← 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: 11-66870409-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66870409&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 66870409,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000920.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "NM_001040716.2",
"protein_id": "NP_001035806.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393960.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040716.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000393960.7",
"protein_id": "ENSP00000377532.1",
"transcript_support_level": 5,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001040716.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393960.7"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000393955.6",
"protein_id": "ENSP00000377527.2",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393955.6"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000393958.7",
"protein_id": "ENSP00000377530.2",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393958.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "n.290-20344T>A",
"hgvs_p": null,
"transcript": "ENST00000525476.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000525476.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000882265.1",
"protein_id": "ENSP00000552324.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1247,
"cds_start": 796,
"cds_end": null,
"cds_length": 3744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882265.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000951202.1",
"protein_id": "ENSP00000621261.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1247,
"cds_start": 796,
"cds_end": null,
"cds_length": 3744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951202.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "NM_000920.4",
"protein_id": "NP_000911.2",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000920.4"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "NM_001439352.1",
"protein_id": "NP_001426281.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439352.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "NM_001439353.1",
"protein_id": "NP_001426282.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439353.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "NM_001439355.1",
"protein_id": "NP_001426284.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439355.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "NM_001439357.1",
"protein_id": "NP_001426286.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439357.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "NM_001439358.1",
"protein_id": "NP_001426287.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439358.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "NM_001439359.1",
"protein_id": "NP_001426288.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439359.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "NM_022172.3",
"protein_id": "NP_071504.2",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022172.3"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000529047.6",
"protein_id": "ENSP00000435905.2",
"transcript_support_level": 3,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529047.6"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000651036.1",
"protein_id": "ENSP00000498406.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651036.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000651854.1",
"protein_id": "ENSP00000498994.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651854.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000652125.1",
"protein_id": "ENSP00000498302.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652125.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000882252.1",
"protein_id": "ENSP00000552311.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882252.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000882253.1",
"protein_id": "ENSP00000552312.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882253.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000882254.1",
"protein_id": "ENSP00000552313.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882254.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000882255.1",
"protein_id": "ENSP00000552314.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882255.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000882256.1",
"protein_id": "ENSP00000552315.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882256.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000882259.1",
"protein_id": "ENSP00000552318.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882259.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000882261.1",
"protein_id": "ENSP00000552320.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882261.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000882262.1",
"protein_id": "ENSP00000552321.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882262.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000882266.1",
"protein_id": "ENSP00000552325.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882266.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000882267.1",
"protein_id": "ENSP00000552326.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882267.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000882270.1",
"protein_id": "ENSP00000552329.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882270.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000882271.1",
"protein_id": "ENSP00000552330.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882271.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000882272.1",
"protein_id": "ENSP00000552331.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882272.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000882273.1",
"protein_id": "ENSP00000552332.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882273.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000882274.1",
"protein_id": "ENSP00000552333.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882274.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000882275.1",
"protein_id": "ENSP00000552334.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882275.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000882276.1",
"protein_id": "ENSP00000552335.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882276.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000882277.1",
"protein_id": "ENSP00000552336.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882277.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000882278.1",
"protein_id": "ENSP00000552337.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882278.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000951199.1",
"protein_id": "ENSP00000621258.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951199.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000951200.1",
"protein_id": "ENSP00000621259.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951200.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000951201.1",
"protein_id": "ENSP00000621260.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951201.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000951203.1",
"protein_id": "ENSP00000621262.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951203.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000951206.1",
"protein_id": "ENSP00000621265.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951206.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000951207.1",
"protein_id": "ENSP00000621266.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951207.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000951208.1",
"protein_id": "ENSP00000621267.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951208.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.787T>A",
"hgvs_p": "p.Ser263Thr",
"transcript": "ENST00000951205.1",
"protein_id": "ENSP00000621264.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 1175,
"cds_start": 787,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951205.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000882258.1",
"protein_id": "ENSP00000552317.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1170,
"cds_start": 796,
"cds_end": null,
"cds_length": 3513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882258.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000882268.1",
"protein_id": "ENSP00000552327.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1170,
"cds_start": 796,
"cds_end": null,
"cds_length": 3513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882268.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000882269.1",
"protein_id": "ENSP00000552328.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1170,
"cds_start": 796,
"cds_end": null,
"cds_length": 3513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882269.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.772T>A",
"hgvs_p": "p.Ser258Thr",
"transcript": "ENST00000939721.1",
"protein_id": "ENSP00000609780.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 1170,
"cds_start": 772,
"cds_end": null,
"cds_length": 3513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939721.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000882260.1",
"protein_id": "ENSP00000552319.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1149,
"cds_start": 796,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882260.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000951204.1",
"protein_id": "ENSP00000621263.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1149,
"cds_start": 796,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951204.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000882264.1",
"protein_id": "ENSP00000552323.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1148,
"cds_start": 796,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882264.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000882257.1",
"protein_id": "ENSP00000552316.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1123,
"cds_start": 796,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882257.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000951198.1",
"protein_id": "ENSP00000621257.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1112,
"cds_start": 796,
"cds_end": null,
"cds_length": 3339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951198.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000882263.1",
"protein_id": "ENSP00000552322.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1083,
"cds_start": 796,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882263.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000524491.6",
"protein_id": "ENSP00000434192.2",
"transcript_support_level": 2,
"aa_start": 266,
"aa_end": null,
"aa_length": 529,
"cds_start": 796,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524491.6"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.676T>A",
"hgvs_p": "p.Ser226Thr",
"transcript": "ENST00000628663.1",
"protein_id": "ENSP00000486373.1",
"transcript_support_level": 5,
"aa_start": 226,
"aa_end": null,
"aa_length": 489,
"cds_start": 676,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628663.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "ENST00000528403.6",
"protein_id": "ENSP00000498816.1",
"transcript_support_level": 2,
"aa_start": 266,
"aa_end": null,
"aa_length": 482,
"cds_start": 796,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528403.6"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "XM_005274031.5",
"protein_id": "XP_005274088.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274031.5"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "XM_005274032.5",
"protein_id": "XP_005274089.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274032.5"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr",
"transcript": "XM_017017869.2",
"protein_id": "XP_016873358.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1178,
"cds_start": 796,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017869.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "n.796T>A",
"hgvs_p": null,
"transcript": "ENST00000528224.2",
"protein_id": "ENSP00000498317.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000528224.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "n.796T>A",
"hgvs_p": null,
"transcript": "ENST00000651469.1",
"protein_id": "ENSP00000498712.1",
"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": "ENST00000651469.1"
}
],
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"dbsnp": "rs113994142",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9408693909645081,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.894,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4092,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.935,
"phylop100way_prediction": "Uncertain_significance",
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_000920.4",
"gene_symbol": "PC",
"hgnc_id": 8636,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.796T>A",
"hgvs_p": "p.Ser266Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}