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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: 8-144051482-CG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144051482&ref=CG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144051482,
"ref": "CG",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_017570.5",
"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": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3721-11delC",
"hgvs_p": null,
"transcript": "NM_017570.5",
"protein_id": "NP_060040.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1288,
"cds_start": null,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000618853.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017570.5"
},
{
"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": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3721-11delC",
"hgvs_p": null,
"transcript": "ENST00000618853.5",
"protein_id": "ENSP00000480476.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1288,
"cds_start": null,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017570.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618853.5"
},
{
"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": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3751-11delC",
"hgvs_p": null,
"transcript": "ENST00000894965.1",
"protein_id": "ENSP00000565024.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1298,
"cds_start": null,
"cds_end": null,
"cds_length": 3897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894965.1"
},
{
"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": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3745-11delC",
"hgvs_p": null,
"transcript": "ENST00000919620.1",
"protein_id": "ENSP00000589679.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1296,
"cds_start": null,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919620.1"
},
{
"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": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3721-11delC",
"hgvs_p": null,
"transcript": "ENST00000894953.1",
"protein_id": "ENSP00000565012.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1288,
"cds_start": null,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894953.1"
},
{
"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": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3721-11delC",
"hgvs_p": null,
"transcript": "ENST00000894954.1",
"protein_id": "ENSP00000565013.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1288,
"cds_start": null,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894954.1"
},
{
"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": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3721-11delC",
"hgvs_p": null,
"transcript": "ENST00000894955.1",
"protein_id": "ENSP00000565014.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1288,
"cds_start": null,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894955.1"
},
{
"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": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3721-11delC",
"hgvs_p": null,
"transcript": "ENST00000894956.1",
"protein_id": "ENSP00000565015.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1288,
"cds_start": null,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894956.1"
},
{
"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": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3721-11delC",
"hgvs_p": null,
"transcript": "ENST00000894957.1",
"protein_id": "ENSP00000565016.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1288,
"cds_start": null,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894957.1"
},
{
"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": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3721-11delC",
"hgvs_p": null,
"transcript": "ENST00000894958.1",
"protein_id": "ENSP00000565017.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1288,
"cds_start": null,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894958.1"
},
{
"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": 28,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3721-11delC",
"hgvs_p": null,
"transcript": "ENST00000894959.1",
"protein_id": "ENSP00000565018.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1288,
"cds_start": null,
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"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894959.1"
},
{
"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": 25,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3721-11delC",
"hgvs_p": null,
"transcript": "ENST00000894960.1",
"protein_id": "ENSP00000565019.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1288,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894960.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3721-11delC",
"hgvs_p": null,
"transcript": "ENST00000894961.1",
"protein_id": "ENSP00000565020.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1288,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894961.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3721-11delC",
"hgvs_p": null,
"transcript": "ENST00000971668.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000971668.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3721-11delC",
"hgvs_p": null,
"transcript": "ENST00000971669.1",
"protein_id": "ENSP00000641728.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1288,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971669.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3721-11delC",
"hgvs_p": null,
"transcript": "ENST00000971670.1",
"protein_id": "ENSP00000641729.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971670.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3721-11delC",
"hgvs_p": null,
"transcript": "ENST00000971671.1",
"protein_id": "ENSP00000641730.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971671.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3721-11delC",
"hgvs_p": null,
"transcript": "ENST00000971672.1",
"protein_id": "ENSP00000641731.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000971672.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3721-11delC",
"hgvs_p": null,
"transcript": "ENST00000971674.1",
"protein_id": "ENSP00000641733.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3721-11delC",
"hgvs_p": null,
"transcript": "ENST00000971676.1",
"protein_id": "ENSP00000641735.1",
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"biotype": "protein_coding",
"feature": "ENST00000971676.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3721-11delC",
"hgvs_p": null,
"transcript": "ENST00000971678.1",
"protein_id": "ENSP00000641737.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971678.1"
},
{
"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": 28,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "OPLAH",
"gene_hgnc_id": 8149,
"hgvs_c": "c.3721-11delC",
"hgvs_p": null,
"transcript": "ENST00000971679.1",
"protein_id": "ENSP00000641738.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1288,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971679.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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{
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{
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{
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{
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],
"gene_symbol": "OPLAH",
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"dbsnp": "rs782568024",
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"hom_count_reference_population": 8,
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"computational_score_selected": null,
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"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
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"alphamissense_score": null,
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"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -1.226,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": -10,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_017570.5",
"gene_symbol": "OPLAH",
"hgnc_id": 8149,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3721-11delC",
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},
{
"score": -6,
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"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000686861.2",
"gene_symbol": "ENSG00000293498",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.719delG",
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}
],
"clinvar_disease": "5-Oxoprolinase deficiency",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "5-Oxoprolinase deficiency",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}