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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: 17-2692598-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=2692598&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 2692598,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001366661.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3411A>C",
"hgvs_p": "p.Glu1137Asp",
"transcript": "NM_001366661.1",
"protein_id": "NP_001353590.1",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1348,
"cds_start": 3411,
"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": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3411A>C",
"hgvs_p": "p.Glu1137Asp",
"transcript": "ENST00000651024.2",
"protein_id": "ENSP00000498679.1",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1348,
"cds_start": 3411,
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "n.735A>C",
"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": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3429A>C",
"hgvs_p": "p.Glu1143Asp",
"transcript": "ENST00000876318.1",
"protein_id": "ENSP00000546377.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1354,
"cds_start": 3429,
"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": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3426A>C",
"hgvs_p": "p.Glu1142Asp",
"transcript": "ENST00000876317.1",
"protein_id": "ENSP00000546376.1",
"transcript_support_level": null,
"aa_start": 1142,
"aa_end": null,
"aa_length": 1353,
"cds_start": 3426,
"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": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3426A>C",
"hgvs_p": "p.Glu1142Asp",
"transcript": "ENST00000923741.1",
"protein_id": "ENSP00000593800.1",
"transcript_support_level": null,
"aa_start": 1142,
"aa_end": null,
"aa_length": 1353,
"cds_start": 3426,
"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": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3423A>C",
"hgvs_p": "p.Glu1141Asp",
"transcript": "ENST00000923739.1",
"protein_id": "ENSP00000593798.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1352,
"cds_start": 3423,
"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": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3408A>C",
"hgvs_p": "p.Glu1136Asp",
"transcript": "NM_015229.4",
"protein_id": "NP_056044.4",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1347,
"cds_start": 3408,
"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": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3402A>C",
"hgvs_p": "p.Glu1134Asp",
"transcript": "ENST00000923740.1",
"protein_id": "ENSP00000593799.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1345,
"cds_start": 3402,
"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": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3399A>C",
"hgvs_p": "p.Glu1133Asp",
"transcript": "ENST00000876316.1",
"protein_id": "ENSP00000546375.1",
"transcript_support_level": null,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1344,
"cds_start": 3399,
"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": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3294A>C",
"hgvs_p": "p.Glu1098Asp",
"transcript": "NM_001366662.1",
"protein_id": "NP_001353591.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1309,
"cds_start": 3294,
"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": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3294A>C",
"hgvs_p": "p.Glu1098Asp",
"transcript": "ENST00000435359.5",
"protein_id": "ENSP00000388872.1",
"transcript_support_level": 5,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1309,
"cds_start": 3294,
"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": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3294A>C",
"hgvs_p": "p.Glu1098Asp",
"transcript": "ENST00000570628.6",
"protein_id": "ENSP00000458986.1",
"transcript_support_level": 2,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1309,
"cds_start": 3294,
"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": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3258A>C",
"hgvs_p": "p.Glu1086Asp",
"transcript": "ENST00000574426.7",
"protein_id": "ENSP00000459540.3",
"transcript_support_level": 5,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1297,
"cds_start": 3258,
"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": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3117A>C",
"hgvs_p": "p.Glu1039Asp",
"transcript": "ENST00000575014.5",
"protein_id": "ENSP00000464732.2",
"transcript_support_level": 5,
"aa_start": 1039,
"aa_end": null,
"aa_length": 1250,
"cds_start": 3117,
"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": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3879A>C",
"hgvs_p": "p.Glu1293Asp",
"transcript": "XM_024450675.2",
"protein_id": "XP_024306443.2",
"transcript_support_level": null,
"aa_start": 1293,
"aa_end": null,
"aa_length": 1504,
"cds_start": 3879,
"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": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3876A>C",
"hgvs_p": "p.Glu1292Asp",
"transcript": "XM_024450676.2",
"protein_id": "XP_024306444.2",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1503,
"cds_start": 3876,
"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": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3297A>C",
"hgvs_p": "p.Glu1099Asp",
"transcript": "XM_011523768.4",
"protein_id": "XP_011522070.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1310,
"cds_start": 3297,
"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": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3297A>C",
"hgvs_p": "p.Glu1099Asp",
"transcript": "XM_024450679.2",
"protein_id": "XP_024306447.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1310,
"cds_start": 3297,
"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": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3297A>C",
"hgvs_p": "p.Glu1099Asp",
"transcript": "XM_047435692.1",
"protein_id": "XP_047291648.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1310,
"cds_start": 3297,
"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": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3297A>C",
"hgvs_p": "p.Glu1099Asp",
"transcript": "XM_047435693.1",
"protein_id": "XP_047291649.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1310,
"cds_start": 3297,
"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": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLUH",
"gene_hgnc_id": 29094,
"hgvs_c": "c.3294A>C",
"hgvs_p": "p.Glu1098Asp",
"transcript": "XM_047435694.1",
"protein_id": "XP_047291650.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1309,
"cds_start": 3294,
"cds_end": null,
"cds_length": 3930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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],
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"gene_symbol": "CLUH",
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"biotype": "protein_coding",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 5,
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"gene_symbol": "CLUH",
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"hgvs_c": "n.352A>C",
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"transcript": "ENST00000572014.1",
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"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000572014.1"
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],
"gene_symbol": "CLUH",
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"dbsnp": "rs752312296",
"frequency_reference_population": 6.847805e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8478e-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": 0.25130268931388855,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.313,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3847,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.186,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001366661.1",
"gene_symbol": "CLUH",
"hgnc_id": 29094,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3411A>C",
"hgvs_p": "p.Glu1137Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}