← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-20086187-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=20086187&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PLA2G5",
"hgnc_id": 9038,
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"inheritance_mode": "AR",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_000929.3",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong",
"acmg_score": 8,
"allele_count_reference_population": 19,
"alphamissense_prediction": "Uncertain_significance",
"alphamissense_score": 0.4884,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.49,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Familial benign flecked retina,not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9928250312805176,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1918,
"cdna_start": 427,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_000929.3",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375108.4",
"protein_coding": true,
"protein_id": "NP_000920.1",
"strand": true,
"transcript": "NM_000929.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1918,
"cdna_start": 427,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000375108.4",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000929.3",
"protein_coding": true,
"protein_id": "ENSP00000364249.3",
"strand": true,
"transcript": "ENST00000375108.4",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2367,
"cdna_start": 876,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000894073.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564132.1",
"strand": true,
"transcript": "ENST00000894073.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2487,
"cdna_start": 1003,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000894074.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564133.1",
"strand": true,
"transcript": "ENST00000894074.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2513,
"cdna_start": 1022,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000894075.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564134.1",
"strand": true,
"transcript": "ENST00000894075.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2388,
"cdna_start": 904,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000894076.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564135.1",
"strand": true,
"transcript": "ENST00000894076.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2586,
"cdna_start": 1104,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000894077.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564136.1",
"strand": true,
"transcript": "ENST00000894077.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1353,
"cdna_start": 589,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000894078.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564137.1",
"strand": true,
"transcript": "ENST00000894078.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1292,
"cdna_start": 526,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000894079.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564138.1",
"strand": true,
"transcript": "ENST00000894079.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1519,
"cdna_start": 750,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000894080.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564139.1",
"strand": true,
"transcript": "ENST00000894080.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1632,
"cdna_start": 869,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000894081.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564140.1",
"strand": true,
"transcript": "ENST00000894081.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1935,
"cdna_start": 1165,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000894082.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564141.1",
"strand": true,
"transcript": "ENST00000894082.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1321,
"cdna_start": 554,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000894083.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564142.1",
"strand": true,
"transcript": "ENST00000894083.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1865,
"cdna_start": 1117,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000894084.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564143.1",
"strand": true,
"transcript": "ENST00000894084.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1883,
"cdna_start": 1135,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000894085.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564144.1",
"strand": true,
"transcript": "ENST00000894085.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1480,
"cdna_start": 740,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000894086.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564145.1",
"strand": true,
"transcript": "ENST00000894086.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1733,
"cdna_start": 994,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000894087.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564146.1",
"strand": true,
"transcript": "ENST00000894087.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1843,
"cdna_start": 1095,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000894088.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564147.1",
"strand": true,
"transcript": "ENST00000894088.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1796,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000894089.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564148.1",
"strand": true,
"transcript": "ENST00000894089.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1453,
"cdna_start": 691,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000894090.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564149.1",
"strand": true,
"transcript": "ENST00000894090.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2056,
"cdna_start": 574,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000894091.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564150.1",
"strand": true,
"transcript": "ENST00000894091.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1279,
"cdna_start": 517,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000894092.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564151.1",
"strand": true,
"transcript": "ENST00000894092.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1361,
"cdna_start": 621,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000894093.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564152.1",
"strand": true,
"transcript": "ENST00000894093.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1229,
"cdna_start": 481,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000894094.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564153.1",
"strand": true,
"transcript": "ENST00000894094.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4964,
"cdna_start": 4203,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000894095.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564154.1",
"strand": true,
"transcript": "ENST00000894095.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 942,
"cdna_start": 194,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000894096.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564155.1",
"strand": true,
"transcript": "ENST00000894096.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1571,
"cdna_start": 810,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000962155.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632214.1",
"strand": true,
"transcript": "ENST00000962155.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1681,
"cdna_start": 941,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000962156.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632215.1",
"strand": true,
"transcript": "ENST00000962156.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1720,
"cdna_start": 950,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000962157.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632216.1",
"strand": true,
"transcript": "ENST00000962157.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1644,
"cdna_start": 904,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000962158.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632217.1",
"strand": true,
"transcript": "ENST00000962158.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1483,
"cdna_start": 740,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000962159.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632218.1",
"strand": true,
"transcript": "ENST00000962159.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1396,
"cdna_start": 626,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000962160.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632219.1",
"strand": true,
"transcript": "ENST00000962160.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1724,
"cdna_start": 961,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000962162.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632221.1",
"strand": true,
"transcript": "ENST00000962162.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1432,
"cdna_start": 670,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000962163.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632222.1",
"strand": true,
"transcript": "ENST00000962163.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1438,
"cdna_start": 676,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000962164.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632223.1",
"strand": true,
"transcript": "ENST00000962164.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1595,
"cdna_start": 834,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000962165.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632224.1",
"strand": true,
"transcript": "ENST00000962165.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1662,
"cdna_start": 914,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000962166.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632225.1",
"strand": true,
"transcript": "ENST00000962166.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1397,
"cdna_start": 658,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000962167.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632226.1",
"strand": true,
"transcript": "ENST00000962167.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1919,
"cdna_start": 1179,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000962168.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632227.1",
"strand": true,
"transcript": "ENST00000962168.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1446,
"cdna_start": 708,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000962169.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632228.1",
"strand": true,
"transcript": "ENST00000962169.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1309,
"cdna_start": 570,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000962170.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632229.1",
"strand": true,
"transcript": "ENST00000962170.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1593,
"cdna_start": 854,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000962171.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632230.1",
"strand": true,
"transcript": "ENST00000962171.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3133,
"cdna_start": 2370,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000962172.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632231.1",
"strand": true,
"transcript": "ENST00000962172.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2190,
"cdna_start": 702,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000962173.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632232.1",
"strand": true,
"transcript": "ENST00000962173.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1349,
"cdna_start": 585,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000962174.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632233.1",
"strand": true,
"transcript": "ENST00000962174.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1419,
"cdna_start": 680,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000962175.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632234.1",
"strand": true,
"transcript": "ENST00000962175.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1389,
"cdna_start": 650,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000962176.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632235.1",
"strand": true,
"transcript": "ENST00000962176.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1281,
"cdna_start": 541,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000962177.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632236.1",
"strand": true,
"transcript": "ENST00000962177.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1229,
"cdna_start": 491,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000962178.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632237.1",
"strand": true,
"transcript": "ENST00000962178.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 137,
"aa_ref": "G",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1337,
"cdna_start": 568,
"cds_end": null,
"cds_length": 414,
"cds_start": 142,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000962161.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Gly48Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632220.1",
"strand": true,
"transcript": "ENST00000962161.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 169,
"aa_ref": "G",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2288,
"cdna_start": 797,
"cds_end": null,
"cds_length": 510,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005245891.6",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Gly80Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245948.1",
"strand": true,
"transcript": "XM_005245891.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 169,
"aa_ref": "G",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2169,
"cdna_start": 678,
"cds_end": null,
"cds_length": 510,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_005245892.6",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Gly80Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245949.1",
"strand": true,
"transcript": "XM_005245892.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 169,
"aa_ref": "G",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2108,
"cdna_start": 617,
"cds_end": null,
"cds_length": 510,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011541586.4",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Gly80Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011539888.1",
"strand": true,
"transcript": "XM_011541586.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 169,
"aa_ref": "G",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2336,
"cdna_start": 845,
"cds_end": null,
"cds_length": 510,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047422608.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Gly80Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278564.1",
"strand": true,
"transcript": "XM_047422608.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 169,
"aa_ref": "G",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2217,
"cdna_start": 726,
"cds_end": null,
"cds_length": 510,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047422616.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Gly80Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278572.1",
"strand": true,
"transcript": "XM_047422616.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2341,
"cdna_start": 850,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005245893.6",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245950.1",
"strand": true,
"transcript": "XM_005245893.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2488,
"cdna_start": 997,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011541587.4",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011539889.1",
"strand": true,
"transcript": "XM_011541587.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2395,
"cdna_start": 904,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011541588.4",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011539890.1",
"strand": true,
"transcript": "XM_011541588.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2441,
"cdna_start": 950,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011541589.4",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011539891.1",
"strand": true,
"transcript": "XM_011541589.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2223,
"cdna_start": 732,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011541590.4",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011539892.1",
"strand": true,
"transcript": "XM_011541590.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2009,
"cdna_start": 518,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011541591.4",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011539893.1",
"strand": true,
"transcript": "XM_011541591.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1948,
"cdna_start": 457,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011541592.4",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011539894.1",
"strand": true,
"transcript": "XM_011541592.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2588,
"cdna_start": 1097,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047422635.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278591.1",
"strand": true,
"transcript": "XM_047422635.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2542,
"cdna_start": 1051,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047422637.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278593.1",
"strand": true,
"transcript": "XM_047422637.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2063,
"cdna_start": 572,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047422643.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278599.1",
"strand": true,
"transcript": "XM_047422643.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 138,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2111,
"cdna_start": 620,
"cds_end": null,
"cds_length": 417,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047422645.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Gly49Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278601.1",
"strand": true,
"transcript": "XM_047422645.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 964,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000460175.5",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "n.924G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000460175.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1513,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000465698.5",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "n.656G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000465698.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 826,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000469069.5",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "n.679G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000469069.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 949,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000478803.1",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "n.464G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000478803.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1871,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000486277.5",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "n.1101G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000486277.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1092,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000489871.5",
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"hgvs_c": "n.732G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000489871.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs387906796",
"effect": "missense_variant",
"frequency_reference_population": 0.000011771397,
"gene_hgnc_id": 9038,
"gene_symbol": "PLA2G5",
"gnomad_exomes_ac": 16,
"gnomad_exomes_af": 0.0000109449,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000197094,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Familial benign flecked retina|not provided",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.787,
"pos": 20086187,
"ref": "G",
"revel_prediction": "Pathogenic",
"revel_score": 0.902,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000929.3"
}
]
}