← 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: 9-136980227-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=136980227&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 136980227,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000954.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGDS",
"gene_hgnc_id": 9592,
"hgvs_c": "c.493G>A",
"hgvs_p": "p.Ala165Thr",
"transcript": "NM_000954.6",
"protein_id": "NP_000945.3",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 190,
"cds_start": 493,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371625.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000954.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGDS",
"gene_hgnc_id": 9592,
"hgvs_c": "c.493G>A",
"hgvs_p": "p.Ala165Thr",
"transcript": "ENST00000371625.8",
"protein_id": "ENSP00000360687.3",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 190,
"cds_start": 493,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000954.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371625.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284341",
"gene_hgnc_id": null,
"hgvs_c": "n.493G>A",
"hgvs_p": null,
"transcript": "ENST00000471521.5",
"protein_id": "ENSP00000435033.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000471521.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGDS",
"gene_hgnc_id": 9592,
"hgvs_c": "c.1222G>A",
"hgvs_p": "p.Ala408Thr",
"transcript": "ENST00000851752.1",
"protein_id": "ENSP00000521811.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 433,
"cds_start": 1222,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851752.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGDS",
"gene_hgnc_id": 9592,
"hgvs_c": "c.748G>A",
"hgvs_p": "p.Ala250Thr",
"transcript": "ENST00000851753.1",
"protein_id": "ENSP00000521812.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 275,
"cds_start": 748,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851753.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGDS",
"gene_hgnc_id": 9592,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Ala221Thr",
"transcript": "ENST00000851760.1",
"protein_id": "ENSP00000521819.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 246,
"cds_start": 661,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851760.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGDS",
"gene_hgnc_id": 9592,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Ala206Thr",
"transcript": "ENST00000954962.1",
"protein_id": "ENSP00000625021.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 231,
"cds_start": 616,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954962.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGDS",
"gene_hgnc_id": 9592,
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Ala172Thr",
"transcript": "ENST00000851755.1",
"protein_id": "ENSP00000521814.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 197,
"cds_start": 514,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851755.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGDS",
"gene_hgnc_id": 9592,
"hgvs_c": "c.508G>A",
"hgvs_p": "p.Ala170Thr",
"transcript": "ENST00000954964.1",
"protein_id": "ENSP00000625023.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 195,
"cds_start": 508,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954964.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGDS",
"gene_hgnc_id": 9592,
"hgvs_c": "c.493G>A",
"hgvs_p": "p.Ala165Thr",
"transcript": "ENST00000851751.1",
"protein_id": "ENSP00000521810.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 190,
"cds_start": 493,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851751.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGDS",
"gene_hgnc_id": 9592,
"hgvs_c": "c.493G>A",
"hgvs_p": "p.Ala165Thr",
"transcript": "ENST00000851756.1",
"protein_id": "ENSP00000521815.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 190,
"cds_start": 493,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851756.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGDS",
"gene_hgnc_id": 9592,
"hgvs_c": "c.493G>A",
"hgvs_p": "p.Ala165Thr",
"transcript": "ENST00000851758.1",
"protein_id": "ENSP00000521817.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 190,
"cds_start": 493,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851758.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGDS",
"gene_hgnc_id": 9592,
"hgvs_c": "c.493G>A",
"hgvs_p": "p.Ala165Thr",
"transcript": "ENST00000851761.1",
"protein_id": "ENSP00000521820.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 190,
"cds_start": 493,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851761.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGDS",
"gene_hgnc_id": 9592,
"hgvs_c": "c.493G>A",
"hgvs_p": "p.Ala165Thr",
"transcript": "ENST00000851762.1",
"protein_id": "ENSP00000521821.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 190,
"cds_start": 493,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851762.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGDS",
"gene_hgnc_id": 9592,
"hgvs_c": "c.493G>A",
"hgvs_p": "p.Ala165Thr",
"transcript": "ENST00000954960.1",
"protein_id": "ENSP00000625019.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 190,
"cds_start": 493,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954960.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGDS",
"gene_hgnc_id": 9592,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Ala143Thr",
"transcript": "ENST00000954963.1",
"protein_id": "ENSP00000625022.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 168,
"cds_start": 427,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954963.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGDS",
"gene_hgnc_id": 9592,
"hgvs_c": "c.292G>A",
"hgvs_p": "p.Ala98Thr",
"transcript": "ENST00000446677.2",
"protein_id": "ENSP00000397468.2",
"transcript_support_level": 3,
"aa_start": 98,
"aa_end": null,
"aa_length": 124,
"cds_start": 292,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446677.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGDS",
"gene_hgnc_id": 9592,
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Ala96Thr",
"transcript": "ENST00000954961.1",
"protein_id": "ENSP00000625020.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 121,
"cds_start": 286,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954961.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PTGDS",
"gene_hgnc_id": 9592,
"hgvs_c": "c.550+165G>A",
"hgvs_p": null,
"transcript": "ENST00000851759.1",
"protein_id": "ENSP00000521818.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 190,
"cds_start": null,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851759.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PTGDS",
"gene_hgnc_id": 9592,
"hgvs_c": "c.448+165G>A",
"hgvs_p": null,
"transcript": "ENST00000851754.1",
"protein_id": "ENSP00000521813.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": null,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851754.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PTGDS",
"gene_hgnc_id": 9592,
"hgvs_c": "c.448+165G>A",
"hgvs_p": null,
"transcript": "ENST00000851757.1",
"protein_id": "ENSP00000521816.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": null,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851757.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGDS",
"gene_hgnc_id": 9592,
"hgvs_c": "n.312G>A",
"hgvs_p": null,
"transcript": "ENST00000462514.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000462514.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGDS",
"gene_hgnc_id": 9592,
"hgvs_c": "n.560G>A",
"hgvs_p": null,
"transcript": "ENST00000492068.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000492068.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGDS",
"gene_hgnc_id": 9592,
"hgvs_c": "c.-29G>A",
"hgvs_p": null,
"transcript": "ENST00000444903.2",
"protein_id": "ENSP00000392692.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 61,
"cds_start": null,
"cds_end": null,
"cds_length": 186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444903.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGDS",
"gene_hgnc_id": 9592,
"hgvs_c": "c.*8G>A",
"hgvs_p": null,
"transcript": "ENST00000457950.5",
"protein_id": "ENSP00000392633.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457950.5"
}
],
"gene_symbol": "PTGDS",
"gene_hgnc_id": 9592,
"dbsnp": "rs375649462",
"frequency_reference_population": 0.00008798388,
"hom_count_reference_population": 0,
"allele_count_reference_population": 142,
"gnomad_exomes_af": 0.0000930394,
"gnomad_genomes_af": 0.0000394254,
"gnomad_exomes_ac": 136,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.032124072313308716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.036,
"revel_prediction": "Benign",
"alphamissense_score": 0.0662,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.367,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.09,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_000954.6",
"gene_symbol": "PTGDS",
"hgnc_id": 9592,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.493G>A",
"hgvs_p": "p.Ala165Thr"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000471521.5",
"gene_symbol": "ENSG00000284341",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.493G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}