← 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: 2-44321864-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=44321864&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 44321864,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006036.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Pro597His",
"transcript": "NM_001171613.2",
"protein_id": "NP_001165084.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 638,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1953,
"cdna_end": null,
"cdna_length": 5829,
"mane_select": "ENST00000409411.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171613.2"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Pro597His",
"transcript": "ENST00000409411.6",
"protein_id": "ENSP00000387095.2",
"transcript_support_level": 1,
"aa_start": 597,
"aa_end": null,
"aa_length": 638,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1953,
"cdna_end": null,
"cdna_length": 5829,
"mane_select": "NM_001171613.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409411.6"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.2057C>A",
"hgvs_p": "p.Pro686His",
"transcript": "ENST00000260648.10",
"protein_id": "ENSP00000260648.6",
"transcript_support_level": 1,
"aa_start": 686,
"aa_end": null,
"aa_length": 727,
"cds_start": 2057,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 3016,
"cdna_end": null,
"cdna_length": 3672,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260648.10"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.2057C>A",
"hgvs_p": "p.Pro686His",
"transcript": "ENST00000409936.5",
"protein_id": "ENSP00000386543.1",
"transcript_support_level": 1,
"aa_start": 686,
"aa_end": null,
"aa_length": 727,
"cds_start": 2057,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2495,
"cdna_end": null,
"cdna_length": 5212,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409936.5"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1871C>A",
"hgvs_p": "p.Pro624His",
"transcript": "ENST00000378511.7",
"protein_id": "ENSP00000367772.3",
"transcript_support_level": 1,
"aa_start": 624,
"aa_end": null,
"aa_length": 665,
"cds_start": 1871,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1905,
"cdna_end": null,
"cdna_length": 2315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378511.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "n.2057C>A",
"hgvs_p": null,
"transcript": "ENST00000425263.5",
"protein_id": "ENSP00000391456.1",
"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": 5657,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000425263.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "n.2057C>A",
"hgvs_p": null,
"transcript": "ENST00000426481.5",
"protein_id": "ENSP00000409480.1",
"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": 6273,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000426481.5"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.2057C>A",
"hgvs_p": "p.Pro686His",
"transcript": "NM_001171603.1",
"protein_id": "NP_001165074.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 727,
"cds_start": 2057,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2431,
"cdna_end": null,
"cdna_length": 6307,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171603.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.2057C>A",
"hgvs_p": "p.Pro686His",
"transcript": "NM_001171606.2",
"protein_id": "NP_001165077.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 727,
"cds_start": 2057,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2495,
"cdna_end": null,
"cdna_length": 6371,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171606.2"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.2057C>A",
"hgvs_p": "p.Pro686His",
"transcript": "NM_001374275.1",
"protein_id": "NP_001361204.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 727,
"cds_start": 2057,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2170,
"cdna_end": null,
"cdna_length": 6046,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374275.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.2057C>A",
"hgvs_p": "p.Pro686His",
"transcript": "NM_001374276.1",
"protein_id": "NP_001361205.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 727,
"cds_start": 2057,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2207,
"cdna_end": null,
"cdna_length": 6083,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374276.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.2057C>A",
"hgvs_p": "p.Pro686His",
"transcript": "NM_006036.4",
"protein_id": "NP_006027.2",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 727,
"cds_start": 2057,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 3016,
"cdna_end": null,
"cdna_length": 6892,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006036.4"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.2057C>A",
"hgvs_p": "p.Pro686His",
"transcript": "ENST00000409272.5",
"protein_id": "ENSP00000386909.1",
"transcript_support_level": 2,
"aa_start": 686,
"aa_end": null,
"aa_length": 727,
"cds_start": 2057,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2374,
"cdna_end": null,
"cdna_length": 3030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409272.5"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.2057C>A",
"hgvs_p": "p.Pro686His",
"transcript": "ENST00000410081.5",
"protein_id": "ENSP00000386509.1",
"transcript_support_level": 5,
"aa_start": 686,
"aa_end": null,
"aa_length": 727,
"cds_start": 2057,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2519,
"cdna_end": null,
"cdna_length": 3080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410081.5"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1871C>A",
"hgvs_p": "p.Pro624His",
"transcript": "NM_001042385.2",
"protein_id": "NP_001035844.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 665,
"cds_start": 1871,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1905,
"cdna_end": null,
"cdna_length": 5781,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042385.2"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1859C>A",
"hgvs_p": "p.Pro620His",
"transcript": "NM_001042386.2",
"protein_id": "NP_001035845.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 661,
"cds_start": 1859,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1893,
"cdna_end": null,
"cdna_length": 5769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042386.2"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1859C>A",
"hgvs_p": "p.Pro620His",
"transcript": "ENST00000378520.7",
"protein_id": "ENSP00000367781.3",
"transcript_support_level": 5,
"aa_start": 620,
"aa_end": null,
"aa_length": 661,
"cds_start": 1859,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1893,
"cdna_end": null,
"cdna_length": 2308,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378520.7"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Pro597His",
"transcript": "NM_001171617.1",
"protein_id": "NP_001165088.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 638,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2177,
"cdna_end": null,
"cdna_length": 6053,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171617.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Pro597His",
"transcript": "NM_001374277.1",
"protein_id": "NP_001361206.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 638,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1916,
"cdna_end": null,
"cdna_length": 5792,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374277.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Pro597His",
"transcript": "ENST00000409957.5",
"protein_id": "ENSP00000387241.1",
"transcript_support_level": 5,
"aa_start": 597,
"aa_end": null,
"aa_length": 638,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1983,
"cdna_end": null,
"cdna_length": 4703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409957.5"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Pro597His",
"transcript": "ENST00000541738.5",
"protein_id": "ENSP00000439626.1",
"transcript_support_level": 2,
"aa_start": 597,
"aa_end": null,
"aa_length": 638,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2177,
"cdna_end": null,
"cdna_length": 6049,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541738.5"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Pro597His",
"transcript": "ENST00000906097.1",
"protein_id": "ENSP00000576156.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 638,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2111,
"cdna_end": null,
"cdna_length": 4829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906097.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Pro597His",
"transcript": "ENST00000906098.1",
"protein_id": "ENSP00000576157.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 638,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2442,
"cdna_end": null,
"cdna_length": 5156,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906098.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Pro597His",
"transcript": "ENST00000906100.1",
"protein_id": "ENSP00000576159.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 638,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2237,
"cdna_end": null,
"cdna_length": 4957,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906100.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Pro597His",
"transcript": "ENST00000906101.1",
"protein_id": "ENSP00000576160.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 638,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2076,
"cdna_end": null,
"cdna_length": 4796,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906101.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Pro597His",
"transcript": "ENST00000906102.1",
"protein_id": "ENSP00000576161.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 638,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2068,
"cdna_end": null,
"cdna_length": 4788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906102.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Pro597His",
"transcript": "ENST00000906104.1",
"protein_id": "ENSP00000576163.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 638,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2512,
"cdna_end": null,
"cdna_length": 5229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906104.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Pro597His",
"transcript": "ENST00000906106.1",
"protein_id": "ENSP00000576165.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 638,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1981,
"cdna_end": null,
"cdna_length": 4701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906106.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Pro597His",
"transcript": "ENST00000906108.1",
"protein_id": "ENSP00000576167.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 638,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2067,
"cdna_end": null,
"cdna_length": 4787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906108.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Pro597His",
"transcript": "ENST00000906110.1",
"protein_id": "ENSP00000576169.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 638,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2053,
"cdna_end": null,
"cdna_length": 4771,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906110.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Pro597His",
"transcript": "ENST00000906112.1",
"protein_id": "ENSP00000576171.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 638,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2203,
"cdna_end": null,
"cdna_length": 4134,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906112.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Pro597His",
"transcript": "ENST00000906114.1",
"protein_id": "ENSP00000576173.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 638,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2014,
"cdna_end": null,
"cdna_length": 2669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906114.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Pro597His",
"transcript": "ENST00000906115.1",
"protein_id": "ENSP00000576174.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 638,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2555,
"cdna_end": null,
"cdna_length": 3210,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906115.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Pro597His",
"transcript": "ENST00000906117.1",
"protein_id": "ENSP00000576176.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 638,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2126,
"cdna_end": null,
"cdna_length": 2774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906117.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Pro597His",
"transcript": "ENST00000906118.1",
"protein_id": "ENSP00000576177.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 638,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2591,
"cdna_end": null,
"cdna_length": 5310,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906118.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Pro597His",
"transcript": "ENST00000939473.1",
"protein_id": "ENSP00000609532.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 638,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2205,
"cdna_end": null,
"cdna_length": 2863,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939473.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Pro597His",
"transcript": "ENST00000939474.1",
"protein_id": "ENSP00000609533.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 638,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2063,
"cdna_end": null,
"cdna_length": 2713,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939474.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Pro597His",
"transcript": "ENST00000939475.1",
"protein_id": "ENSP00000609534.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 638,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2271,
"cdna_end": null,
"cdna_length": 2920,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939475.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Pro597His",
"transcript": "ENST00000959349.1",
"protein_id": "ENSP00000629408.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 638,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2063,
"cdna_end": null,
"cdna_length": 3902,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959349.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Pro597His",
"transcript": "ENST00000959350.1",
"protein_id": "ENSP00000629409.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 638,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2191,
"cdna_end": null,
"cdna_length": 4020,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959350.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Pro597His",
"transcript": "ENST00000959352.1",
"protein_id": "ENSP00000629411.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 638,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2022,
"cdna_end": null,
"cdna_length": 2676,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959352.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1787C>A",
"hgvs_p": "p.Pro596His",
"transcript": "ENST00000906096.1",
"protein_id": "ENSP00000576155.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 637,
"cds_start": 1787,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 2090,
"cdna_end": null,
"cdna_length": 5966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906096.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1787C>A",
"hgvs_p": "p.Pro596His",
"transcript": "ENST00000906103.1",
"protein_id": "ENSP00000576162.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 637,
"cds_start": 1787,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 2256,
"cdna_end": null,
"cdna_length": 4976,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906103.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1787C>A",
"hgvs_p": "p.Pro596His",
"transcript": "ENST00000906105.1",
"protein_id": "ENSP00000576164.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 637,
"cds_start": 1787,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 1990,
"cdna_end": null,
"cdna_length": 4710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906105.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1787C>A",
"hgvs_p": "p.Pro596His",
"transcript": "ENST00000906107.1",
"protein_id": "ENSP00000576166.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 637,
"cds_start": 1787,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 1935,
"cdna_end": null,
"cdna_length": 4652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906107.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1787C>A",
"hgvs_p": "p.Pro596His",
"transcript": "ENST00000939468.1",
"protein_id": "ENSP00000609527.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 637,
"cds_start": 1787,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 2417,
"cdna_end": null,
"cdna_length": 5137,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939468.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1787C>A",
"hgvs_p": "p.Pro596His",
"transcript": "ENST00000939470.1",
"protein_id": "ENSP00000609529.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 637,
"cds_start": 1787,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 2162,
"cdna_end": null,
"cdna_length": 4879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939470.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1787C>A",
"hgvs_p": "p.Pro596His",
"transcript": "ENST00000939472.1",
"protein_id": "ENSP00000609531.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 637,
"cds_start": 1787,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 2561,
"cdna_end": null,
"cdna_length": 4398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939472.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1787C>A",
"hgvs_p": "p.Pro596His",
"transcript": "ENST00000939476.1",
"protein_id": "ENSP00000609535.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 637,
"cds_start": 1787,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 2048,
"cdna_end": null,
"cdna_length": 2706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939476.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1787C>A",
"hgvs_p": "p.Pro596His",
"transcript": "ENST00000959348.1",
"protein_id": "ENSP00000629407.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 637,
"cds_start": 1787,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 1941,
"cdna_end": null,
"cdna_length": 4660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959348.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1784C>A",
"hgvs_p": "p.Pro595His",
"transcript": "ENST00000906099.1",
"protein_id": "ENSP00000576158.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 636,
"cds_start": 1784,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 2139,
"cdna_end": null,
"cdna_length": 4858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906099.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1784C>A",
"hgvs_p": "p.Pro595His",
"transcript": "ENST00000906111.1",
"protein_id": "ENSP00000576170.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 636,
"cds_start": 1784,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1969,
"cdna_end": null,
"cdna_length": 4403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906111.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1784C>A",
"hgvs_p": "p.Pro595His",
"transcript": "ENST00000906116.1",
"protein_id": "ENSP00000576175.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 636,
"cds_start": 1784,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 2199,
"cdna_end": null,
"cdna_length": 2855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906116.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1784C>A",
"hgvs_p": "p.Pro595His",
"transcript": "ENST00000939467.1",
"protein_id": "ENSP00000609526.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 636,
"cds_start": 1784,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 4825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939467.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1781C>A",
"hgvs_p": "p.Pro594His",
"transcript": "ENST00000906113.1",
"protein_id": "ENSP00000576172.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 635,
"cds_start": 1781,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1966,
"cdna_end": null,
"cdna_length": 3795,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906113.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1643C>A",
"hgvs_p": "p.Pro548His",
"transcript": "ENST00000959346.1",
"protein_id": "ENSP00000629405.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 589,
"cds_start": 1643,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 4554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959346.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1604C>A",
"hgvs_p": "p.Pro535His",
"transcript": "ENST00000959347.1",
"protein_id": "ENSP00000629406.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 576,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1778,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959347.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1604C>A",
"hgvs_p": "p.Pro535His",
"transcript": "ENST00000959351.1",
"protein_id": "ENSP00000629410.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 576,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1730,
"cdna_end": null,
"cdna_length": 2377,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959351.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1592C>A",
"hgvs_p": "p.Pro531His",
"transcript": "ENST00000906109.1",
"protein_id": "ENSP00000576168.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 572,
"cds_start": 1592,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1755,
"cdna_end": null,
"cdna_length": 4475,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906109.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1592C>A",
"hgvs_p": "p.Pro531His",
"transcript": "ENST00000939469.1",
"protein_id": "ENSP00000609528.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 572,
"cds_start": 1592,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1678,
"cdna_end": null,
"cdna_length": 4398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939469.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1406C>A",
"hgvs_p": "p.Pro469His",
"transcript": "ENST00000939471.1",
"protein_id": "ENSP00000609530.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 510,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 1565,
"cdna_end": null,
"cdna_length": 4283,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939471.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.200C>A",
"hgvs_p": "p.Pro67His",
"transcript": "ENST00000420756.1",
"protein_id": "ENSP00000395692.1",
"transcript_support_level": 4,
"aa_start": 67,
"aa_end": null,
"aa_length": 119,
"cds_start": 200,
"cds_end": null,
"cds_length": 360,
"cdna_start": 202,
"cdna_end": null,
"cdna_length": 602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420756.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.2057C>A",
"hgvs_p": "p.Pro686His",
"transcript": "XM_017005385.2",
"protein_id": "XP_016860874.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 727,
"cds_start": 2057,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2458,
"cdna_end": null,
"cdna_length": 6334,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005385.2"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1790C>A",
"hgvs_p": "p.Pro597His",
"transcript": "XM_047446445.1",
"protein_id": "XP_047302401.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 638,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2053,
"cdna_end": null,
"cdna_length": 5929,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446445.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A1",
"gene_hgnc_id": 11025,
"hgvs_c": "c.*3669G>T",
"hgvs_p": null,
"transcript": "XM_011533047.4",
"protein_id": "XP_011531349.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 564,
"cds_start": null,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533047.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.205+867C>A",
"hgvs_p": null,
"transcript": "ENST00000444696.5",
"protein_id": "ENSP00000390618.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 70,
"cds_start": null,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444696.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.2021-419C>A",
"hgvs_p": null,
"transcript": "XM_047446441.1",
"protein_id": "XP_047302397.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": null,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446441.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.2021-419C>A",
"hgvs_p": null,
"transcript": "XM_047446442.1",
"protein_id": "XP_047302398.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": null,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446442.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.2021-419C>A",
"hgvs_p": null,
"transcript": "XM_047446443.1",
"protein_id": "XP_047302399.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": null,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446443.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.2021-419C>A",
"hgvs_p": null,
"transcript": "XM_047446444.1",
"protein_id": "XP_047302400.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": null,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446444.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1754-419C>A",
"hgvs_p": null,
"transcript": "XM_047446446.1",
"protein_id": "XP_047302402.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": null,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5755,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446446.1"
}
],
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"dbsnp": "rs1305157753",
"frequency_reference_population": 0.000002052767,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205277,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7013965845108032,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.201,
"revel_prediction": "Benign",
"alphamissense_score": 0.1931,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.63,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006036.4",
"gene_symbol": "PREPL",
"hgnc_id": 30228,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2057C>A",
"hgvs_p": "p.Pro686His"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "XM_011533047.4",
"gene_symbol": "SLC3A1",
"hgnc_id": 11025,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.*3669G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}