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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: 1-119757431-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=119757431&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 119757431,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005518.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.858C>G",
"hgvs_p": "p.Ser286Arg",
"transcript": "NM_005518.4",
"protein_id": "NP_005509.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 508,
"cds_start": 858,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 2433,
"mane_select": "ENST00000369406.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005518.4"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.858C>G",
"hgvs_p": "p.Ser286Arg",
"transcript": "ENST00000369406.8",
"protein_id": "ENSP00000358414.3",
"transcript_support_level": 1,
"aa_start": 286,
"aa_end": null,
"aa_length": 508,
"cds_start": 858,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 2433,
"mane_select": "NM_005518.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369406.8"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.885C>G",
"hgvs_p": "p.Ser295Arg",
"transcript": "ENST00000886233.1",
"protein_id": "ENSP00000556292.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 517,
"cds_start": 885,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 946,
"cdna_end": null,
"cdna_length": 2439,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886233.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.858C>G",
"hgvs_p": "p.Ser286Arg",
"transcript": "ENST00000886228.1",
"protein_id": "ENSP00000556287.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 508,
"cds_start": 858,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 2595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886228.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.858C>G",
"hgvs_p": "p.Ser286Arg",
"transcript": "ENST00000886229.1",
"protein_id": "ENSP00000556288.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 508,
"cds_start": 858,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 2538,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886229.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.858C>G",
"hgvs_p": "p.Ser286Arg",
"transcript": "ENST00000886230.1",
"protein_id": "ENSP00000556289.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 508,
"cds_start": 858,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 2652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886230.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.858C>G",
"hgvs_p": "p.Ser286Arg",
"transcript": "ENST00000886231.1",
"protein_id": "ENSP00000556290.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 508,
"cds_start": 858,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 2406,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886231.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.858C>G",
"hgvs_p": "p.Ser286Arg",
"transcript": "ENST00000886234.1",
"protein_id": "ENSP00000556293.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 508,
"cds_start": 858,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 974,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886234.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.858C>G",
"hgvs_p": "p.Ser286Arg",
"transcript": "ENST00000886236.1",
"protein_id": "ENSP00000556295.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 508,
"cds_start": 858,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 4016,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886236.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.858C>G",
"hgvs_p": "p.Ser286Arg",
"transcript": "ENST00000886238.1",
"protein_id": "ENSP00000556297.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 508,
"cds_start": 858,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 1832,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886238.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.858C>G",
"hgvs_p": "p.Ser286Arg",
"transcript": "ENST00000886239.1",
"protein_id": "ENSP00000556298.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 508,
"cds_start": 858,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 3649,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886239.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.858C>G",
"hgvs_p": "p.Ser286Arg",
"transcript": "ENST00000886241.1",
"protein_id": "ENSP00000556300.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 508,
"cds_start": 858,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 2275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886241.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.858C>G",
"hgvs_p": "p.Ser286Arg",
"transcript": "ENST00000886242.1",
"protein_id": "ENSP00000556301.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 508,
"cds_start": 858,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886242.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.858C>G",
"hgvs_p": "p.Ser286Arg",
"transcript": "ENST00000886240.1",
"protein_id": "ENSP00000556299.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 500,
"cds_start": 858,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 2029,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886240.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.858C>G",
"hgvs_p": "p.Ser286Arg",
"transcript": "ENST00000886244.1",
"protein_id": "ENSP00000556303.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 498,
"cds_start": 858,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 2023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886244.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.780C>G",
"hgvs_p": "p.Ser260Arg",
"transcript": "ENST00000886243.1",
"protein_id": "ENSP00000556302.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 482,
"cds_start": 780,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 1975,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886243.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.732C>G",
"hgvs_p": "p.Ser244Arg",
"transcript": "NM_001166107.1",
"protein_id": "NP_001159579.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 466,
"cds_start": 732,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 2340,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166107.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.732C>G",
"hgvs_p": "p.Ser244Arg",
"transcript": "ENST00000544913.2",
"protein_id": "ENSP00000439495.2",
"transcript_support_level": 2,
"aa_start": 244,
"aa_end": null,
"aa_length": 466,
"cds_start": 732,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 1925,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544913.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.858C>G",
"hgvs_p": "p.Ser286Arg",
"transcript": "ENST00000886237.1",
"protein_id": "ENSP00000556296.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 451,
"cds_start": 858,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 1882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886237.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.567C>G",
"hgvs_p": "p.Ser189Arg",
"transcript": "ENST00000886232.1",
"protein_id": "ENSP00000556291.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 411,
"cds_start": 567,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 2121,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886232.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.685+2433C>G",
"hgvs_p": null,
"transcript": "ENST00000886245.1",
"protein_id": "ENSP00000556304.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 305,
"cds_start": null,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1427,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886245.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HMGCS2",
"gene_hgnc_id": 5008,
"hgvs_c": "c.560-4757C>G",
"hgvs_p": null,
"transcript": "ENST00000886235.1",
"protein_id": "ENSP00000556294.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 263,
"cds_start": null,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1353,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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"non_coding_transcript_exon_variant"
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"biotype": "pseudogene",
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
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"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 4,
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"gene_symbol": "HMGCS2",
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"hgvs_c": "n.589C>G",
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"transcript": "ENST00000476640.1",
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"biotype": "pseudogene",
"feature": "ENST00000476640.1"
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],
"gene_symbol": "HMGCS2",
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"dbsnp": "rs1992376",
"frequency_reference_population": 6.841967e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84197e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10105374455451965,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.109,
"revel_prediction": "Benign",
"alphamissense_score": 0.1285,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.95,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 2,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005518.4",
"gene_symbol": "HMGCS2",
"hgnc_id": 5008,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.858C>G",
"hgvs_p": "p.Ser286Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}