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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: 14-23955191-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=23955191&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 23955191,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000313250.10",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4",
"gene_hgnc_id": 16985,
"hgvs_c": "c.285C>A",
"hgvs_p": "p.Asp95Glu",
"transcript": "NM_021004.4",
"protein_id": "NP_066284.2",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 278,
"cds_start": 285,
"cds_end": null,
"cds_length": 837,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 1264,
"mane_select": "ENST00000313250.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4",
"gene_hgnc_id": 16985,
"hgvs_c": "c.285C>A",
"hgvs_p": "p.Asp95Glu",
"transcript": "ENST00000313250.10",
"protein_id": "ENSP00000326219.5",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 278,
"cds_start": 285,
"cds_end": null,
"cds_length": 837,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 1264,
"mane_select": "NM_021004.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4",
"gene_hgnc_id": 16985,
"hgvs_c": "c.285C>A",
"hgvs_p": "p.Asp95Glu",
"transcript": "ENST00000558581.5",
"protein_id": "ENSP00000452645.1",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 244,
"cds_start": 285,
"cds_end": null,
"cds_length": 735,
"cdna_start": 285,
"cdna_end": null,
"cdna_length": 1143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4",
"gene_hgnc_id": 16985,
"hgvs_c": "c.285C>A",
"hgvs_p": "p.Asp95Glu",
"transcript": "ENST00000559632.5",
"protein_id": "ENSP00000453983.1",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 199,
"cds_start": 285,
"cds_end": null,
"cds_length": 600,
"cdna_start": 285,
"cdna_end": null,
"cdna_length": 1003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4",
"gene_hgnc_id": 16985,
"hgvs_c": "c.285C>A",
"hgvs_p": "p.Asp95Glu",
"transcript": "NM_001282988.2",
"protein_id": "NP_001269917.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 244,
"cds_start": 285,
"cds_end": null,
"cds_length": 735,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 1162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4",
"gene_hgnc_id": 16985,
"hgvs_c": "c.285C>A",
"hgvs_p": "p.Asp95Glu",
"transcript": "NM_001282990.2",
"protein_id": "NP_001269919.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 199,
"cds_start": 285,
"cds_end": null,
"cds_length": 600,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 1027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4",
"gene_hgnc_id": 16985,
"hgvs_c": "c.285C>A",
"hgvs_p": "p.Asp95Glu",
"transcript": "NM_001282989.2",
"protein_id": "NP_001269918.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 192,
"cds_start": 285,
"cds_end": null,
"cds_length": 579,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 1006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4",
"gene_hgnc_id": 16985,
"hgvs_c": "c.285C>A",
"hgvs_p": "p.Asp95Glu",
"transcript": "ENST00000397075.7",
"protein_id": "ENSP00000380265.3",
"transcript_support_level": 2,
"aa_start": 95,
"aa_end": null,
"aa_length": 192,
"cds_start": 285,
"cds_end": null,
"cds_length": 579,
"cdna_start": 295,
"cdna_end": null,
"cdna_length": 727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4",
"gene_hgnc_id": 16985,
"hgvs_c": "c.285C>A",
"hgvs_p": "p.Asp95Glu",
"transcript": "NM_001282987.2",
"protein_id": "NP_001269916.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 188,
"cds_start": 285,
"cds_end": null,
"cds_length": 567,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 1058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4",
"gene_hgnc_id": 16985,
"hgvs_c": "c.285C>A",
"hgvs_p": "p.Asp95Glu",
"transcript": "ENST00000558263.5",
"protein_id": "ENSP00000453367.1",
"transcript_support_level": 5,
"aa_start": 95,
"aa_end": null,
"aa_length": 188,
"cds_start": 285,
"cds_end": null,
"cds_length": 567,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 1089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4",
"gene_hgnc_id": 16985,
"hgvs_c": "c.285C>A",
"hgvs_p": "p.Asp95Glu",
"transcript": "NM_001282991.2",
"protein_id": "NP_001269920.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 158,
"cds_start": 285,
"cds_end": null,
"cds_length": 477,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4",
"gene_hgnc_id": 16985,
"hgvs_c": "c.285C>A",
"hgvs_p": "p.Asp95Glu",
"transcript": "ENST00000397074.7",
"protein_id": "ENSP00000380264.3",
"transcript_support_level": 5,
"aa_start": 95,
"aa_end": null,
"aa_length": 158,
"cds_start": 285,
"cds_end": null,
"cds_length": 477,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4",
"gene_hgnc_id": 16985,
"hgvs_c": "c.285C>A",
"hgvs_p": "p.Asp95Glu",
"transcript": "NM_001411004.1",
"protein_id": "NP_001397933.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 155,
"cds_start": 285,
"cds_end": null,
"cds_length": 468,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4",
"gene_hgnc_id": 16985,
"hgvs_c": "c.285C>A",
"hgvs_p": "p.Asp95Glu",
"transcript": "ENST00000543741.6",
"protein_id": "ENSP00000440508.2",
"transcript_support_level": 2,
"aa_start": 95,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHRS4",
"gene_hgnc_id": 16985,
"hgvs_c": "c.285C>A",
"hgvs_p": "p.Asp95Glu",
"transcript": "XM_011536366.3",
"protein_id": "XP_011534668.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 142,
"cds_start": 285,
"cds_end": null,
"cds_length": 429,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 816,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DHRS4-AS1",
"gene_hgnc_id": 23175,
"hgvs_c": "n.112-14033G>T",
"hgvs_p": null,
"transcript": "ENST00000558423.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "DHRS4-AS1",
"gene_hgnc_id": 23175,
"hgvs_c": "n.1486-14033G>T",
"hgvs_p": null,
"transcript": "ENST00000654375.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DHRS4-AS1",
"gene_hgnc_id": 23175,
"hgvs_c": "n.213-14033G>T",
"hgvs_p": null,
"transcript": "ENST00000656462.1",
"protein_id": null,
"transcript_support_level": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2609,
"mane_select": null,
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "DHRS4-AS1",
"gene_hgnc_id": 23175,
"hgvs_c": "n.158-14033G>T",
"hgvs_p": null,
"transcript": "ENST00000671464.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "DHRS4-AS1",
"gene_hgnc_id": 23175,
"hgvs_c": "n.71-14033G>T",
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"transcript": "ENST00000830183.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "DHRS4-AS1",
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"hgvs_c": "n.68-14033G>T",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DHRS4-AS1",
"gene_hgnc_id": 23175,
"hgvs_c": "n.62-14033G>T",
"hgvs_p": null,
"transcript": "ENST00000830185.1",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DHRS4-AS1",
"gene_hgnc_id": 23175,
"hgvs_c": "n.355-14033G>T",
"hgvs_p": null,
"transcript": "ENST00000830186.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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}
],
"gene_symbol": "DHRS4",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.237,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.569,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2"
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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"hgvs_p": "p.Asp95Glu"
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{
"score": 2,
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"verdict": "Uncertain_significance",
"transcript": "ENST00000558423.1",
"gene_symbol": "DHRS4-AS1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.112-14033G>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}