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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: 1-20086090-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=20086090&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 20086090,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_000929.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.48T>C",
"hgvs_p": "p.Pro16Pro",
"transcript": "NM_000929.3",
"protein_id": "NP_000920.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 138,
"cds_start": 48,
"cds_end": null,
"cds_length": 417,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 1918,
"mane_select": "ENST00000375108.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000929.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.48T>C",
"hgvs_p": "p.Pro16Pro",
"transcript": "ENST00000375108.4",
"protein_id": "ENSP00000364249.3",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 138,
"cds_start": 48,
"cds_end": null,
"cds_length": 417,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 1918,
"mane_select": "NM_000929.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375108.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.48T>C",
"hgvs_p": "p.Pro16Pro",
"transcript": "ENST00000894073.1",
"protein_id": "ENSP00000564132.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 138,
"cds_start": 48,
"cds_end": null,
"cds_length": 417,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894073.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.48T>C",
"hgvs_p": "p.Pro16Pro",
"transcript": "ENST00000894074.1",
"protein_id": "ENSP00000564133.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 138,
"cds_start": 48,
"cds_end": null,
"cds_length": 417,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894074.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.48T>C",
"hgvs_p": "p.Pro16Pro",
"transcript": "ENST00000894075.1",
"protein_id": "ENSP00000564134.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 138,
"cds_start": 48,
"cds_end": null,
"cds_length": 417,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 2513,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894075.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.48T>C",
"hgvs_p": "p.Pro16Pro",
"transcript": "ENST00000894076.1",
"protein_id": "ENSP00000564135.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 138,
"cds_start": 48,
"cds_end": null,
"cds_length": 417,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 2388,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894076.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.48T>C",
"hgvs_p": "p.Pro16Pro",
"transcript": "ENST00000894077.1",
"protein_id": "ENSP00000564136.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 138,
"cds_start": 48,
"cds_end": null,
"cds_length": 417,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 2586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894077.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.48T>C",
"hgvs_p": "p.Pro16Pro",
"transcript": "ENST00000894078.1",
"protein_id": "ENSP00000564137.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 138,
"cds_start": 48,
"cds_end": null,
"cds_length": 417,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 1353,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894078.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.48T>C",
"hgvs_p": "p.Pro16Pro",
"transcript": "ENST00000894079.1",
"protein_id": "ENSP00000564138.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 138,
"cds_start": 48,
"cds_end": null,
"cds_length": 417,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 1292,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894079.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.48T>C",
"hgvs_p": "p.Pro16Pro",
"transcript": "ENST00000894080.1",
"protein_id": "ENSP00000564139.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 138,
"cds_start": 48,
"cds_end": null,
"cds_length": 417,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 1519,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894080.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.48T>C",
"hgvs_p": "p.Pro16Pro",
"transcript": "ENST00000894081.1",
"protein_id": "ENSP00000564140.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 138,
"cds_start": 48,
"cds_end": null,
"cds_length": 417,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 1632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894081.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.48T>C",
"hgvs_p": "p.Pro16Pro",
"transcript": "ENST00000894082.1",
"protein_id": "ENSP00000564141.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 138,
"cds_start": 48,
"cds_end": null,
"cds_length": 417,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 1935,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894082.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.48T>C",
"hgvs_p": "p.Pro16Pro",
"transcript": "ENST00000894083.1",
"protein_id": "ENSP00000564142.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 138,
"cds_start": 48,
"cds_end": null,
"cds_length": 417,
"cdna_start": 457,
"cdna_end": null,
"cdna_length": 1321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894083.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.48T>C",
"hgvs_p": "p.Pro16Pro",
"transcript": "ENST00000894084.1",
"protein_id": "ENSP00000564143.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 138,
"cds_start": 48,
"cds_end": null,
"cds_length": 417,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894084.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.48T>C",
"hgvs_p": "p.Pro16Pro",
"transcript": "ENST00000894085.1",
"protein_id": "ENSP00000564144.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 138,
"cds_start": 48,
"cds_end": null,
"cds_length": 417,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 1883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894085.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.48T>C",
"hgvs_p": "p.Pro16Pro",
"transcript": "ENST00000894086.1",
"protein_id": "ENSP00000564145.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 138,
"cds_start": 48,
"cds_end": null,
"cds_length": 417,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 1480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894086.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.48T>C",
"hgvs_p": "p.Pro16Pro",
"transcript": "ENST00000894087.1",
"protein_id": "ENSP00000564146.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 138,
"cds_start": 48,
"cds_end": null,
"cds_length": 417,
"cdna_start": 897,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894087.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.48T>C",
"hgvs_p": "p.Pro16Pro",
"transcript": "ENST00000894088.1",
"protein_id": "ENSP00000564147.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 138,
"cds_start": 48,
"cds_end": null,
"cds_length": 417,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 1843,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894088.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.48T>C",
"hgvs_p": "p.Pro16Pro",
"transcript": "ENST00000894089.1",
"protein_id": "ENSP00000564148.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 138,
"cds_start": 48,
"cds_end": null,
"cds_length": 417,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 1796,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894089.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.48T>C",
"hgvs_p": "p.Pro16Pro",
"transcript": "ENST00000894090.1",
"protein_id": "ENSP00000564149.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 138,
"cds_start": 48,
"cds_end": null,
"cds_length": 417,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 1453,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894090.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.48T>C",
"hgvs_p": "p.Pro16Pro",
"transcript": "ENST00000894091.1",
"protein_id": "ENSP00000564150.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 138,
"cds_start": 48,
"cds_end": null,
"cds_length": 417,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 2056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894091.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.48T>C",
"hgvs_p": "p.Pro16Pro",
"transcript": "ENST00000894092.1",
"protein_id": "ENSP00000564151.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 138,
"cds_start": 48,
"cds_end": null,
"cds_length": 417,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 1279,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894092.1"
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "n.582T>C",
"hgvs_p": null,
"transcript": "ENST00000469069.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 826,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000469069.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "n.367T>C",
"hgvs_p": null,
"transcript": "ENST00000478803.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 949,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000478803.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "n.1004T>C",
"hgvs_p": null,
"transcript": "ENST00000486277.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1871,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000486277.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "n.635T>C",
"hgvs_p": null,
"transcript": "ENST00000489871.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1092,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000489871.5"
}
],
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"dbsnp": "rs148786946",
"frequency_reference_population": 0.0000013681519,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136815,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.375,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_000929.3",
"gene_symbol": "PLA2G5",
"hgnc_id": 9038,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.48T>C",
"hgvs_p": "p.Pro16Pro"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}