← 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: 3-53189911-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=53189911&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PRKCD",
"hgnc_id": 9399,
"hgvs_c": "c.1839C>T",
"hgvs_p": "p.Thr613Thr",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_001354676.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4399999976158142,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2833,
"cdna_start": 2133,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_006254.4",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000330452.8",
"protein_coding": true,
"protein_id": "NP_006245.2",
"strand": true,
"transcript": "NM_006254.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2833,
"cdna_start": 2133,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000330452.8",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006254.4",
"protein_coding": true,
"protein_id": "ENSP00000331602.3",
"strand": true,
"transcript": "ENST00000330452.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2810,
"cdna_start": 2110,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000394729.6",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378217.2",
"strand": true,
"transcript": "ENST00000394729.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 695,
"aa_ref": "T",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2619,
"cdna_start": 1919,
"cds_end": null,
"cds_length": 2088,
"cds_start": 1839,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001354676.2",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1839C>T",
"hgvs_p": "p.Thr613Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341605.1",
"strand": true,
"transcript": "NM_001354676.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 692,
"aa_ref": "T",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2610,
"cdna_start": 1910,
"cds_end": null,
"cds_length": 2079,
"cds_start": 1830,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001354678.2",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1830C>T",
"hgvs_p": "p.Thr610Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341607.1",
"strand": true,
"transcript": "NM_001354678.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 688,
"aa_ref": "T",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2588,
"cdna_start": 1890,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1818,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000949465.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1818C>T",
"hgvs_p": "p.Thr606Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619524.1",
"strand": true,
"transcript": "ENST00000949465.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2682,
"cdna_start": 1982,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001316327.2",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001303256.1",
"strand": true,
"transcript": "NM_001316327.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2837,
"cdna_start": 2137,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001354679.2",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341608.1",
"strand": true,
"transcript": "NM_001354679.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2949,
"cdna_start": 2249,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001354680.2",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341609.1",
"strand": true,
"transcript": "NM_001354680.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2721,
"cdna_start": 2021,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_212539.2",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_997704.1",
"strand": true,
"transcript": "NM_212539.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2531,
"cdna_start": 1990,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000650739.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498623.1",
"strand": true,
"transcript": "ENST00000650739.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2711,
"cdna_start": 2241,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000652449.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498400.1",
"strand": true,
"transcript": "ENST00000652449.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2262,
"cdna_start": 1825,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000654719.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499558.1",
"strand": true,
"transcript": "ENST00000654719.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2755,
"cdna_start": 2239,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000883492.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553551.1",
"strand": true,
"transcript": "ENST00000883492.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2651,
"cdna_start": 2015,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000883493.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553552.1",
"strand": true,
"transcript": "ENST00000883493.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2814,
"cdna_start": 2114,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000928339.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598398.1",
"strand": true,
"transcript": "ENST00000928339.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2702,
"cdna_start": 2187,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000949457.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619516.1",
"strand": true,
"transcript": "ENST00000949457.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2882,
"cdna_start": 2184,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000949458.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619517.1",
"strand": true,
"transcript": "ENST00000949458.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2915,
"cdna_start": 2215,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000949459.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619518.1",
"strand": true,
"transcript": "ENST00000949459.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2674,
"cdna_start": 2003,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000949462.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619521.1",
"strand": true,
"transcript": "ENST00000949462.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2752,
"cdna_start": 2227,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000949466.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619525.1",
"strand": true,
"transcript": "ENST00000949466.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2559,
"cdna_start": 1859,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000949467.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619526.1",
"strand": true,
"transcript": "ENST00000949467.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2690,
"cdna_start": 1992,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000949468.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619527.1",
"strand": true,
"transcript": "ENST00000949468.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2571,
"cdna_start": 1963,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000949469.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619528.1",
"strand": true,
"transcript": "ENST00000949469.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2711,
"cdna_start": 2112,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000949470.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619529.1",
"strand": true,
"transcript": "ENST00000949470.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2573,
"cdna_start": 1873,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000949471.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619530.1",
"strand": true,
"transcript": "ENST00000949471.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2621,
"cdna_start": 2013,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000949472.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619531.1",
"strand": true,
"transcript": "ENST00000949472.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2618,
"cdna_start": 1920,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000949473.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619532.1",
"strand": true,
"transcript": "ENST00000949473.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2896,
"cdna_start": 2199,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000949474.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619533.1",
"strand": true,
"transcript": "ENST00000949474.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2787,
"cdna_start": 2186,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000949475.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619534.1",
"strand": true,
"transcript": "ENST00000949475.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5050,
"cdna_start": 4350,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000949476.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619535.1",
"strand": true,
"transcript": "ENST00000949476.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 674,
"aa_ref": "T",
"aa_start": 592,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2667,
"cdna_start": 2032,
"cds_end": null,
"cds_length": 2025,
"cds_start": 1776,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000949463.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1776C>T",
"hgvs_p": "p.Thr592Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619522.1",
"strand": true,
"transcript": "ENST00000949463.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 673,
"aa_ref": "T",
"aa_start": 591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2710,
"cdna_start": 2010,
"cds_end": null,
"cds_length": 2022,
"cds_start": 1773,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000928337.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1773C>T",
"hgvs_p": "p.Thr591Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598396.1",
"strand": true,
"transcript": "ENST00000928337.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 667,
"aa_ref": "T",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2630,
"cdna_start": 1994,
"cds_end": null,
"cds_length": 2004,
"cds_start": 1755,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000883491.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1755C>T",
"hgvs_p": "p.Thr585Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553550.1",
"strand": true,
"transcript": "ENST00000883491.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 667,
"aa_ref": "T",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2629,
"cdna_start": 2097,
"cds_end": null,
"cds_length": 2004,
"cds_start": 1755,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000928340.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1755C>T",
"hgvs_p": "p.Thr585Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598399.1",
"strand": true,
"transcript": "ENST00000928340.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 655,
"aa_ref": "T",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2770,
"cdna_start": 2070,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1719,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000928336.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1719C>T",
"hgvs_p": "p.Thr573Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598395.1",
"strand": true,
"transcript": "ENST00000928336.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 655,
"aa_ref": "T",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2648,
"cdna_start": 1950,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1719,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000949461.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1719C>T",
"hgvs_p": "p.Thr573Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619520.1",
"strand": true,
"transcript": "ENST00000949461.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 655,
"aa_ref": "T",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2671,
"cdna_start": 2070,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1719,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000949464.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1719C>T",
"hgvs_p": "p.Thr573Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619523.1",
"strand": true,
"transcript": "ENST00000949464.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 613,
"aa_ref": "T",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2524,
"cdna_start": 1824,
"cds_end": null,
"cds_length": 1842,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000949460.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1593C>T",
"hgvs_p": "p.Thr531Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619519.1",
"strand": true,
"transcript": "ENST00000949460.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 604,
"aa_ref": "T",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2498,
"cdna_start": 1798,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1566,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000928338.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1566C>T",
"hgvs_p": "p.Thr522Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598397.1",
"strand": true,
"transcript": "ENST00000928338.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 676,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5235,
"cdna_start": 4535,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047448564.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304520.1",
"strand": true,
"transcript": "XM_047448564.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2083,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000651505.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "n.*1186C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498262.1",
"strand": true,
"transcript": "ENST00000651505.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2869,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000697588.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "n.*610C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000513355.1",
"strand": true,
"transcript": "ENST00000697588.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2446,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000697589.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "n.1786C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000697589.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1386,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000697590.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "n.781C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000697590.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2083,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000651505.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "n.*1186C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498262.1",
"strand": true,
"transcript": "ENST00000651505.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2869,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000697588.1",
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"hgvs_c": "n.*610C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000513355.1",
"strand": true,
"transcript": "ENST00000697588.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1075865",
"effect": "synonymous_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 9399,
"gene_symbol": "PRKCD",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.683,
"pos": 53189911,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_001354676.2"
}
]
}