← 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: 3-53189986-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=53189986&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 53189986,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001354676.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "NM_006254.4",
"protein_id": "NP_006245.2",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 676,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000330452.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006254.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "ENST00000330452.8",
"protein_id": "ENSP00000331602.3",
"transcript_support_level": 1,
"aa_start": 619,
"aa_end": null,
"aa_length": 676,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006254.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330452.8"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "ENST00000394729.6",
"protein_id": "ENSP00000378217.2",
"transcript_support_level": 1,
"aa_start": 619,
"aa_end": null,
"aa_length": 676,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394729.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1914T>C",
"hgvs_p": "p.Pro638Pro",
"transcript": "NM_001354676.2",
"protein_id": "NP_001341605.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 695,
"cds_start": 1914,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354676.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1905T>C",
"hgvs_p": "p.Pro635Pro",
"transcript": "NM_001354678.2",
"protein_id": "NP_001341607.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 692,
"cds_start": 1905,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354678.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1893T>C",
"hgvs_p": "p.Pro631Pro",
"transcript": "ENST00000949465.1",
"protein_id": "ENSP00000619524.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 688,
"cds_start": 1893,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949465.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "NM_001316327.2",
"protein_id": "NP_001303256.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 676,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316327.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "NM_001354679.2",
"protein_id": "NP_001341608.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 676,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354679.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "NM_001354680.2",
"protein_id": "NP_001341609.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 676,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354680.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "NM_212539.2",
"protein_id": "NP_997704.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 676,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_212539.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "ENST00000650739.1",
"protein_id": "ENSP00000498623.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 676,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650739.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "ENST00000652449.1",
"protein_id": "ENSP00000498400.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 676,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652449.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "ENST00000654719.1",
"protein_id": "ENSP00000499558.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 676,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000654719.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "ENST00000883492.1",
"protein_id": "ENSP00000553551.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 676,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883492.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "ENST00000883493.1",
"protein_id": "ENSP00000553552.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 676,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883493.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "ENST00000928339.1",
"protein_id": "ENSP00000598398.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 676,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928339.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "ENST00000949457.1",
"protein_id": "ENSP00000619516.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 676,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949457.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "ENST00000949458.1",
"protein_id": "ENSP00000619517.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 676,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949458.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "ENST00000949459.1",
"protein_id": "ENSP00000619518.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 676,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949459.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "ENST00000949462.1",
"protein_id": "ENSP00000619521.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 676,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949462.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "ENST00000949466.1",
"protein_id": "ENSP00000619525.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 676,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949466.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "ENST00000949467.1",
"protein_id": "ENSP00000619526.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 676,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949467.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "ENST00000949468.1",
"protein_id": "ENSP00000619527.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 676,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949468.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "ENST00000949469.1",
"protein_id": "ENSP00000619528.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 676,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949469.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "ENST00000949470.1",
"protein_id": "ENSP00000619529.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 676,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949470.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "ENST00000949471.1",
"protein_id": "ENSP00000619530.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 676,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949471.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "ENST00000949472.1",
"protein_id": "ENSP00000619531.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 676,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949472.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "ENST00000949473.1",
"protein_id": "ENSP00000619532.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 676,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949473.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "ENST00000949474.1",
"protein_id": "ENSP00000619533.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 676,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949474.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "ENST00000949475.1",
"protein_id": "ENSP00000619534.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 676,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949475.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "ENST00000949476.1",
"protein_id": "ENSP00000619535.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 676,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949476.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1851T>C",
"hgvs_p": "p.Pro617Pro",
"transcript": "ENST00000949463.1",
"protein_id": "ENSP00000619522.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 674,
"cds_start": 1851,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949463.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1848T>C",
"hgvs_p": "p.Pro616Pro",
"transcript": "ENST00000928337.1",
"protein_id": "ENSP00000598396.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 673,
"cds_start": 1848,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928337.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1830T>C",
"hgvs_p": "p.Pro610Pro",
"transcript": "ENST00000883491.1",
"protein_id": "ENSP00000553550.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 667,
"cds_start": 1830,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883491.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1830T>C",
"hgvs_p": "p.Pro610Pro",
"transcript": "ENST00000928340.1",
"protein_id": "ENSP00000598399.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 667,
"cds_start": 1830,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928340.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1794T>C",
"hgvs_p": "p.Pro598Pro",
"transcript": "ENST00000928336.1",
"protein_id": "ENSP00000598395.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 655,
"cds_start": 1794,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928336.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1794T>C",
"hgvs_p": "p.Pro598Pro",
"transcript": "ENST00000949461.1",
"protein_id": "ENSP00000619520.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 655,
"cds_start": 1794,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949461.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1794T>C",
"hgvs_p": "p.Pro598Pro",
"transcript": "ENST00000949464.1",
"protein_id": "ENSP00000619523.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 655,
"cds_start": 1794,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949464.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1668T>C",
"hgvs_p": "p.Pro556Pro",
"transcript": "ENST00000949460.1",
"protein_id": "ENSP00000619519.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 613,
"cds_start": 1668,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949460.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1641T>C",
"hgvs_p": "p.Pro547Pro",
"transcript": "ENST00000928338.1",
"protein_id": "ENSP00000598397.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 604,
"cds_start": 1641,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928338.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.1857T>C",
"hgvs_p": "p.Pro619Pro",
"transcript": "XM_047448564.1",
"protein_id": "XP_047304520.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 676,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448564.1"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "n.*1261T>C",
"hgvs_p": null,
"transcript": "ENST00000651505.1",
"protein_id": "ENSP00000498262.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651505.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "n.*685T>C",
"hgvs_p": null,
"transcript": "ENST00000697588.1",
"protein_id": "ENSP00000513355.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000697588.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "n.1861T>C",
"hgvs_p": null,
"transcript": "ENST00000697589.1",
"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": "retained_intron",
"feature": "ENST00000697589.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "n.856T>C",
"hgvs_p": null,
"transcript": "ENST00000697590.1",
"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": "retained_intron",
"feature": "ENST00000697590.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "n.*1261T>C",
"hgvs_p": null,
"transcript": "ENST00000651505.1",
"protein_id": "ENSP00000498262.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651505.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "n.*685T>C",
"hgvs_p": null,
"transcript": "ENST00000697588.1",
"protein_id": "ENSP00000513355.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000697588.1"
}
],
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"dbsnp": "rs900495",
"frequency_reference_population": 0.990099,
"hom_count_reference_population": 792337,
"allele_count_reference_population": 1598200,
"gnomad_exomes_af": 0.994535,
"gnomad_genomes_af": 0.947526,
"gnomad_exomes_ac": 1453869,
"gnomad_genomes_ac": 144331,
"gnomad_exomes_homalt": 723514,
"gnomad_genomes_homalt": 68823,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6600000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.675,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001354676.2",
"gene_symbol": "PRKCD",
"hgnc_id": 9399,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1914T>C",
"hgvs_p": "p.Pro638Pro"
}
],
"clinvar_disease": " type III caused by mutation in PRKCD,Autoimmune lymphoproliferative syndrome,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6 O:1",
"phenotype_combined": "not specified|Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}