← 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: 19-4839293-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4839293&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 4839293,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005817.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"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.1204G>A",
"hgvs_p": "p.Asp402Asn",
"transcript": "NM_005817.5",
"protein_id": "NP_005808.3",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 434,
"cds_start": 1204,
"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": "D",
"aa_alt": "N",
"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.1204G>A",
"hgvs_p": "p.Asp402Asn",
"transcript": "ENST00000221957.9",
"protein_id": "ENSP00000221957.3",
"transcript_support_level": 1,
"aa_start": 402,
"aa_end": null,
"aa_length": 434,
"cds_start": 1204,
"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": "D",
"aa_alt": "N",
"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.1201G>A",
"hgvs_p": "p.Asp401Asn",
"transcript": "ENST00000585479.5",
"protein_id": "ENSP00000465596.1",
"transcript_support_level": 1,
"aa_start": 401,
"aa_end": null,
"aa_length": 433,
"cds_start": 1201,
"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": "D",
"aa_alt": "N",
"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.1204G>A",
"hgvs_p": "p.Asp402Asn",
"transcript": "ENST00000884464.1",
"protein_id": "ENSP00000554523.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 434,
"cds_start": 1204,
"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": "D",
"aa_alt": "N",
"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.1204G>A",
"hgvs_p": "p.Asp402Asn",
"transcript": "ENST00000884466.1",
"protein_id": "ENSP00000554525.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 434,
"cds_start": 1204,
"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": "D",
"aa_alt": "N",
"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.1204G>A",
"hgvs_p": "p.Asp402Asn",
"transcript": "ENST00000884467.1",
"protein_id": "ENSP00000554526.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 434,
"cds_start": 1204,
"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": "D",
"aa_alt": "N",
"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.1204G>A",
"hgvs_p": "p.Asp402Asn",
"transcript": "ENST00000928988.1",
"protein_id": "ENSP00000599047.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 434,
"cds_start": 1204,
"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": "D",
"aa_alt": "N",
"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.1204G>A",
"hgvs_p": "p.Asp402Asn",
"transcript": "ENST00000928989.1",
"protein_id": "ENSP00000599048.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 434,
"cds_start": 1204,
"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": "D",
"aa_alt": "N",
"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.1204G>A",
"hgvs_p": "p.Asp402Asn",
"transcript": "ENST00000958157.1",
"protein_id": "ENSP00000628216.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 434,
"cds_start": 1204,
"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": "D",
"aa_alt": "N",
"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.1204G>A",
"hgvs_p": "p.Asp402Asn",
"transcript": "ENST00000958159.1",
"protein_id": "ENSP00000628218.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 434,
"cds_start": 1204,
"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": "D",
"aa_alt": "N",
"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.1204G>A",
"hgvs_p": "p.Asp402Asn",
"transcript": "ENST00000958160.1",
"protein_id": "ENSP00000628219.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 434,
"cds_start": 1204,
"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": "D",
"aa_alt": "N",
"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.1204G>A",
"hgvs_p": "p.Asp402Asn",
"transcript": "ENST00000958162.1",
"protein_id": "ENSP00000628221.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 434,
"cds_start": 1204,
"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": "D",
"aa_alt": "N",
"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.1201G>A",
"hgvs_p": "p.Asp401Asn",
"transcript": "NM_001164189.2",
"protein_id": "NP_001157661.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 433,
"cds_start": 1201,
"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": "D",
"aa_alt": "N",
"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.1195G>A",
"hgvs_p": "p.Asp399Asn",
"transcript": "ENST00000884463.1",
"protein_id": "ENSP00000554522.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 431,
"cds_start": 1195,
"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": "D",
"aa_alt": "N",
"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.1192G>A",
"hgvs_p": "p.Asp398Asn",
"transcript": "ENST00000884460.1",
"protein_id": "ENSP00000554519.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 430,
"cds_start": 1192,
"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": "D",
"aa_alt": "N",
"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.1168G>A",
"hgvs_p": "p.Asp390Asn",
"transcript": "NM_001164194.2",
"protein_id": "NP_001157666.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 422,
"cds_start": 1168,
"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": "D",
"aa_alt": "N",
"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.1168G>A",
"hgvs_p": "p.Asp390Asn",
"transcript": "ENST00000592528.5",
"protein_id": "ENSP00000467803.1",
"transcript_support_level": 2,
"aa_start": 390,
"aa_end": null,
"aa_length": 422,
"cds_start": 1168,
"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": "D",
"aa_alt": "N",
"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.1168G>A",
"hgvs_p": "p.Asp390Asn",
"transcript": "ENST00000958163.1",
"protein_id": "ENSP00000628222.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 422,
"cds_start": 1168,
"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": "D",
"aa_alt": "N",
"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.1078G>A",
"hgvs_p": "p.Asp360Asn",
"transcript": "ENST00000884461.1",
"protein_id": "ENSP00000554520.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 392,
"cds_start": 1078,
"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": "D",
"aa_alt": "N",
"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.1075G>A",
"hgvs_p": "p.Asp359Asn",
"transcript": "ENST00000884465.1",
"protein_id": "ENSP00000554524.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 391,
"cds_start": 1075,
"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": "D",
"aa_alt": "N",
"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.1075G>A",
"hgvs_p": "p.Asp359Asn",
"transcript": "ENST00000958161.1",
"protein_id": "ENSP00000628220.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 391,
"cds_start": 1075,
"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": "D",
"aa_alt": "N",
"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.952G>A",
"hgvs_p": "p.Asp318Asn",
"transcript": "ENST00000958158.1",
"protein_id": "ENSP00000628217.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 350,
"cds_start": 952,
"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": "D",
"aa_alt": "N",
"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.922G>A",
"hgvs_p": "p.Asp308Asn",
"transcript": "ENST00000884462.1",
"protein_id": "ENSP00000554521.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 340,
"cds_start": 922,
"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": "D",
"aa_alt": "N",
"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.919G>A",
"hgvs_p": "p.Asp307Asn",
"transcript": "ENST00000958156.1",
"protein_id": "ENSP00000628215.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 339,
"cds_start": 919,
"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": "D",
"aa_alt": "N",
"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.775G>A",
"hgvs_p": "p.Asp259Asn",
"transcript": "ENST00000589163.5",
"protein_id": "ENSP00000468476.1",
"transcript_support_level": 3,
"aa_start": 259,
"aa_end": null,
"aa_length": 291,
"cds_start": 775,
"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": "rs2093625235",
"frequency_reference_population": 0.0000047885515,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000478855,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.40546563267707825,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.279,
"revel_prediction": "Benign",
"alphamissense_score": 0.1199,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.765,
"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.1204G>A",
"hgvs_p": "p.Asp402Asn"
}
],
"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
}