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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: 12-6355286-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6355286&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6355286,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001159576.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "c.1129A>G",
"hgvs_p": "p.Ile377Val",
"transcript": "NM_001038.6",
"protein_id": "NP_001029.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 669,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000228916.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001038.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "c.1129A>G",
"hgvs_p": "p.Ile377Val",
"transcript": "ENST00000228916.7",
"protein_id": "ENSP00000228916.2",
"transcript_support_level": 1,
"aa_start": 377,
"aa_end": null,
"aa_length": 669,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001038.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000228916.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Ile436Val",
"transcript": "ENST00000360168.7",
"protein_id": "ENSP00000353292.3",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 728,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360168.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "c.229A>G",
"hgvs_p": "p.Ile77Val",
"transcript": "ENST00000540037.5",
"protein_id": "ENSP00000440876.1",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 369,
"cds_start": 229,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540037.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Ile436Val",
"transcript": "NM_001159576.2",
"protein_id": "NP_001153048.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 728,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159576.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "c.1198A>G",
"hgvs_p": "p.Ile400Val",
"transcript": "NM_001159575.2",
"protein_id": "NP_001153047.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 692,
"cds_start": 1198,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159575.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "c.1198A>G",
"hgvs_p": "p.Ile400Val",
"transcript": "ENST00000543768.1",
"protein_id": "ENSP00000438739.1",
"transcript_support_level": 2,
"aa_start": 400,
"aa_end": null,
"aa_length": 692,
"cds_start": 1198,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543768.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "c.1129A>G",
"hgvs_p": "p.Ile377Val",
"transcript": "ENST00000868221.1",
"protein_id": "ENSP00000538280.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 669,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868221.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "c.1129A>G",
"hgvs_p": "p.Ile377Val",
"transcript": "ENST00000868222.1",
"protein_id": "ENSP00000538281.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 669,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868222.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "c.1129A>G",
"hgvs_p": "p.Ile377Val",
"transcript": "ENST00000868223.1",
"protein_id": "ENSP00000538282.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 669,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868223.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "c.1129A>G",
"hgvs_p": "p.Ile377Val",
"transcript": "ENST00000868224.1",
"protein_id": "ENSP00000538283.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 669,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868224.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "c.1129A>G",
"hgvs_p": "p.Ile377Val",
"transcript": "ENST00000868225.1",
"protein_id": "ENSP00000538284.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 669,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868225.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "c.1129A>G",
"hgvs_p": "p.Ile377Val",
"transcript": "ENST00000868226.1",
"protein_id": "ENSP00000538285.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 669,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868226.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "c.1129A>G",
"hgvs_p": "p.Ile377Val",
"transcript": "ENST00000868227.1",
"protein_id": "ENSP00000538286.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 669,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868227.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "c.1129A>G",
"hgvs_p": "p.Ile377Val",
"transcript": "ENST00000868228.1",
"protein_id": "ENSP00000538287.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 669,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868228.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "c.1129A>G",
"hgvs_p": "p.Ile377Val",
"transcript": "ENST00000868229.1",
"protein_id": "ENSP00000538288.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 669,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868229.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "c.1129A>G",
"hgvs_p": "p.Ile377Val",
"transcript": "ENST00000868230.1",
"protein_id": "ENSP00000538289.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 669,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868230.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "c.1129A>G",
"hgvs_p": "p.Ile377Val",
"transcript": "ENST00000868231.1",
"protein_id": "ENSP00000538290.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 669,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868231.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "c.1129A>G",
"hgvs_p": "p.Ile377Val",
"transcript": "ENST00000868232.1",
"protein_id": "ENSP00000538291.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 669,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868232.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "c.1129A>G",
"hgvs_p": "p.Ile377Val",
"transcript": "ENST00000930631.1",
"protein_id": "ENSP00000600690.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 669,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930631.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "c.1129A>G",
"hgvs_p": "p.Ile377Val",
"transcript": "ENST00000396966.6",
"protein_id": "ENSP00000380166.2",
"transcript_support_level": 3,
"aa_start": 377,
"aa_end": null,
"aa_length": 511,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396966.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCNN1A",
"gene_hgnc_id": 10599,
"hgvs_c": "n.*200A>G",
"hgvs_p": null,
"transcript": "ENST00000338748.9",
"protein_id": "ENSP00000345028.5",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
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{
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{
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],
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{
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],
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"gene_symbol": "SCNN1A",
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{
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"gene_symbol": "SCNN1A",
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"biotype": "pseudogene",
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],
"gene_symbol": "SCNN1A",
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"dbsnp": "rs193920773",
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"hom_count_reference_population": 0,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.41792064905166626,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.331,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1375,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.189,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
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"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
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"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_001159576.2",
"gene_symbol": "SCNN1A",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,Unknown",
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Ile436Val"
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{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007063191.1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
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}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}