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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: 17-2693943-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=2693943&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 2693943,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001366661.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3188G>A",
"hgvs_p": "p.Arg1063His",
"transcript": "NM_001366661.1",
"protein_id": "NP_001353590.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1348,
"cds_start": 3188,
"cds_end": null,
"cds_length": 4047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000651024.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366661.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3188G>A",
"hgvs_p": "p.Arg1063His",
"transcript": "ENST00000651024.2",
"protein_id": "ENSP00000498679.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1348,
"cds_start": 3188,
"cds_end": null,
"cds_length": 4047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001366661.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651024.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "n.512G>A",
"hgvs_p": null,
"transcript": "ENST00000574210.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000574210.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3206G>A",
"hgvs_p": "p.Arg1069His",
"transcript": "ENST00000876318.1",
"protein_id": "ENSP00000546377.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1354,
"cds_start": 3206,
"cds_end": null,
"cds_length": 4065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876318.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3203G>A",
"hgvs_p": "p.Arg1068His",
"transcript": "ENST00000876317.1",
"protein_id": "ENSP00000546376.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1353,
"cds_start": 3203,
"cds_end": null,
"cds_length": 4062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876317.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3203G>A",
"hgvs_p": "p.Arg1068His",
"transcript": "ENST00000923741.1",
"protein_id": "ENSP00000593800.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1353,
"cds_start": 3203,
"cds_end": null,
"cds_length": 4062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923741.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3200G>A",
"hgvs_p": "p.Arg1067His",
"transcript": "ENST00000923739.1",
"protein_id": "ENSP00000593798.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1352,
"cds_start": 3200,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923739.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3185G>A",
"hgvs_p": "p.Arg1062His",
"transcript": "NM_015229.4",
"protein_id": "NP_056044.4",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1347,
"cds_start": 3185,
"cds_end": null,
"cds_length": 4044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015229.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3179G>A",
"hgvs_p": "p.Arg1060His",
"transcript": "ENST00000923740.1",
"protein_id": "ENSP00000593799.1",
"transcript_support_level": null,
"aa_start": 1060,
"aa_end": null,
"aa_length": 1345,
"cds_start": 3179,
"cds_end": null,
"cds_length": 4038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923740.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3176G>A",
"hgvs_p": "p.Arg1059His",
"transcript": "ENST00000876316.1",
"protein_id": "ENSP00000546375.1",
"transcript_support_level": null,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1344,
"cds_start": 3176,
"cds_end": null,
"cds_length": 4035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876316.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3071G>A",
"hgvs_p": "p.Arg1024His",
"transcript": "NM_001366662.1",
"protein_id": "NP_001353591.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1309,
"cds_start": 3071,
"cds_end": null,
"cds_length": 3930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366662.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3071G>A",
"hgvs_p": "p.Arg1024His",
"transcript": "ENST00000435359.5",
"protein_id": "ENSP00000388872.1",
"transcript_support_level": 5,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1309,
"cds_start": 3071,
"cds_end": null,
"cds_length": 3930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435359.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3071G>A",
"hgvs_p": "p.Arg1024His",
"transcript": "ENST00000570628.6",
"protein_id": "ENSP00000458986.1",
"transcript_support_level": 2,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1309,
"cds_start": 3071,
"cds_end": null,
"cds_length": 3930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570628.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3035G>A",
"hgvs_p": "p.Arg1012His",
"transcript": "ENST00000574426.7",
"protein_id": "ENSP00000459540.3",
"transcript_support_level": 5,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1297,
"cds_start": 3035,
"cds_end": null,
"cds_length": 3894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000574426.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.2894G>A",
"hgvs_p": "p.Arg965His",
"transcript": "ENST00000575014.5",
"protein_id": "ENSP00000464732.2",
"transcript_support_level": 5,
"aa_start": 965,
"aa_end": null,
"aa_length": 1250,
"cds_start": 2894,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575014.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3656G>A",
"hgvs_p": "p.Arg1219His",
"transcript": "XM_024450675.2",
"protein_id": "XP_024306443.2",
"transcript_support_level": null,
"aa_start": 1219,
"aa_end": null,
"aa_length": 1504,
"cds_start": 3656,
"cds_end": null,
"cds_length": 4515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450675.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3653G>A",
"hgvs_p": "p.Arg1218His",
"transcript": "XM_024450676.2",
"protein_id": "XP_024306444.2",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1503,
"cds_start": 3653,
"cds_end": null,
"cds_length": 4512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450676.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3074G>A",
"hgvs_p": "p.Arg1025His",
"transcript": "XM_011523768.4",
"protein_id": "XP_011522070.1",
"transcript_support_level": null,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1310,
"cds_start": 3074,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523768.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3074G>A",
"hgvs_p": "p.Arg1025His",
"transcript": "XM_024450679.2",
"protein_id": "XP_024306447.1",
"transcript_support_level": null,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1310,
"cds_start": 3074,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450679.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3074G>A",
"hgvs_p": "p.Arg1025His",
"transcript": "XM_047435692.1",
"protein_id": "XP_047291648.1",
"transcript_support_level": null,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1310,
"cds_start": 3074,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435692.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3074G>A",
"hgvs_p": "p.Arg1025His",
"transcript": "XM_047435693.1",
"protein_id": "XP_047291649.1",
"transcript_support_level": null,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1310,
"cds_start": 3074,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435693.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3071G>A",
"hgvs_p": "p.Arg1024His",
"transcript": "XM_047435694.1",
"protein_id": "XP_047291650.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1309,
"cds_start": 3071,
"cds_end": null,
"cds_length": 3930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435694.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3071G>A",
"hgvs_p": "p.Arg1024His",
"transcript": "XM_047435695.1",
"protein_id": "XP_047291651.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1309,
"cds_start": 3071,
"cds_end": null,
"cds_length": 3930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435695.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "n.129G>A",
"hgvs_p": null,
"transcript": "ENST00000572014.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000572014.1"
}
],
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"dbsnp": "rs745317633",
"frequency_reference_population": 0.000008678124,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000752871,
"gnomad_genomes_af": 0.0000197138,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9051346778869629,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.677,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4135,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.566,
"phylop100way_prediction": "Pathogenic",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001366661.1",
"gene_symbol": "CLUH",
"hgnc_id": 29094,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3188G>A",
"hgvs_p": "p.Arg1063His"
}
],
"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
}