← 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: 19-11436132-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11436132&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PRKCSH",
"hgnc_id": 9411,
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_001289103.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.83,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8299999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 535,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2096,
"cdna_start": 164,
"cds_end": null,
"cds_length": 1608,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001289104.2",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000677123.1",
"protein_coding": true,
"protein_id": "NP_001276033.1",
"strand": true,
"transcript": "NM_001289104.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 535,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2096,
"cdna_start": 164,
"cds_end": null,
"cds_length": 1608,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000677123.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001289104.2",
"protein_coding": true,
"protein_id": "ENSP00000503163.1",
"strand": true,
"transcript": "ENST00000677123.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 535,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2100,
"cdna_start": 168,
"cds_end": null,
"cds_length": 1608,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000592741.5",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466134.1",
"strand": true,
"transcript": "ENST00000592741.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 528,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1898,
"cdna_start": 15,
"cds_end": null,
"cds_length": 1587,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000589838.5",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465461.1",
"strand": true,
"transcript": "ENST00000589838.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 547,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2123,
"cdna_start": 158,
"cds_end": null,
"cds_length": 1644,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000951516.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621575.1",
"strand": true,
"transcript": "ENST00000951516.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 542,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2123,
"cdna_start": 173,
"cds_end": null,
"cds_length": 1629,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000852995.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523054.1",
"strand": true,
"transcript": "ENST00000852995.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 536,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2108,
"cdna_start": 173,
"cds_end": null,
"cds_length": 1611,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000852993.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523052.1",
"strand": true,
"transcript": "ENST00000852993.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 535,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2100,
"cdna_start": 168,
"cds_end": null,
"cds_length": 1608,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001289103.2",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276032.1",
"strand": true,
"transcript": "NM_001289103.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 535,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2257,
"cdna_start": 325,
"cds_end": null,
"cds_length": 1608,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852989.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523048.1",
"strand": true,
"transcript": "ENST00000852989.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 535,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3467,
"cdna_start": 318,
"cds_end": null,
"cds_length": 1608,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852990.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523049.1",
"strand": true,
"transcript": "ENST00000852990.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 535,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2049,
"cdna_start": 120,
"cds_end": null,
"cds_length": 1608,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000852997.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523056.1",
"strand": true,
"transcript": "ENST00000852997.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 535,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2058,
"cdna_start": 130,
"cds_end": null,
"cds_length": 1608,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000853001.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523060.1",
"strand": true,
"transcript": "ENST00000853001.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 535,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2366,
"cdna_start": 434,
"cds_end": null,
"cds_length": 1608,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000853002.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523061.1",
"strand": true,
"transcript": "ENST00000853002.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 535,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2049,
"cdna_start": 120,
"cds_end": null,
"cds_length": 1608,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000853003.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523062.1",
"strand": true,
"transcript": "ENST00000853003.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 535,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2273,
"cdna_start": 344,
"cds_end": null,
"cds_length": 1608,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000853004.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523063.1",
"strand": true,
"transcript": "ENST00000853004.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 535,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2202,
"cdna_start": 273,
"cds_end": null,
"cds_length": 1608,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000853008.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523067.1",
"strand": true,
"transcript": "ENST00000853008.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 535,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3531,
"cdna_start": 1598,
"cds_end": null,
"cds_length": 1608,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000916401.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586460.1",
"strand": true,
"transcript": "ENST00000916401.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 534,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2261,
"cdna_start": 336,
"cds_end": null,
"cds_length": 1605,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000853007.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523066.1",
"strand": true,
"transcript": "ENST00000853007.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 528,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2079,
"cdna_start": 168,
"cds_end": null,
"cds_length": 1587,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001379608.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366537.1",
"strand": true,
"transcript": "NM_001379608.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 528,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2065,
"cdna_start": 154,
"cds_end": null,
"cds_length": 1587,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_002743.3",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002734.2",
"strand": true,
"transcript": "NM_002743.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 528,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3283,
"cdna_start": 158,
"cds_end": null,
"cds_length": 1587,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000852999.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523058.1",
"strand": true,
"transcript": "ENST00000852999.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 528,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2029,
"cdna_start": 338,
"cds_end": null,
"cds_length": 1587,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000853009.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523068.1",
"strand": true,
"transcript": "ENST00000853009.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 527,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2083,
"cdna_start": 175,
"cds_end": null,
"cds_length": 1584,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000951514.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621573.1",
"strand": true,
"transcript": "ENST00000951514.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 525,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2066,
"cdna_start": 164,
"cds_end": null,
"cds_length": 1578,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001001329.3",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001001329.1",
"strand": true,
"transcript": "NM_001001329.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 525,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1962,
"cdna_start": 60,
"cds_end": null,
"cds_length": 1578,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001289102.2",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276031.1",
"strand": true,
"transcript": "NM_001289102.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 525,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2070,
"cdna_start": 168,
"cds_end": null,
"cds_length": 1578,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001379609.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366538.1",
"strand": true,
"transcript": "NM_001379609.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 525,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2189,
"cdna_start": 388,
"cds_end": null,
"cds_length": 1578,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000587327.5",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466012.1",
"strand": true,
"transcript": "ENST00000587327.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 525,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2063,
"cdna_start": 164,
"cds_end": null,
"cds_length": 1578,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000591462.6",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465489.1",
"strand": true,
"transcript": "ENST00000591462.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 525,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2220,
"cdna_start": 318,
"cds_end": null,
"cds_length": 1578,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852991.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523050.1",
"strand": true,
"transcript": "ENST00000852991.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 525,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2396,
"cdna_start": 494,
"cds_end": null,
"cds_length": 1578,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000852992.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523051.1",
"strand": true,
"transcript": "ENST00000852992.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 525,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2040,
"cdna_start": 138,
"cds_end": null,
"cds_length": 1578,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000852994.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523053.1",
"strand": true,
"transcript": "ENST00000852994.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 525,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3277,
"cdna_start": 158,
"cds_end": null,
"cds_length": 1578,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000852996.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523055.1",
"strand": true,
"transcript": "ENST00000852996.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 525,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2012,
"cdna_start": 112,
"cds_end": null,
"cds_length": 1578,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000853005.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523064.1",
"strand": true,
"transcript": "ENST00000853005.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 525,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2237,
"cdna_start": 338,
"cds_end": null,
"cds_length": 1578,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000853006.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523065.1",
"strand": true,
"transcript": "ENST00000853006.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 518,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2036,
"cdna_start": 158,
"cds_end": null,
"cds_length": 1557,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000852998.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523057.1",
"strand": true,
"transcript": "ENST00000852998.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 500,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1950,
"cdna_start": 127,
"cds_end": null,
"cds_length": 1503,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000951517.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621576.1",
"strand": true,
"transcript": "ENST00000951517.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 499,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1994,
"cdna_start": 173,
"cds_end": null,
"cds_length": 1500,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000951515.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621574.1",
"strand": true,
"transcript": "ENST00000951515.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 322,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1449,
"cdna_start": 156,
"cds_end": null,
"cds_length": 969,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000853000.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523059.1",
"strand": true,
"transcript": "ENST00000853000.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 170,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 814,
"cdna_start": 314,
"cds_end": null,
"cds_length": 515,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000676823.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503072.1",
"strand": true,
"transcript": "ENST00000676823.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 167,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 625,
"cdna_start": 135,
"cds_end": null,
"cds_length": 505,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000589126.5",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467566.1",
"strand": true,
"transcript": "ENST00000589126.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 143,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 578,
"cdna_start": 161,
"cds_end": null,
"cds_length": 432,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000593101.5",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465047.1",
"strand": true,
"transcript": "ENST00000593101.5",
"transcript_support_level": 4
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 139,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 545,
"cdna_start": 138,
"cds_end": null,
"cds_length": 422,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000587509.5",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465821.1",
"strand": true,
"transcript": "ENST00000587509.5",
"transcript_support_level": 4
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 131,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 557,
"cdna_start": 175,
"cds_end": null,
"cds_length": 397,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000588269.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465889.1",
"strand": true,
"transcript": "ENST00000588269.1",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 61,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 569,
"cdna_start": 398,
"cds_end": null,
"cds_length": 186,
"cds_start": 15,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000591946.5",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.15G>T",
"hgvs_p": "p.Leu5Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464835.1",
"strand": true,
"transcript": "ENST00000591946.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 588,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000593053.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "n.167G>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": "ENST00000593053.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 545,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000593104.5",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "n.173G>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": "ENST00000593104.5",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs754740617",
"effect": "synonymous_variant",
"frequency_reference_population": 6.8680373e-7,
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.86804e-7,
"gnomad_exomes_homalt": 0,
"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": 0.105,
"pos": 11436132,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001289103.2"
}
]
}