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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: 15-42199650-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=42199650&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 42199650,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001301138.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS39",
"gene_hgnc_id": 20593,
"hgvs_c": "c.139+246T>G",
"hgvs_p": null,
"transcript": "NM_015289.5",
"protein_id": "NP_056104.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 875,
"cds_start": null,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318006.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015289.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS39",
"gene_hgnc_id": 20593,
"hgvs_c": "c.139+246T>G",
"hgvs_p": null,
"transcript": "ENST00000318006.10",
"protein_id": "ENSP00000326534.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 875,
"cds_start": null,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015289.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318006.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS39",
"gene_hgnc_id": 20593,
"hgvs_c": "c.139+246T>G",
"hgvs_p": null,
"transcript": "ENST00000348544.4",
"protein_id": "ENSP00000335193.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 886,
"cds_start": null,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348544.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS39",
"gene_hgnc_id": 20593,
"hgvs_c": "c.139+246T>G",
"hgvs_p": null,
"transcript": "NM_001301138.3",
"protein_id": "NP_001288067.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 886,
"cds_start": null,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301138.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS39",
"gene_hgnc_id": 20593,
"hgvs_c": "c.139+246T>G",
"hgvs_p": null,
"transcript": "ENST00000961232.1",
"protein_id": "ENSP00000631291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 882,
"cds_start": null,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961232.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS39",
"gene_hgnc_id": 20593,
"hgvs_c": "c.139+246T>G",
"hgvs_p": null,
"transcript": "ENST00000928544.1",
"protein_id": "ENSP00000598603.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 881,
"cds_start": null,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928544.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS39",
"gene_hgnc_id": 20593,
"hgvs_c": "c.139+246T>G",
"hgvs_p": null,
"transcript": "ENST00000961229.1",
"protein_id": "ENSP00000631288.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 872,
"cds_start": null,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961229.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS39",
"gene_hgnc_id": 20593,
"hgvs_c": "c.139+246T>G",
"hgvs_p": null,
"transcript": "ENST00000928542.1",
"protein_id": "ENSP00000598601.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 866,
"cds_start": null,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928542.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS39",
"gene_hgnc_id": 20593,
"hgvs_c": "c.139+246T>G",
"hgvs_p": null,
"transcript": "ENST00000928543.1",
"protein_id": "ENSP00000598602.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 863,
"cds_start": null,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928543.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS39",
"gene_hgnc_id": 20593,
"hgvs_c": "c.139+246T>G",
"hgvs_p": null,
"transcript": "ENST00000961230.1",
"protein_id": "ENSP00000631289.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 860,
"cds_start": null,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961230.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS39",
"gene_hgnc_id": 20593,
"hgvs_c": "c.139+246T>G",
"hgvs_p": null,
"transcript": "ENST00000928545.1",
"protein_id": "ENSP00000598604.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 855,
"cds_start": null,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928545.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VPS39",
"gene_hgnc_id": 20593,
"hgvs_c": "c.74-8090T>G",
"hgvs_p": null,
"transcript": "ENST00000928541.1",
"protein_id": "ENSP00000598600.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 853,
"cds_start": null,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928541.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS39",
"gene_hgnc_id": 20593,
"hgvs_c": "c.139+246T>G",
"hgvs_p": null,
"transcript": "ENST00000961228.1",
"protein_id": "ENSP00000631287.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 844,
"cds_start": null,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961228.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS39",
"gene_hgnc_id": 20593,
"hgvs_c": "c.139+246T>G",
"hgvs_p": null,
"transcript": "ENST00000906182.1",
"protein_id": "ENSP00000576241.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 842,
"cds_start": null,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906182.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS39",
"gene_hgnc_id": 20593,
"hgvs_c": "c.139+246T>G",
"hgvs_p": null,
"transcript": "ENST00000961233.1",
"protein_id": "ENSP00000631292.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 830,
"cds_start": null,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961233.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS39",
"gene_hgnc_id": 20593,
"hgvs_c": "c.139+246T>G",
"hgvs_p": null,
"transcript": "ENST00000961227.1",
"protein_id": "ENSP00000631286.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 811,
"cds_start": null,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961227.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS39",
"gene_hgnc_id": 20593,
"hgvs_c": "c.139+246T>G",
"hgvs_p": null,
"transcript": "ENST00000961231.1",
"protein_id": "ENSP00000631290.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 784,
"cds_start": null,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961231.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS39",
"gene_hgnc_id": 20593,
"hgvs_c": "c.139+246T>G",
"hgvs_p": null,
"transcript": "XM_011521403.3",
"protein_id": "XP_011519705.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 907,
"cds_start": null,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521403.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS39",
"gene_hgnc_id": 20593,
"hgvs_c": "c.139+246T>G",
"hgvs_p": null,
"transcript": "XM_011521404.3",
"protein_id": "XP_011519706.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 896,
"cds_start": null,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521404.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS39",
"gene_hgnc_id": 20593,
"hgvs_c": "c.139+246T>G",
"hgvs_p": null,
"transcript": "XM_047432322.1",
"protein_id": "XP_047288278.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 648,
"cds_start": null,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432322.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR627",
"gene_hgnc_id": 32883,
"hgvs_c": "n.17T>G",
"hgvs_p": null,
"transcript": "ENST00000384979.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "miRNA",
"feature": "ENST00000384979.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR627",
"gene_hgnc_id": 32883,
"hgvs_c": "n.17T>G",
"hgvs_p": null,
"transcript": "NR_030357.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_030357.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR627",
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{
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{
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],
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"hom_count_reference_population": 840,
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"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.215,
"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,
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"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong",
"BA1"
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"verdict": "Benign",
"transcript": "NM_001301138.3",
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"effects": [
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"inheritance_mode": "AD",
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{
"score": -12,
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"BP4_Strong",
"BA1"
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"verdict": "Benign",
"transcript": "NR_030357.1",
"gene_symbol": "MIR627",
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"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.17T>G",
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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
}