← 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: 12-18696161-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=18696161&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 18696161,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000266505.12",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1280G>C",
"hgvs_p": "p.Gly427Ala",
"transcript": "NM_033123.4",
"protein_id": "NP_149114.2",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 608,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1499,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": "ENST00000266505.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1280G>C",
"hgvs_p": "p.Gly427Ala",
"transcript": "ENST00000266505.12",
"protein_id": "ENSP00000266505.7",
"transcript_support_level": 1,
"aa_start": 427,
"aa_end": null,
"aa_length": 608,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1499,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": "NM_033123.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1403G>C",
"hgvs_p": "p.Gly468Ala",
"transcript": "ENST00000648272.1",
"protein_id": "ENSP00000497636.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 649,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1710,
"cdna_end": null,
"cdna_length": 2320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.701G>C",
"hgvs_p": "p.Gly234Ala",
"transcript": "ENST00000539875.5",
"protein_id": "ENSP00000445026.1",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 415,
"cds_start": 701,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 1398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "n.*1145G>C",
"hgvs_p": null,
"transcript": "ENST00000318197.10",
"protein_id": "ENSP00000326397.6",
"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": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "n.*1145G>C",
"hgvs_p": null,
"transcript": "ENST00000318197.10",
"protein_id": "ENSP00000326397.6",
"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": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.968G>C",
"hgvs_p": "p.Gly323Ala",
"transcript": "NM_001330774.2",
"protein_id": "NP_001317703.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 504,
"cds_start": 968,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1502,
"cdna_end": null,
"cdna_length": 2108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.701G>C",
"hgvs_p": "p.Gly234Ala",
"transcript": "NM_001330769.1",
"protein_id": "NP_001317698.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 415,
"cds_start": 701,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 1445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.626G>C",
"hgvs_p": "p.Gly209Ala",
"transcript": "ENST00000538330.5",
"protein_id": "ENSP00000445880.1",
"transcript_support_level": 2,
"aa_start": 209,
"aa_end": null,
"aa_length": 390,
"cds_start": 626,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.485G>C",
"hgvs_p": "p.Gly162Ala",
"transcript": "ENST00000540421.5",
"protein_id": "ENSP00000445889.1",
"transcript_support_level": 3,
"aa_start": 162,
"aa_end": null,
"aa_length": 264,
"cds_start": 485,
"cds_end": null,
"cds_length": 797,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1403G>C",
"hgvs_p": "p.Gly468Ala",
"transcript": "XM_017020176.2",
"protein_id": "XP_016875665.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 659,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1622,
"cdna_end": null,
"cdna_length": 2214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1280G>C",
"hgvs_p": "p.Gly427Ala",
"transcript": "XM_017020177.2",
"protein_id": "XP_016875666.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 618,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1499,
"cdna_end": null,
"cdna_length": 2091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1253G>C",
"hgvs_p": "p.Gly418Ala",
"transcript": "XM_017020178.2",
"protein_id": "XP_016875667.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 609,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1403G>C",
"hgvs_p": "p.Gly468Ala",
"transcript": "XM_047429827.1",
"protein_id": "XP_047285783.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 548,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1622,
"cdna_end": null,
"cdna_length": 1892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Gly280Ala",
"transcript": "XM_017020182.2",
"protein_id": "XP_016875671.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 471,
"cds_start": 839,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 1515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.824G>C",
"hgvs_p": "p.Gly275Ala",
"transcript": "XM_017020183.2",
"protein_id": "XP_016875672.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 466,
"cds_start": 824,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1043,
"cdna_end": null,
"cdna_length": 1635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Gly280Ala",
"transcript": "XM_024449254.2",
"protein_id": "XP_024305022.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 461,
"cds_start": 839,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 1558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.692G>C",
"hgvs_p": "p.Gly231Ala",
"transcript": "XM_017020184.2",
"protein_id": "XP_016875673.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 422,
"cds_start": 692,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 1599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.701G>C",
"hgvs_p": "p.Gly234Ala",
"transcript": "XM_024449255.2",
"protein_id": "XP_024305023.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 415,
"cds_start": 701,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 1526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.626G>C",
"hgvs_p": "p.Gly209Ala",
"transcript": "XM_017020185.3",
"protein_id": "XP_016875674.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 400,
"cds_start": 626,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 1568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.626G>C",
"hgvs_p": "p.Gly209Ala",
"transcript": "XM_047429828.1",
"protein_id": "XP_047285784.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 400,
"cds_start": 626,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 1597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "n.893G>C",
"hgvs_p": null,
"transcript": "ENST00000540270.5",
"protein_id": "ENSP00000443320.1",
"transcript_support_level": 2,
"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": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "n.803G>C",
"hgvs_p": null,
"transcript": "ENST00000542762.5",
"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": 814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "n.1622G>C",
"hgvs_p": null,
"transcript": "XR_001748912.2",
"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": 2371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "PIK3C2G",
"gene_hgnc_id": 8973,
"hgvs_c": "c.4309-19525C>G",
"hgvs_p": null,
"transcript": "XM_017019471.2",
"protein_id": "XP_016874960.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1492,
"cds_start": -4,
"cds_end": null,
"cds_length": 4479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 33,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "PIK3C2G",
"gene_hgnc_id": 8973,
"hgvs_c": "c.4309-19525C>G",
"hgvs_p": null,
"transcript": "XM_017019473.3",
"protein_id": "XP_016874962.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1492,
"cds_start": -4,
"cds_end": null,
"cds_length": 4479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 35,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "PIK3C2G",
"gene_hgnc_id": 8973,
"hgvs_c": "c.4309-19525C>G",
"hgvs_p": null,
"transcript": "XM_047429007.1",
"protein_id": "XP_047284963.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1481,
"cds_start": -4,
"cds_end": null,
"cds_length": 4446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 32,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "PIK3C2G",
"gene_hgnc_id": 8973,
"hgvs_c": "c.4186-19525C>G",
"hgvs_p": null,
"transcript": "XM_047429008.1",
"protein_id": "XP_047284964.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1451,
"cds_start": -4,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PIK3C2G",
"gene_hgnc_id": 8973,
"hgvs_c": "c.2284-19525C>G",
"hgvs_p": null,
"transcript": "XM_017019479.2",
"protein_id": "XP_016874968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 817,
"cds_start": -4,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "n.*30G>C",
"hgvs_p": null,
"transcript": "ENST00000540515.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"dbsnp": "rs374938372",
"frequency_reference_population": 0.000013202191,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": 0.0000132022,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9551251530647278,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.905,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9048,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.42,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.031,
"phylop100way_prediction": "Uncertain_significance",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000266505.12",
"gene_symbol": "PLCZ1",
"hgnc_id": 19218,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1280G>C",
"hgvs_p": "p.Gly427Ala"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "XM_017019471.2",
"gene_symbol": "PIK3C2G",
"hgnc_id": 8973,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4309-19525C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}