← 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: 19-11448604-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11448604&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"effects": [
"stop_gained"
],
"gene_symbol": "PRKCSH",
"hgnc_id": 9411,
"hgvs_c": "c.1261C>T",
"hgvs_p": "p.Gln421*",
"inheritance_mode": "AD",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_001289103.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_score": 11,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.51,
"chr": "19",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Polycystic liver disease 1",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5099999904632568,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 535,
"aa_ref": "Q",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2096,
"cdna_start": 1410,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1261,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001289104.2",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1261C>T",
"hgvs_p": "p.Gln421*",
"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": "*",
"aa_end": null,
"aa_length": 535,
"aa_ref": "Q",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2096,
"cdna_start": 1410,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1261,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000677123.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1261C>T",
"hgvs_p": "p.Gln421*",
"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": "*",
"aa_end": null,
"aa_length": 535,
"aa_ref": "Q",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2100,
"cdna_start": 1414,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1261,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000592741.5",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1261C>T",
"hgvs_p": "p.Gln421*",
"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": "*",
"aa_end": null,
"aa_length": 528,
"aa_ref": "Q",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1898,
"cdna_start": 1240,
"cds_end": null,
"cds_length": 1587,
"cds_start": 1240,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000589838.5",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1240C>T",
"hgvs_p": "p.Gln414*",
"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": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1613,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000586486.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "n.256C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000465948.1",
"strand": true,
"transcript": "ENST00000586486.1",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 547,
"aa_ref": "Q",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2123,
"cdna_start": 1440,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1297,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000951516.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Gln433*",
"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": "*",
"aa_end": null,
"aa_length": 542,
"aa_ref": "Q",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2123,
"cdna_start": 1440,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1282,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000852995.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1282C>T",
"hgvs_p": "p.Gln428*",
"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": "*",
"aa_end": null,
"aa_length": 536,
"aa_ref": "Q",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2108,
"cdna_start": 1422,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1264,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000852993.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1264C>T",
"hgvs_p": "p.Gln422*",
"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": "*",
"aa_end": null,
"aa_length": 535,
"aa_ref": "Q",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2100,
"cdna_start": 1414,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1261,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001289103.2",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1261C>T",
"hgvs_p": "p.Gln421*",
"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": "*",
"aa_end": null,
"aa_length": 535,
"aa_ref": "Q",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2257,
"cdna_start": 1571,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1261,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000852989.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1261C>T",
"hgvs_p": "p.Gln421*",
"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": "*",
"aa_end": null,
"aa_length": 535,
"aa_ref": "Q",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3467,
"cdna_start": 1564,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1261,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000852990.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1261C>T",
"hgvs_p": "p.Gln421*",
"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": "*",
"aa_end": null,
"aa_length": 535,
"aa_ref": "Q",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2049,
"cdna_start": 1366,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1261,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000852997.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1261C>T",
"hgvs_p": "p.Gln421*",
"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": "*",
"aa_end": null,
"aa_length": 535,
"aa_ref": "Q",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2058,
"cdna_start": 1376,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1261,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000853001.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1261C>T",
"hgvs_p": "p.Gln421*",
"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": "*",
"aa_end": null,
"aa_length": 535,
"aa_ref": "Q",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2366,
"cdna_start": 1680,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1261,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000853002.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1261C>T",
"hgvs_p": "p.Gln421*",
"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": "*",
"aa_end": null,
"aa_length": 535,
"aa_ref": "Q",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2049,
"cdna_start": 1366,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1261,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000853003.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1261C>T",
"hgvs_p": "p.Gln421*",
"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": "*",
"aa_end": null,
"aa_length": 535,
"aa_ref": "Q",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2273,
"cdna_start": 1590,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1261,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000853004.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1261C>T",
"hgvs_p": "p.Gln421*",
"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": "*",
"aa_end": null,
"aa_length": 535,
"aa_ref": "Q",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2202,
"cdna_start": 1519,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1261,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000853008.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1261C>T",
"hgvs_p": "p.Gln421*",
"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": "*",
"aa_end": null,
"aa_length": 535,
"aa_ref": "Q",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3531,
"cdna_start": 2844,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1261,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000916401.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1261C>T",
"hgvs_p": "p.Gln421*",
"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": "*",
"aa_end": null,
"aa_length": 534,
"aa_ref": "Q",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2261,
"cdna_start": 1579,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1258,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000853007.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1258C>T",
"hgvs_p": "p.Gln420*",
"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": "*",
"aa_end": null,
"aa_length": 528,
"aa_ref": "Q",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2079,
"cdna_start": 1393,
"cds_end": null,
"cds_length": 1587,
"cds_start": 1240,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001379608.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1240C>T",
"hgvs_p": "p.Gln414*",
"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": "*",
"aa_end": null,
"aa_length": 528,
"aa_ref": "Q",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2065,
"cdna_start": 1379,
"cds_end": null,
"cds_length": 1587,
"cds_start": 1240,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_002743.3",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1240C>T",
"hgvs_p": "p.Gln414*",
"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": "*",
"aa_end": null,
"aa_length": 528,
"aa_ref": "Q",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3283,
"cdna_start": 1383,
"cds_end": null,
"cds_length": 1587,
"cds_start": 1240,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000852999.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1240C>T",
"hgvs_p": "p.Gln414*",
"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": "*",
"aa_end": null,
"aa_length": 528,
"aa_ref": "Q",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2029,
"cdna_start": 1563,
"cds_end": null,
"cds_length": 1587,
"cds_start": 1240,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000853009.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1240C>T",
"hgvs_p": "p.Gln414*",
"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": "*",
"aa_end": null,
"aa_length": 527,
"aa_ref": "Q",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2083,
"cdna_start": 1397,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1237,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000951514.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1237C>T",
"hgvs_p": "p.Gln413*",
"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": "*",
"aa_end": null,
"aa_length": 525,
"aa_ref": "Q",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2066,
"cdna_start": 1380,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1231,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001001329.3",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.Gln411*",
"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": "*",
"aa_end": null,
"aa_length": 525,
"aa_ref": "Q",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1962,
"cdna_start": 1276,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1231,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001289102.2",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.Gln411*",
"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": "*",
"aa_end": null,
"aa_length": 525,
"aa_ref": "Q",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2070,
"cdna_start": 1384,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1231,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001379609.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.Gln411*",
"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": "*",
"aa_end": null,
"aa_length": 525,
"aa_ref": "Q",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2189,
"cdna_start": 1604,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1231,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000587327.5",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.Gln411*",
"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": "*",
"aa_end": null,
"aa_length": 525,
"aa_ref": "Q",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2063,
"cdna_start": 1380,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1231,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000591462.6",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.Gln411*",
"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": "*",
"aa_end": null,
"aa_length": 525,
"aa_ref": "Q",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2220,
"cdna_start": 1534,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1231,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000852991.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.Gln411*",
"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": "*",
"aa_end": null,
"aa_length": 525,
"aa_ref": "Q",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2396,
"cdna_start": 1710,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1231,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000852992.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.Gln411*",
"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": "*",
"aa_end": null,
"aa_length": 525,
"aa_ref": "Q",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2040,
"cdna_start": 1354,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1231,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000852994.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.Gln411*",
"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": "*",
"aa_end": null,
"aa_length": 525,
"aa_ref": "Q",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3277,
"cdna_start": 1374,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1231,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000852996.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.Gln411*",
"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": "*",
"aa_end": null,
"aa_length": 525,
"aa_ref": "Q",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2012,
"cdna_start": 1328,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1231,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000853005.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.Gln411*",
"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": "*",
"aa_end": null,
"aa_length": 525,
"aa_ref": "Q",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2237,
"cdna_start": 1554,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1231,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000853006.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.Gln411*",
"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": "*",
"aa_end": null,
"aa_length": 518,
"aa_ref": "Q",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2036,
"cdna_start": 1353,
"cds_end": null,
"cds_length": 1557,
"cds_start": 1210,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000852998.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1210C>T",
"hgvs_p": "p.Gln404*",
"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": "*",
"aa_end": null,
"aa_length": 500,
"aa_ref": "Q",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1950,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1156,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000951517.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Gln386*",
"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": "*",
"aa_end": null,
"aa_length": 499,
"aa_ref": "Q",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1994,
"cdna_start": 1311,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1153,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000951515.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.1153C>T",
"hgvs_p": "p.Gln385*",
"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": "*",
"aa_end": null,
"aa_length": 322,
"aa_ref": "Q",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1449,
"cdna_start": 763,
"cds_end": null,
"cds_length": 969,
"cds_start": 622,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000853000.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "c.622C>T",
"hgvs_p": "p.Gln208*",
"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": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 780,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000587290.5",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "n.423C>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": "ENST00000587290.5",
"transcript_support_level": 2
},
{
"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": 795,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000590098.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "n.607C>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": "ENST00000590098.1",
"transcript_support_level": 2
},
{
"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": 358,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000592435.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "n.68C>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": "ENST00000592435.1",
"transcript_support_level": 5
},
{
"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": 501,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000585540.1",
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"hgvs_c": "n.*199C>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": "ENST00000585540.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs121918519",
"effect": "stop_gained",
"frequency_reference_population": 6.8406e-7,
"gene_hgnc_id": 9411,
"gene_symbol": "PRKCSH",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.8406e-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": "Pathogenic",
"phenotype_combined": "Polycystic liver disease 1",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.133,
"pos": 11448604,
"ref": "C",
"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"
}
]
}