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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: 3-47418189-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47418189&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 47418189,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000265565.10",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.2392G>T",
"hgvs_p": "p.Val798Phe",
"transcript": "NM_012235.4",
"protein_id": "NP_036367.2",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 1279,
"cds_start": 2392,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 2633,
"cdna_end": null,
"cdna_length": 4254,
"mane_select": "ENST00000265565.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.2392G>T",
"hgvs_p": "p.Val798Phe",
"transcript": "ENST00000265565.10",
"protein_id": "ENSP00000265565.5",
"transcript_support_level": 1,
"aa_start": 798,
"aa_end": null,
"aa_length": 1279,
"cds_start": 2392,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 2633,
"cdna_end": null,
"cdna_length": 4254,
"mane_select": "NM_012235.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.2392G>T",
"hgvs_p": "p.Val798Phe",
"transcript": "ENST00000648151.1",
"protein_id": "ENSP00000497087.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 1279,
"cds_start": 2392,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 2622,
"cdna_end": null,
"cdna_length": 4188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.1627G>T",
"hgvs_p": "p.Val543Phe",
"transcript": "NM_001320044.2",
"protein_id": "NP_001306973.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1023,
"cds_start": 1627,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 2148,
"cdna_end": null,
"cdna_length": 3766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.2392G>T",
"hgvs_p": "p.Val798Phe",
"transcript": "XM_011533501.2",
"protein_id": "XP_011531803.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 1279,
"cds_start": 2392,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 2679,
"cdna_end": null,
"cdna_length": 4300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.2392G>T",
"hgvs_p": "p.Val798Phe",
"transcript": "XM_017005918.2",
"protein_id": "XP_016861407.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 1279,
"cds_start": 2392,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 2868,
"cdna_end": null,
"cdna_length": 4489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.2392G>T",
"hgvs_p": "p.Val798Phe",
"transcript": "XM_047447732.1",
"protein_id": "XP_047303688.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 1279,
"cds_start": 2392,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 3527,
"cdna_end": null,
"cdna_length": 5148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.2392G>T",
"hgvs_p": "p.Val798Phe",
"transcript": "XM_047447733.1",
"protein_id": "XP_047303689.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 1279,
"cds_start": 2392,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 2774,
"cdna_end": null,
"cdna_length": 4395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.2392G>T",
"hgvs_p": "p.Val798Phe",
"transcript": "XM_047447734.1",
"protein_id": "XP_047303690.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 1279,
"cds_start": 2392,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 2558,
"cdna_end": null,
"cdna_length": 4179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.2392G>T",
"hgvs_p": "p.Val798Phe",
"transcript": "XM_047447735.1",
"protein_id": "XP_047303691.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 1279,
"cds_start": 2392,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 2573,
"cdna_end": null,
"cdna_length": 4194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.2392G>T",
"hgvs_p": "p.Val798Phe",
"transcript": "XM_047447736.1",
"protein_id": "XP_047303692.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 1279,
"cds_start": 2392,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 2685,
"cdna_end": null,
"cdna_length": 4306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.2392G>T",
"hgvs_p": "p.Val798Phe",
"transcript": "XM_005264967.3",
"protein_id": "XP_005265024.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 1278,
"cds_start": 2392,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 2633,
"cdna_end": null,
"cdna_length": 4251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.2392G>T",
"hgvs_p": "p.Val798Phe",
"transcript": "XM_047447737.1",
"protein_id": "XP_047303693.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 1278,
"cds_start": 2392,
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"cdna_start": 3527,
"cdna_end": null,
"cdna_length": 5145,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.2392G>T",
"hgvs_p": "p.Val798Phe",
"transcript": "XM_047447738.1",
"protein_id": "XP_047303694.1",
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"cds_start": 2392,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.2392G>T",
"hgvs_p": "p.Val798Phe",
"transcript": "XM_047447739.1",
"protein_id": "XP_047303695.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 1278,
"cds_start": 2392,
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"cdna_start": 6138,
"cdna_end": null,
"cdna_length": 7756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.2392G>T",
"hgvs_p": "p.Val798Phe",
"transcript": "XM_047447740.1",
"protein_id": "XP_047303696.1",
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"aa_end": null,
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"cds_start": 2392,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.1702G>T",
"hgvs_p": "p.Val568Phe",
"transcript": "XM_047447741.1",
"protein_id": "XP_047303697.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 1049,
"cds_start": 1702,
"cds_end": null,
"cds_length": 3150,
"cdna_start": 2288,
"cdna_end": null,
"cdna_length": 3909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.1627G>T",
"hgvs_p": "p.Val543Phe",
"transcript": "XM_047447742.1",
"protein_id": "XP_047303698.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1024,
"cds_start": 1627,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 1720,
"cdna_end": null,
"cdna_length": 3341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.1249G>T",
"hgvs_p": "p.Val417Phe",
"transcript": "XM_011533502.4",
"protein_id": "XP_011531804.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 898,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.1249G>T",
"hgvs_p": "p.Val417Phe",
"transcript": "XM_047447743.1",
"protein_id": "XP_047303699.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 897,
"cds_start": 1249,
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"cdna_start": 1342,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "c.1216G>T",
"hgvs_p": "p.Val406Phe",
"transcript": "XM_047447744.1",
"protein_id": "XP_047303700.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 887,
"cds_start": 1216,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 1307,
"cdna_end": null,
"cdna_length": 2928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAP",
"gene_hgnc_id": 30634,
"hgvs_c": "n.*1109G>T",
"hgvs_p": null,
"transcript": "ENST00000320017.10",
"protein_id": "ENSP00000324296.6",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAP",
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{
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"alphamissense_prediction": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP4"
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}