← 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: 1-2173988-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=2173988&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 2173988,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002744.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1377C>G",
"hgvs_p": "p.Asp459Glu",
"transcript": "NM_002744.6",
"protein_id": "NP_002735.3",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 592,
"cds_start": 1377,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378567.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002744.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1377C>G",
"hgvs_p": "p.Asp459Glu",
"transcript": "ENST00000378567.8",
"protein_id": "ENSP00000367830.3",
"transcript_support_level": 1,
"aa_start": 459,
"aa_end": null,
"aa_length": 592,
"cds_start": 1377,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002744.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378567.8"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.828C>G",
"hgvs_p": "p.Asp276Glu",
"transcript": "ENST00000400921.6",
"protein_id": "ENSP00000383712.2",
"transcript_support_level": 1,
"aa_start": 276,
"aa_end": null,
"aa_length": 409,
"cds_start": 828,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400921.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1650C>G",
"hgvs_p": "p.Asp550Glu",
"transcript": "ENST00000965048.1",
"protein_id": "ENSP00000635107.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 683,
"cds_start": 1650,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965048.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1401C>G",
"hgvs_p": "p.Asp467Glu",
"transcript": "ENST00000877863.1",
"protein_id": "ENSP00000547922.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 600,
"cds_start": 1401,
"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": "ENST00000877863.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1377C>G",
"hgvs_p": "p.Asp459Glu",
"transcript": "ENST00000877864.1",
"protein_id": "ENSP00000547923.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 597,
"cds_start": 1377,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877864.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1290C>G",
"hgvs_p": "p.Asp430Glu",
"transcript": "ENST00000877862.1",
"protein_id": "ENSP00000547921.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 563,
"cds_start": 1290,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877862.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1110C>G",
"hgvs_p": "p.Asp370Glu",
"transcript": "ENST00000926524.1",
"protein_id": "ENSP00000596583.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 503,
"cds_start": 1110,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926524.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1065C>G",
"hgvs_p": "p.Asp355Glu",
"transcript": "NM_001242874.3",
"protein_id": "NP_001229803.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 488,
"cds_start": 1065,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242874.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1065C>G",
"hgvs_p": "p.Asp355Glu",
"transcript": "ENST00000461106.6",
"protein_id": "ENSP00000426412.1",
"transcript_support_level": 2,
"aa_start": 355,
"aa_end": null,
"aa_length": 488,
"cds_start": 1065,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461106.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.852C>G",
"hgvs_p": "p.Asp284Glu",
"transcript": "NM_001350803.2",
"protein_id": "NP_001337732.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 417,
"cds_start": 852,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350803.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.852C>G",
"hgvs_p": "p.Asp284Glu",
"transcript": "NM_001350804.2",
"protein_id": "NP_001337733.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 417,
"cds_start": 852,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350804.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.828C>G",
"hgvs_p": "p.Asp276Glu",
"transcript": "NM_001033581.3",
"protein_id": "NP_001028753.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 409,
"cds_start": 828,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033581.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.828C>G",
"hgvs_p": "p.Asp276Glu",
"transcript": "NM_001033582.3",
"protein_id": "NP_001028754.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 409,
"cds_start": 828,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033582.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.666C>G",
"hgvs_p": "p.Asp222Glu",
"transcript": "NM_001350805.2",
"protein_id": "NP_001337734.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 355,
"cds_start": 666,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350805.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.666C>G",
"hgvs_p": "p.Asp222Glu",
"transcript": "NM_001350806.2",
"protein_id": "NP_001337735.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 355,
"cds_start": 666,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350806.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1401C>G",
"hgvs_p": "p.Asp467Glu",
"transcript": "XM_017001789.2",
"protein_id": "XP_016857278.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 603,
"cds_start": 1401,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001789.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1401C>G",
"hgvs_p": "p.Asp467Glu",
"transcript": "XM_017001790.2",
"protein_id": "XP_016857279.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 600,
"cds_start": 1401,
"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": "XM_017001790.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1377C>G",
"hgvs_p": "p.Asp459Glu",
"transcript": "XM_011541773.2",
"protein_id": "XP_011540075.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 595,
"cds_start": 1377,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541773.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1362C>G",
"hgvs_p": "p.Asp454Glu",
"transcript": "XM_047425255.1",
"protein_id": "XP_047281211.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 587,
"cds_start": 1362,
"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_047425255.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1263C>G",
"hgvs_p": "p.Asp421Glu",
"transcript": "XM_047425260.1",
"protein_id": "XP_047281216.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 557,
"cds_start": 1263,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425260.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1239C>G",
"hgvs_p": "p.Asp413Glu",
"transcript": "XM_047425262.1",
"protein_id": "XP_047281218.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 546,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425262.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1131C>G",
"hgvs_p": "p.Asp377Glu",
"transcript": "XM_047425283.1",
"protein_id": "XP_047281239.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 510,
"cds_start": 1131,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425283.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1074C>G",
"hgvs_p": "p.Asp358Glu",
"transcript": "XM_047425273.1",
"protein_id": "XP_047281229.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 494,
"cds_start": 1074,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425273.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1065C>G",
"hgvs_p": "p.Asp355Glu",
"transcript": "XM_011541774.2",
"protein_id": "XP_011540076.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 491,
"cds_start": 1065,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541774.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.852C>G",
"hgvs_p": "p.Asp284Glu",
"transcript": "XM_017001792.2",
"protein_id": "XP_016857281.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 420,
"cds_start": 852,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001792.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.852C>G",
"hgvs_p": "p.Asp284Glu",
"transcript": "XM_017001793.2",
"protein_id": "XP_016857282.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 420,
"cds_start": 852,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001793.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.852C>G",
"hgvs_p": "p.Asp284Glu",
"transcript": "XM_024448391.2",
"protein_id": "XP_024304159.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 420,
"cds_start": 852,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448391.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.852C>G",
"hgvs_p": "p.Asp284Glu",
"transcript": "XM_047425304.1",
"protein_id": "XP_047281260.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 420,
"cds_start": 852,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425304.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.852C>G",
"hgvs_p": "p.Asp284Glu",
"transcript": "XM_047425307.1",
"protein_id": "XP_047281263.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 420,
"cds_start": 852,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425307.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.852C>G",
"hgvs_p": "p.Asp284Glu",
"transcript": "XM_047425323.1",
"protein_id": "XP_047281279.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 417,
"cds_start": 852,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425323.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.840C>G",
"hgvs_p": "p.Asp280Glu",
"transcript": "XM_017001797.2",
"protein_id": "XP_016857286.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 416,
"cds_start": 840,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001797.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.828C>G",
"hgvs_p": "p.Asp276Glu",
"transcript": "XM_011541776.2",
"protein_id": "XP_011540078.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 412,
"cds_start": 828,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541776.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.828C>G",
"hgvs_p": "p.Asp276Glu",
"transcript": "XM_024448396.2",
"protein_id": "XP_024304164.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 412,
"cds_start": 828,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448396.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.828C>G",
"hgvs_p": "p.Asp276Glu",
"transcript": "XM_047425340.1",
"protein_id": "XP_047281296.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 412,
"cds_start": 828,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425340.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.828C>G",
"hgvs_p": "p.Asp276Glu",
"transcript": "XM_047425348.1",
"protein_id": "XP_047281304.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 409,
"cds_start": 828,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425348.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.690C>G",
"hgvs_p": "p.Asp230Glu",
"transcript": "XM_024448397.2",
"protein_id": "XP_024304165.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 366,
"cds_start": 690,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448397.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.666C>G",
"hgvs_p": "p.Asp222Glu",
"transcript": "XM_017001802.2",
"protein_id": "XP_016857291.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 358,
"cds_start": 666,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001802.2"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "n.816C>G",
"hgvs_p": null,
"transcript": "ENST00000478770.6",
"protein_id": "ENSP00000424398.1",
"transcript_support_level": 2,
"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": "ENST00000478770.6"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "n.959C>G",
"hgvs_p": null,
"transcript": "ENST00000479263.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000479263.5"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "n.1073C>G",
"hgvs_p": null,
"transcript": "ENST00000505322.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000505322.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "n.1309C>G",
"hgvs_p": null,
"transcript": "NR_146911.2",
"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": "NR_146911.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "n.1621C>G",
"hgvs_p": null,
"transcript": "XR_007061965.1",
"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_007061965.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "n.1597C>G",
"hgvs_p": null,
"transcript": "XR_007061966.1",
"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_007061966.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "n.*37C>G",
"hgvs_p": null,
"transcript": "ENST00000472017.1",
"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": "pseudogene",
"feature": "ENST00000472017.1"
}
],
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"dbsnp": "rs142352833",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.27555811405181885,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.258,
"revel_prediction": "Benign",
"alphamissense_score": 0.5355,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.864,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002744.6",
"gene_symbol": "PRKCZ",
"hgnc_id": 9412,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1377C>G",
"hgvs_p": "p.Asp459Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}