← 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: 2-44322828-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=44322828&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 44322828,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_006036.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "NM_001171613.2",
"protein_id": "NP_001165084.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 638,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1819,
"cdna_end": null,
"cdna_length": 5829,
"mane_select": "ENST00000409411.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171613.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "ENST00000409411.6",
"protein_id": "ENSP00000387095.2",
"transcript_support_level": 1,
"aa_start": 552,
"aa_end": null,
"aa_length": 638,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1819,
"cdna_end": null,
"cdna_length": 5829,
"mane_select": "NM_001171613.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409411.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1923A>G",
"hgvs_p": "p.Ala641Ala",
"transcript": "ENST00000260648.10",
"protein_id": "ENSP00000260648.6",
"transcript_support_level": 1,
"aa_start": 641,
"aa_end": null,
"aa_length": 727,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2882,
"cdna_end": null,
"cdna_length": 3672,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260648.10"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1923A>G",
"hgvs_p": "p.Ala641Ala",
"transcript": "ENST00000409936.5",
"protein_id": "ENSP00000386543.1",
"transcript_support_level": 1,
"aa_start": 641,
"aa_end": null,
"aa_length": 727,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2361,
"cdna_end": null,
"cdna_length": 5212,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409936.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1737A>G",
"hgvs_p": "p.Ala579Ala",
"transcript": "ENST00000378511.7",
"protein_id": "ENSP00000367772.3",
"transcript_support_level": 1,
"aa_start": 579,
"aa_end": null,
"aa_length": 665,
"cds_start": 1737,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1771,
"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": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "n.1923A>G",
"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": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "n.1923A>G",
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1923A>G",
"hgvs_p": "p.Ala641Ala",
"transcript": "NM_001171603.1",
"protein_id": "NP_001165074.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 727,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2297,
"cdna_end": null,
"cdna_length": 6307,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171603.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1923A>G",
"hgvs_p": "p.Ala641Ala",
"transcript": "NM_001171606.2",
"protein_id": "NP_001165077.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 727,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2361,
"cdna_end": null,
"cdna_length": 6371,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171606.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1923A>G",
"hgvs_p": "p.Ala641Ala",
"transcript": "NM_001374275.1",
"protein_id": "NP_001361204.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 727,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2036,
"cdna_end": null,
"cdna_length": 6046,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374275.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1923A>G",
"hgvs_p": "p.Ala641Ala",
"transcript": "NM_001374276.1",
"protein_id": "NP_001361205.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 727,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2073,
"cdna_end": null,
"cdna_length": 6083,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374276.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1923A>G",
"hgvs_p": "p.Ala641Ala",
"transcript": "NM_006036.4",
"protein_id": "NP_006027.2",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 727,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2882,
"cdna_end": null,
"cdna_length": 6892,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006036.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1923A>G",
"hgvs_p": "p.Ala641Ala",
"transcript": "ENST00000409272.5",
"protein_id": "ENSP00000386909.1",
"transcript_support_level": 2,
"aa_start": 641,
"aa_end": null,
"aa_length": 727,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2240,
"cdna_end": null,
"cdna_length": 3030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409272.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1923A>G",
"hgvs_p": "p.Ala641Ala",
"transcript": "ENST00000410081.5",
"protein_id": "ENSP00000386509.1",
"transcript_support_level": 5,
"aa_start": 641,
"aa_end": null,
"aa_length": 727,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2385,
"cdna_end": null,
"cdna_length": 3080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410081.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1737A>G",
"hgvs_p": "p.Ala579Ala",
"transcript": "NM_001042385.2",
"protein_id": "NP_001035844.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 665,
"cds_start": 1737,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1771,
"cdna_end": null,
"cdna_length": 5781,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042385.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1725A>G",
"hgvs_p": "p.Ala575Ala",
"transcript": "NM_001042386.2",
"protein_id": "NP_001035845.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 661,
"cds_start": 1725,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1759,
"cdna_end": null,
"cdna_length": 5769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042386.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1725A>G",
"hgvs_p": "p.Ala575Ala",
"transcript": "ENST00000378520.7",
"protein_id": "ENSP00000367781.3",
"transcript_support_level": 5,
"aa_start": 575,
"aa_end": null,
"aa_length": 661,
"cds_start": 1725,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1759,
"cdna_end": null,
"cdna_length": 2308,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378520.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "NM_001171617.1",
"protein_id": "NP_001165088.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 638,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2043,
"cdna_end": null,
"cdna_length": 6053,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171617.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "NM_001374277.1",
"protein_id": "NP_001361206.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 638,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1782,
"cdna_end": null,
"cdna_length": 5792,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374277.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "ENST00000409957.5",
"protein_id": "ENSP00000387241.1",
"transcript_support_level": 5,
"aa_start": 552,
"aa_end": null,
"aa_length": 638,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1849,
"cdna_end": null,
"cdna_length": 4703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409957.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "ENST00000541738.5",
"protein_id": "ENSP00000439626.1",
"transcript_support_level": 2,
"aa_start": 552,
"aa_end": null,
"aa_length": 638,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2043,
"cdna_end": null,
"cdna_length": 6049,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541738.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "ENST00000906097.1",
"protein_id": "ENSP00000576156.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 638,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1977,
"cdna_end": null,
"cdna_length": 4829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906097.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "ENST00000906098.1",
"protein_id": "ENSP00000576157.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 638,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2308,
"cdna_end": null,
"cdna_length": 5156,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906098.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "ENST00000906100.1",
"protein_id": "ENSP00000576159.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 638,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2103,
"cdna_end": null,
"cdna_length": 4957,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906100.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "ENST00000906101.1",
"protein_id": "ENSP00000576160.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 638,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1942,
"cdna_end": null,
"cdna_length": 4796,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906101.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "ENST00000906102.1",
"protein_id": "ENSP00000576161.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 638,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1934,
"cdna_end": null,
"cdna_length": 4788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906102.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "ENST00000906104.1",
"protein_id": "ENSP00000576163.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 638,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2378,
"cdna_end": null,
"cdna_length": 5229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906104.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "ENST00000906106.1",
"protein_id": "ENSP00000576165.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 638,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1847,
"cdna_end": null,
"cdna_length": 4701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906106.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "ENST00000906108.1",
"protein_id": "ENSP00000576167.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 638,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1933,
"cdna_end": null,
"cdna_length": 4787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906108.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "ENST00000906110.1",
"protein_id": "ENSP00000576169.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 638,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1919,
"cdna_end": null,
"cdna_length": 4771,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906110.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "ENST00000906112.1",
"protein_id": "ENSP00000576171.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 638,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2069,
"cdna_end": null,
"cdna_length": 4134,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906112.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "ENST00000906114.1",
"protein_id": "ENSP00000576173.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 638,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1880,
"cdna_end": null,
"cdna_length": 2669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906114.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "ENST00000906115.1",
"protein_id": "ENSP00000576174.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 638,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2421,
"cdna_end": null,
"cdna_length": 3210,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906115.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "ENST00000906117.1",
"protein_id": "ENSP00000576176.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 638,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1992,
"cdna_end": null,
"cdna_length": 2774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906117.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "ENST00000906118.1",
"protein_id": "ENSP00000576177.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 638,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2457,
"cdna_end": null,
"cdna_length": 5310,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906118.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "ENST00000939473.1",
"protein_id": "ENSP00000609532.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 638,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2071,
"cdna_end": null,
"cdna_length": 2863,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939473.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "ENST00000939474.1",
"protein_id": "ENSP00000609533.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 638,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1929,
"cdna_end": null,
"cdna_length": 2713,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939474.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "ENST00000939475.1",
"protein_id": "ENSP00000609534.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 638,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2137,
"cdna_end": null,
"cdna_length": 2920,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939475.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "ENST00000959349.1",
"protein_id": "ENSP00000629408.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 638,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1929,
"cdna_end": null,
"cdna_length": 3902,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959349.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "ENST00000959350.1",
"protein_id": "ENSP00000629409.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 638,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2057,
"cdna_end": null,
"cdna_length": 4020,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959350.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "ENST00000959352.1",
"protein_id": "ENSP00000629411.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 638,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1888,
"cdna_end": null,
"cdna_length": 2676,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959352.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1653A>G",
"hgvs_p": "p.Ala551Ala",
"transcript": "ENST00000906096.1",
"protein_id": "ENSP00000576155.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 637,
"cds_start": 1653,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 1956,
"cdna_end": null,
"cdna_length": 5966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906096.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1653A>G",
"hgvs_p": "p.Ala551Ala",
"transcript": "ENST00000906103.1",
"protein_id": "ENSP00000576162.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 637,
"cds_start": 1653,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 2122,
"cdna_end": null,
"cdna_length": 4976,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906103.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1653A>G",
"hgvs_p": "p.Ala551Ala",
"transcript": "ENST00000906105.1",
"protein_id": "ENSP00000576164.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 637,
"cds_start": 1653,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 1856,
"cdna_end": null,
"cdna_length": 4710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906105.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1653A>G",
"hgvs_p": "p.Ala551Ala",
"transcript": "ENST00000906107.1",
"protein_id": "ENSP00000576166.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 637,
"cds_start": 1653,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 1801,
"cdna_end": null,
"cdna_length": 4652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906107.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1653A>G",
"hgvs_p": "p.Ala551Ala",
"transcript": "ENST00000939468.1",
"protein_id": "ENSP00000609527.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 637,
"cds_start": 1653,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 2283,
"cdna_end": null,
"cdna_length": 5137,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939468.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1653A>G",
"hgvs_p": "p.Ala551Ala",
"transcript": "ENST00000939470.1",
"protein_id": "ENSP00000609529.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 637,
"cds_start": 1653,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 2028,
"cdna_end": null,
"cdna_length": 4879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939470.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1653A>G",
"hgvs_p": "p.Ala551Ala",
"transcript": "ENST00000939472.1",
"protein_id": "ENSP00000609531.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 637,
"cds_start": 1653,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 2427,
"cdna_end": null,
"cdna_length": 4398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939472.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1653A>G",
"hgvs_p": "p.Ala551Ala",
"transcript": "ENST00000939476.1",
"protein_id": "ENSP00000609535.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 637,
"cds_start": 1653,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 1914,
"cdna_end": null,
"cdna_length": 2706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939476.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1653A>G",
"hgvs_p": "p.Ala551Ala",
"transcript": "ENST00000959348.1",
"protein_id": "ENSP00000629407.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 637,
"cds_start": 1653,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 4660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959348.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "ENST00000906099.1",
"protein_id": "ENSP00000576158.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 636,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 2011,
"cdna_end": null,
"cdna_length": 4858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906099.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "ENST00000906111.1",
"protein_id": "ENSP00000576170.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 636,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 4403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906111.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "ENST00000906116.1",
"protein_id": "ENSP00000576175.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 636,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 2071,
"cdna_end": null,
"cdna_length": 2855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906116.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "ENST00000939467.1",
"protein_id": "ENSP00000609526.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 636,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1977,
"cdna_end": null,
"cdna_length": 4825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939467.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1653A>G",
"hgvs_p": "p.Ala551Ala",
"transcript": "ENST00000906113.1",
"protein_id": "ENSP00000576172.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 635,
"cds_start": 1653,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1838,
"cdna_end": null,
"cdna_length": 3795,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906113.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1509A>G",
"hgvs_p": "p.Ala503Ala",
"transcript": "ENST00000959346.1",
"protein_id": "ENSP00000629405.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 589,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1701,
"cdna_end": null,
"cdna_length": 4554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959346.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1470A>G",
"hgvs_p": "p.Ala490Ala",
"transcript": "ENST00000959347.1",
"protein_id": "ENSP00000629406.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 576,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959347.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1470A>G",
"hgvs_p": "p.Ala490Ala",
"transcript": "ENST00000959351.1",
"protein_id": "ENSP00000629410.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 576,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1596,
"cdna_end": null,
"cdna_length": 2377,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959351.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1458A>G",
"hgvs_p": "p.Ala486Ala",
"transcript": "ENST00000906109.1",
"protein_id": "ENSP00000576168.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 572,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1621,
"cdna_end": null,
"cdna_length": 4475,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906109.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1458A>G",
"hgvs_p": "p.Ala486Ala",
"transcript": "ENST00000939469.1",
"protein_id": "ENSP00000609528.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 572,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1544,
"cdna_end": null,
"cdna_length": 4398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939469.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.1272A>G",
"hgvs_p": "p.Ala424Ala",
"transcript": "ENST00000939471.1",
"protein_id": "ENSP00000609530.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 510,
"cds_start": 1272,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 1431,
"cdna_end": null,
"cdna_length": 4283,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939471.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.66A>G",
"hgvs_p": "p.Ala22Ala",
"transcript": "ENST00000420756.1",
"protein_id": "ENSP00000395692.1",
"transcript_support_level": 4,
"aa_start": 22,
"aa_end": null,
"aa_length": 119,
"cds_start": 66,
"cds_end": null,
"cds_length": 360,
"cdna_start": 68,
"cdna_end": null,
"cdna_length": 602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420756.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREPL",
"gene_hgnc_id": 30228,
"hgvs_c": "c.108A>G",
"hgvs_p": "p.Ala36Ala",
"transcript": "ENST00000444696.5",
"protein_id": "ENSP00000390618.1",
"transcript_support_level": 4,
"aa_start": 36,
"aa_end": null,
"aa_length": 70,
"cds_start": 108,
"cds_end": null,
"cds_length": 213,
"cdna_start": 108,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444696.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1923A>G",
"hgvs_p": "p.Ala641Ala",
"transcript": "XM_017005385.2",
"protein_id": "XP_016860874.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 727,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2324,
"cdna_end": null,
"cdna_length": 6334,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005385.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1923A>G",
"hgvs_p": "p.Ala641Ala",
"transcript": "XM_047446441.1",
"protein_id": "XP_047302397.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 678,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 2361,
"cdna_end": null,
"cdna_length": 6297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446441.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1923A>G",
"hgvs_p": "p.Ala641Ala",
"transcript": "XM_047446442.1",
"protein_id": "XP_047302398.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 678,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 2073,
"cdna_end": null,
"cdna_length": 6009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446442.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1923A>G",
"hgvs_p": "p.Ala641Ala",
"transcript": "XM_047446443.1",
"protein_id": "XP_047302399.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 678,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 2036,
"cdna_end": null,
"cdna_length": 5972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446443.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1923A>G",
"hgvs_p": "p.Ala641Ala",
"transcript": "XM_047446444.1",
"protein_id": "XP_047302400.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 678,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 2297,
"cdna_end": null,
"cdna_length": 6233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446444.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "XM_047446445.1",
"protein_id": "XP_047302401.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 638,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1919,
"cdna_end": null,
"cdna_length": 5929,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446445.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1656A>G",
"hgvs_p": "p.Ala552Ala",
"transcript": "XM_047446446.1",
"protein_id": "XP_047302402.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 589,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1819,
"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": "rs74395208",
"frequency_reference_population": 0.0017320551,
"hom_count_reference_population": 14,
"allele_count_reference_population": 2795,
"gnomad_exomes_af": 0.00130563,
"gnomad_genomes_af": 0.00582311,
"gnomad_exomes_ac": 1908,
"gnomad_genomes_ac": 887,
"gnomad_exomes_homalt": 8,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3919999897480011,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.392,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.664,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_006036.4",
"gene_symbol": "PREPL",
"hgnc_id": 30228,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1923A>G",
"hgvs_p": "p.Ala641Ala"
}
],
"clinvar_disease": " 22, congenital,Myasthenic syndrome,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "Myasthenic syndrome, congenital, 22|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}