],
"gene_symbol": "PRKCE",
"gene_hgnc_id": 9401,
"dbsnp": "rs55767130",
"frequency_reference_population": 0.000024378412,
"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.000022799,
"gnomad_genomes_af": 0.0000393846,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.016123533248901367,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.137,
"revel_prediction": "Benign",
"alphamissense_score": 0.0798,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.796,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_005400.3",
"gene_symbol": "PRKCE",
"hgnc_id": 9401,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1166C>G",
"hgvs_p": "p.Pro389Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}