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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: 19-4839410-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4839410&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PLIN3",
"hgnc_id": 16893,
"hgvs_c": "c.1087C>G",
"hgvs_p": "p.Arg363Gly",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_005817.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1069,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1824527382850647,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 434,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2232,
"cdna_start": 1163,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_005817.5",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.1087C>G",
"hgvs_p": "p.Arg363Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000221957.9",
"protein_coding": true,
"protein_id": "NP_005808.3",
"strand": false,
"transcript": "NM_005817.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 434,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2232,
"cdna_start": 1163,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000221957.9",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.1087C>G",
"hgvs_p": "p.Arg363Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005817.5",
"protein_coding": true,
"protein_id": "ENSP00000221957.3",
"strand": false,
"transcript": "ENST00000221957.9",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 433,
"aa_ref": "R",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1535,
"cdna_start": 1187,
"cds_end": null,
"cds_length": 1302,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000585479.5",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.1084C>G",
"hgvs_p": "p.Arg362Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465596.1",
"strand": false,
"transcript": "ENST00000585479.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 434,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2218,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000884464.1",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.1087C>G",
"hgvs_p": "p.Arg363Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554523.1",
"strand": false,
"transcript": "ENST00000884464.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 434,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2109,
"cdna_start": 1297,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000884466.1",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.1087C>G",
"hgvs_p": "p.Arg363Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554525.1",
"strand": false,
"transcript": "ENST00000884466.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 434,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2357,
"cdna_start": 1289,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000884467.1",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.1087C>G",
"hgvs_p": "p.Arg363Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554526.1",
"strand": false,
"transcript": "ENST00000884467.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 434,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2316,
"cdna_start": 1248,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000928988.1",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.1087C>G",
"hgvs_p": "p.Arg363Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599047.1",
"strand": false,
"transcript": "ENST00000928988.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 434,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2499,
"cdna_start": 1430,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000928989.1",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.1087C>G",
"hgvs_p": "p.Arg363Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599048.1",
"strand": false,
"transcript": "ENST00000928989.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 434,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2367,
"cdna_start": 1301,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000958157.1",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.1087C>G",
"hgvs_p": "p.Arg363Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628216.1",
"strand": false,
"transcript": "ENST00000958157.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 434,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2387,
"cdna_start": 1321,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000958159.1",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.1087C>G",
"hgvs_p": "p.Arg363Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628218.1",
"strand": false,
"transcript": "ENST00000958159.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 434,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2071,
"cdna_start": 1259,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000958160.1",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.1087C>G",
"hgvs_p": "p.Arg363Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628219.1",
"strand": false,
"transcript": "ENST00000958160.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 434,
"aa_ref": "R",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1931,
"cdna_start": 1282,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000958162.1",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.1087C>G",
"hgvs_p": "p.Arg363Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628221.1",
"strand": false,
"transcript": "ENST00000958162.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 433,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2229,
"cdna_start": 1160,
"cds_end": null,
"cds_length": 1302,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001164189.2",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.1084C>G",
"hgvs_p": "p.Arg362Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157661.1",
"strand": false,
"transcript": "NM_001164189.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 431,
"aa_ref": "R",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": 1154,
"cds_end": null,
"cds_length": 1296,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000884463.1",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.1078C>G",
"hgvs_p": "p.Arg360Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554522.1",
"strand": false,
"transcript": "ENST00000884463.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 430,
"aa_ref": "R",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2270,
"cdna_start": 1201,
"cds_end": null,
"cds_length": 1293,
"cds_start": 1075,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000884460.1",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.1075C>G",
"hgvs_p": "p.Arg359Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554519.1",
"strand": false,
"transcript": "ENST00000884460.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2196,
"cdna_start": 1127,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1051,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001164194.2",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.1051C>G",
"hgvs_p": "p.Arg351Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157666.1",
"strand": false,
"transcript": "NM_001164194.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2154,
"cdna_start": 1113,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1051,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000592528.5",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.1051C>G",
"hgvs_p": "p.Arg351Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467803.1",
"strand": false,
"transcript": "ENST00000592528.5",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1738,
"cdna_start": 1089,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1051,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000958163.1",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.1051C>G",
"hgvs_p": "p.Arg351Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628222.1",
"strand": false,
"transcript": "ENST00000958163.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 392,
"aa_ref": "R",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2138,
"cdna_start": 1069,
"cds_end": null,
"cds_length": 1179,
"cds_start": 961,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000884461.1",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.961C>G",
"hgvs_p": "p.Arg321Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554520.1",
"strand": false,
"transcript": "ENST00000884461.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 391,
"aa_ref": "R",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1885,
"cdna_start": 1048,
"cds_end": null,
"cds_length": 1176,
"cds_start": 958,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000884465.1",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.958C>G",
"hgvs_p": "p.Arg320Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554524.1",
"strand": false,
"transcript": "ENST00000884465.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 391,
"aa_ref": "R",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1824,
"cdna_start": 1034,
"cds_end": null,
"cds_length": 1176,
"cds_start": 958,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000958161.1",
"gene_hgnc_id": 16893,
"gene_symbol": "PLIN3",
"hgvs_c": "c.958C>G",
"hgvs_p": "p.Arg320Gly",
"intron_rank": null,
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}