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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: 2-161236129-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=161236129&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 161236129,
"ref": "G",
"alt": "A",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000392749.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.*611G>A",
"hgvs_p": null,
"transcript": "NM_001199135.3",
"protein_id": "NP_001186064.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": -4,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": "ENST00000392749.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.*611G>A",
"hgvs_p": null,
"transcript": "ENST00000392749.7",
"protein_id": "ENSP00000376505.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": -4,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": "NM_001199135.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.*611G>A",
"hgvs_p": null,
"transcript": "ENST00000259075.6",
"protein_id": "ENSP00000259075.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": -4,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.*611G>A",
"hgvs_p": null,
"transcript": "NM_004180.3",
"protein_id": "NP_004171.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": -4,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.*739G>A",
"hgvs_p": null,
"transcript": "ENST00000405852.5",
"protein_id": "ENSP00000385487.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 408,
"cds_start": -4,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.*837G>A",
"hgvs_p": null,
"transcript": "ENST00000437623.1",
"protein_id": "ENSP00000412556.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": -4,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.*611G>A",
"hgvs_p": null,
"transcript": "XM_047441804.1",
"protein_id": "XP_047297760.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 579,
"cds_start": -4,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.*611G>A",
"hgvs_p": null,
"transcript": "XM_005246207.4",
"protein_id": "XP_005246264.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": -4,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.*611G>A",
"hgvs_p": null,
"transcript": "XM_047441805.1",
"protein_id": "XP_047297761.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 530,
"cds_start": -4,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.*611G>A",
"hgvs_p": null,
"transcript": "XM_047441806.1",
"protein_id": "XP_047297762.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 530,
"cds_start": -4,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.*611G>A",
"hgvs_p": null,
"transcript": "XM_047441809.1",
"protein_id": "XP_047297765.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2226,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.*611G>A",
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"transcript": "XM_047441812.1",
"protein_id": "XP_047297768.1",
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.*611G>A",
"hgvs_p": null,
"transcript": "XM_047441814.1",
"protein_id": "XP_047297770.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 9,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "TANK",
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"hgvs_c": "c.*611G>A",
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"transcript": "XM_024452335.2",
"protein_id": "XP_024308103.1",
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},
{
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"strand": true,
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],
"exon_rank": 9,
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"intron_rank": null,
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"gene_symbol": "TANK",
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"hgvs_c": "c.*611G>A",
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"transcript": "XM_047441820.1",
"protein_id": "XP_047297776.1",
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"aa_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"hgvs_c": "c.*611G>A",
"hgvs_p": null,
"transcript": "XM_047441821.1",
"protein_id": "XP_047297777.1",
"transcript_support_level": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PSMD14-DT",
"gene_hgnc_id": 56104,
"hgvs_c": "n.385+12395C>T",
"hgvs_p": null,
"transcript": "ENST00000421122.8",
"protein_id": null,
"transcript_support_level": 3,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PSMD14-DT",
"gene_hgnc_id": 56104,
"hgvs_c": "n.230-8996C>T",
"hgvs_p": null,
"transcript": "ENST00000445372.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 538,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PSMD14-DT",
"gene_hgnc_id": 56104,
"hgvs_c": "n.271+12395C>T",
"hgvs_p": null,
"transcript": "ENST00000803724.1",
"protein_id": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PSMD14-DT",
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"hgvs_c": "n.494+12395C>T",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PSMD14-DT",
"gene_hgnc_id": 56104,
"hgvs_c": "n.473+12395C>T",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PSMD14-DT",
"gene_hgnc_id": 56104,
"hgvs_c": "n.198+12395C>T",
"hgvs_p": null,
"transcript": "ENST00000803729.1",
"protein_id": null,
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"cds_start": -4,
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"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": "PSMD14-DT",
"gene_hgnc_id": 56104,
"hgvs_c": "n.227+8394C>T",
"hgvs_p": null,
"transcript": "ENST00000803730.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
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"intron_variant"
],
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "PSMD14-DT",
"gene_hgnc_id": 56104,
"hgvs_c": "n.348+12395C>T",
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"transcript": "NR_110593.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 574,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TANK",
"gene_hgnc_id": 11562,
"dbsnp": "rs7309",
"frequency_reference_population": 0.4265612,
"hom_count_reference_population": 14328,
"allele_count_reference_population": 63962,
"gnomad_exomes_af": 1,
"gnomad_genomes_af": 0.426554,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 63960,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 14327,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9900000095367432,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.99,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.895,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000392749.7",
"gene_symbol": "TANK",
"hgnc_id": 11562,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*611G>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000421122.8",
"gene_symbol": "PSMD14-DT",
"hgnc_id": 56104,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.385+12395C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}