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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: 19-4839307-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4839307&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 4839307,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005817.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN3",
"gene_hgnc_id": 16893,
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"transcript": "NM_005817.5",
"protein_id": "NP_005808.3",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 434,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000221957.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005817.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN3",
"gene_hgnc_id": 16893,
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"transcript": "ENST00000221957.9",
"protein_id": "ENSP00000221957.3",
"transcript_support_level": 1,
"aa_start": 397,
"aa_end": null,
"aa_length": 434,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005817.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000221957.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN3",
"gene_hgnc_id": 16893,
"hgvs_c": "c.1187C>T",
"hgvs_p": "p.Ala396Val",
"transcript": "ENST00000585479.5",
"protein_id": "ENSP00000465596.1",
"transcript_support_level": 1,
"aa_start": 396,
"aa_end": null,
"aa_length": 433,
"cds_start": 1187,
"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": "ENST00000585479.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN3",
"gene_hgnc_id": 16893,
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"transcript": "ENST00000884464.1",
"protein_id": "ENSP00000554523.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 434,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884464.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN3",
"gene_hgnc_id": 16893,
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"transcript": "ENST00000884466.1",
"protein_id": "ENSP00000554525.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 434,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884466.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN3",
"gene_hgnc_id": 16893,
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"transcript": "ENST00000884467.1",
"protein_id": "ENSP00000554526.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 434,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884467.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN3",
"gene_hgnc_id": 16893,
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"transcript": "ENST00000928988.1",
"protein_id": "ENSP00000599047.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 434,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928988.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN3",
"gene_hgnc_id": 16893,
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"transcript": "ENST00000928989.1",
"protein_id": "ENSP00000599048.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 434,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928989.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN3",
"gene_hgnc_id": 16893,
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"transcript": "ENST00000958157.1",
"protein_id": "ENSP00000628216.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 434,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958157.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN3",
"gene_hgnc_id": 16893,
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"transcript": "ENST00000958159.1",
"protein_id": "ENSP00000628218.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 434,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958159.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN3",
"gene_hgnc_id": 16893,
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"transcript": "ENST00000958160.1",
"protein_id": "ENSP00000628219.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 434,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958160.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN3",
"gene_hgnc_id": 16893,
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"transcript": "ENST00000958162.1",
"protein_id": "ENSP00000628221.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 434,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958162.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN3",
"gene_hgnc_id": 16893,
"hgvs_c": "c.1187C>T",
"hgvs_p": "p.Ala396Val",
"transcript": "NM_001164189.2",
"protein_id": "NP_001157661.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 433,
"cds_start": 1187,
"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": "NM_001164189.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN3",
"gene_hgnc_id": 16893,
"hgvs_c": "c.1181C>T",
"hgvs_p": "p.Ala394Val",
"transcript": "ENST00000884463.1",
"protein_id": "ENSP00000554522.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 431,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884463.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN3",
"gene_hgnc_id": 16893,
"hgvs_c": "c.1178C>T",
"hgvs_p": "p.Ala393Val",
"transcript": "ENST00000884460.1",
"protein_id": "ENSP00000554519.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 430,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884460.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN3",
"gene_hgnc_id": 16893,
"hgvs_c": "c.1154C>T",
"hgvs_p": "p.Ala385Val",
"transcript": "NM_001164194.2",
"protein_id": "NP_001157666.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 422,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164194.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN3",
"gene_hgnc_id": 16893,
"hgvs_c": "c.1154C>T",
"hgvs_p": "p.Ala385Val",
"transcript": "ENST00000592528.5",
"protein_id": "ENSP00000467803.1",
"transcript_support_level": 2,
"aa_start": 385,
"aa_end": null,
"aa_length": 422,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592528.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN3",
"gene_hgnc_id": 16893,
"hgvs_c": "c.1154C>T",
"hgvs_p": "p.Ala385Val",
"transcript": "ENST00000958163.1",
"protein_id": "ENSP00000628222.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 422,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958163.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN3",
"gene_hgnc_id": 16893,
"hgvs_c": "c.1064C>T",
"hgvs_p": "p.Ala355Val",
"transcript": "ENST00000884461.1",
"protein_id": "ENSP00000554520.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 392,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884461.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN3",
"gene_hgnc_id": 16893,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Ala354Val",
"transcript": "ENST00000884465.1",
"protein_id": "ENSP00000554524.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 391,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884465.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN3",
"gene_hgnc_id": 16893,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Ala354Val",
"transcript": "ENST00000958161.1",
"protein_id": "ENSP00000628220.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 391,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958161.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN3",
"gene_hgnc_id": 16893,
"hgvs_c": "c.938C>T",
"hgvs_p": "p.Ala313Val",
"transcript": "ENST00000958158.1",
"protein_id": "ENSP00000628217.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 350,
"cds_start": 938,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958158.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN3",
"gene_hgnc_id": 16893,
"hgvs_c": "c.908C>T",
"hgvs_p": "p.Ala303Val",
"transcript": "ENST00000884462.1",
"protein_id": "ENSP00000554521.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 340,
"cds_start": 908,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884462.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN3",
"gene_hgnc_id": 16893,
"hgvs_c": "c.905C>T",
"hgvs_p": "p.Ala302Val",
"transcript": "ENST00000958156.1",
"protein_id": "ENSP00000628215.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 339,
"cds_start": 905,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958156.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN3",
"gene_hgnc_id": 16893,
"hgvs_c": "c.761C>T",
"hgvs_p": "p.Ala254Val",
"transcript": "ENST00000589163.5",
"protein_id": "ENSP00000468476.1",
"transcript_support_level": 3,
"aa_start": 254,
"aa_end": null,
"aa_length": 291,
"cds_start": 761,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589163.5"
}
],
"gene_symbol": "PLIN3",
"gene_hgnc_id": 16893,
"dbsnp": "rs1427387183",
"frequency_reference_population": 0.000011153038,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000116296,
"gnomad_genomes_af": 0.00000657376,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2803753614425659,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.244,
"revel_prediction": "Benign",
"alphamissense_score": 0.1522,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.89,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005817.5",
"gene_symbol": "PLIN3",
"hgnc_id": 16893,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}