← 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: 1-39748983-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=39748983&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 39748983,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001195007.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "c.589A>C",
"hgvs_p": "p.Met197Leu",
"transcript": "NM_006112.4",
"protein_id": "NP_006103.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 301,
"cds_start": 589,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000324379.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006112.4"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "c.589A>C",
"hgvs_p": "p.Met197Leu",
"transcript": "ENST00000324379.10",
"protein_id": "ENSP00000312769.5",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 301,
"cds_start": 589,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006112.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324379.10"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "c.589A>C",
"hgvs_p": "p.Met197Leu",
"transcript": "ENST00000372830.5",
"protein_id": "ENSP00000361918.1",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 314,
"cds_start": 589,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372830.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "c.589A>C",
"hgvs_p": "p.Met197Leu",
"transcript": "ENST00000356511.6",
"protein_id": "ENSP00000348904.2",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 296,
"cds_start": 589,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356511.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "n.*3843A>C",
"hgvs_p": null,
"transcript": "ENST00000495526.5",
"protein_id": "ENSP00000434989.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000495526.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "n.*3843A>C",
"hgvs_p": null,
"transcript": "ENST00000495526.5",
"protein_id": "ENSP00000434989.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000495526.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "c.652A>C",
"hgvs_p": "p.Met218Leu",
"transcript": "ENST00000915536.1",
"protein_id": "ENSP00000585595.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 322,
"cds_start": 652,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915536.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "c.589A>C",
"hgvs_p": "p.Met197Leu",
"transcript": "NM_001195007.2",
"protein_id": "NP_001181936.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 314,
"cds_start": 589,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195007.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "c.613A>C",
"hgvs_p": "p.Met205Leu",
"transcript": "ENST00000871305.1",
"protein_id": "ENSP00000541364.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 309,
"cds_start": 613,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871305.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "c.613A>C",
"hgvs_p": "p.Met205Leu",
"transcript": "ENST00000871307.1",
"protein_id": "ENSP00000541366.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 309,
"cds_start": 613,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871307.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "c.610A>C",
"hgvs_p": "p.Met204Leu",
"transcript": "ENST00000915538.1",
"protein_id": "ENSP00000585597.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 308,
"cds_start": 610,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915538.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "c.589A>C",
"hgvs_p": "p.Met197Leu",
"transcript": "ENST00000915535.1",
"protein_id": "ENSP00000585594.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 299,
"cds_start": 589,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915535.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "c.589A>C",
"hgvs_p": "p.Met197Leu",
"transcript": "NM_203456.3",
"protein_id": "NP_982281.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 296,
"cds_start": 589,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203456.3"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "c.562A>C",
"hgvs_p": "p.Met188Leu",
"transcript": "ENST00000871306.1",
"protein_id": "ENSP00000541365.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 292,
"cds_start": 562,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871306.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "c.550A>C",
"hgvs_p": "p.Met184Leu",
"transcript": "ENST00000871304.1",
"protein_id": "ENSP00000541363.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 288,
"cds_start": 550,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871304.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "c.550A>C",
"hgvs_p": "p.Met184Leu",
"transcript": "NM_001319293.2",
"protein_id": "NP_001306222.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 283,
"cds_start": 550,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319293.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "c.436A>C",
"hgvs_p": "p.Met146Leu",
"transcript": "ENST00000372835.9",
"protein_id": "ENSP00000361925.5",
"transcript_support_level": 3,
"aa_start": 146,
"aa_end": null,
"aa_length": 250,
"cds_start": 436,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372835.9"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "c.397A>C",
"hgvs_p": "p.Met133Leu",
"transcript": "ENST00000871308.1",
"protein_id": "ENSP00000541367.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 237,
"cds_start": 397,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871308.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "c.391A>C",
"hgvs_p": "p.Met131Leu",
"transcript": "ENST00000497370.5",
"protein_id": "ENSP00000433475.1",
"transcript_support_level": 5,
"aa_start": 131,
"aa_end": null,
"aa_length": 212,
"cds_start": 391,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000497370.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "c.589A>C",
"hgvs_p": "p.Met197Leu",
"transcript": "XM_017000051.3",
"protein_id": "XP_016855540.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 314,
"cds_start": 589,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000051.3"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "c.589A>C",
"hgvs_p": "p.Met197Leu",
"transcript": "XM_047430061.1",
"protein_id": "XP_047286017.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 314,
"cds_start": 589,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430061.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "c.550A>C",
"hgvs_p": "p.Met184Leu",
"transcript": "XM_047430098.1",
"protein_id": "XP_047286054.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 301,
"cds_start": 550,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430098.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "c.550A>C",
"hgvs_p": "p.Met184Leu",
"transcript": "XM_006710290.5",
"protein_id": "XP_006710353.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 288,
"cds_start": 550,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006710290.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "c.391A>C",
"hgvs_p": "p.Met131Leu",
"transcript": "XM_047430138.1",
"protein_id": "XP_047286094.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 248,
"cds_start": 391,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430138.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "c.337A>C",
"hgvs_p": "p.Met113Leu",
"transcript": "XM_047430164.1",
"protein_id": "XP_047286120.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 230,
"cds_start": 337,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430164.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "c.465A>C",
"hgvs_p": "p.Ser155Ser",
"transcript": "ENST00000470213.5",
"protein_id": "ENSP00000431714.1",
"transcript_support_level": 3,
"aa_start": 155,
"aa_end": null,
"aa_length": 208,
"cds_start": 465,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470213.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "c.465A>C",
"hgvs_p": "p.Ser155Ser",
"transcript": "XM_047430203.1",
"protein_id": "XP_047286159.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 208,
"cds_start": 465,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430203.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "c.508+3485A>C",
"hgvs_p": null,
"transcript": "ENST00000915537.1",
"protein_id": "ENSP00000585596.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 239,
"cds_start": null,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915537.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "n.*574A>C",
"hgvs_p": null,
"transcript": "ENST00000474804.5",
"protein_id": "ENSP00000432396.1",
"transcript_support_level": 5,
"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": "ENST00000474804.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "n.*425A>C",
"hgvs_p": null,
"transcript": "ENST00000475350.5",
"protein_id": "ENSP00000434888.1",
"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": "ENST00000475350.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "n.1886A>C",
"hgvs_p": null,
"transcript": "ENST00000482751.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000482751.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "n.600A>C",
"hgvs_p": null,
"transcript": "NR_036543.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_036543.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "n.561A>C",
"hgvs_p": null,
"transcript": "NR_036544.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_036544.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "n.*574A>C",
"hgvs_p": null,
"transcript": "ENST00000474804.5",
"protein_id": "ENSP00000432396.1",
"transcript_support_level": 5,
"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": "ENST00000474804.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"hgvs_c": "n.*425A>C",
"hgvs_p": null,
"transcript": "ENST00000475350.5",
"protein_id": "ENSP00000434888.1",
"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": "ENST00000475350.5"
}
],
"gene_symbol": "PPIE",
"gene_hgnc_id": 9258,
"dbsnp": "rs1159248826",
"frequency_reference_population": 6.8408343e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84083e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9124130606651306,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.574,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9089,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.006,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001195007.2",
"gene_symbol": "PPIE",
"hgnc_id": 9258,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.589A>C",
"hgvs_p": "p.Met197Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}