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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: 3-98264607-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=98264607&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 98264607,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001005479.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR5H6",
"gene_hgnc_id": 14767,
"hgvs_c": "c.275T>C",
"hgvs_p": "p.Ile92Thr",
"transcript": "NM_001005479.2",
"protein_id": "NP_001005479.2",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 309,
"cds_start": 275,
"cds_end": null,
"cds_length": 930,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 1113,
"mane_select": "ENST00000615035.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005479.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR5H6",
"gene_hgnc_id": 14767,
"hgvs_c": "c.275T>C",
"hgvs_p": "p.Ile92Thr",
"transcript": "ENST00000615035.3",
"protein_id": "ENSP00000480705.3",
"transcript_support_level": 6,
"aa_start": 92,
"aa_end": null,
"aa_length": 309,
"cds_start": 275,
"cds_end": null,
"cds_length": 930,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 1113,
"mane_select": "NM_001005479.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615035.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000251088",
"gene_hgnc_id": null,
"hgvs_c": "n.26+30931T>C",
"hgvs_p": null,
"transcript": "ENST00000508616.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 392,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000508616.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR5H6",
"gene_hgnc_id": 14767,
"hgvs_c": "c.323T>C",
"hgvs_p": "p.Ile108Thr",
"transcript": "ENST00000642105.1",
"protein_id": "ENSP00000493340.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 325,
"cds_start": 323,
"cds_end": null,
"cds_length": 978,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642105.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR5H6",
"gene_hgnc_id": 14767,
"hgvs_c": "c.275T>C",
"hgvs_p": "p.Ile92Thr",
"transcript": "ENST00000641416.1",
"protein_id": "ENSP00000492964.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 309,
"cds_start": 275,
"cds_end": null,
"cds_length": 930,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 1032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000641416.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289509",
"gene_hgnc_id": null,
"hgvs_c": "n.187-1465A>G",
"hgvs_p": null,
"transcript": "ENST00000688712.2",
"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": 615,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000688712.2"
},
{
"aa_ref": null,
"aa_alt": null,
"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": "ENSG00000289509",
"gene_hgnc_id": null,
"hgvs_c": "n.183-1465A>G",
"hgvs_p": null,
"transcript": "ENST00000689242.2",
"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": 611,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000689242.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289509",
"gene_hgnc_id": null,
"hgvs_c": "n.665-1465A>G",
"hgvs_p": null,
"transcript": "ENST00000692007.2",
"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": 1106,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000692007.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"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": "ENSG00000289509",
"gene_hgnc_id": null,
"hgvs_c": "n.594-1465A>G",
"hgvs_p": null,
"transcript": "ENST00000775911.1",
"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": 1022,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000775911.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"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": "ENSG00000289509",
"gene_hgnc_id": null,
"hgvs_c": "n.634-1465A>G",
"hgvs_p": null,
"transcript": "ENST00000775912.1",
"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": 1059,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000775912.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"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": "ENSG00000289509",
"gene_hgnc_id": null,
"hgvs_c": "n.242-1465A>G",
"hgvs_p": null,
"transcript": "ENST00000775913.1",
"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": 670,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000775913.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"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": "ENSG00000289509",
"gene_hgnc_id": null,
"hgvs_c": "n.243-1465A>G",
"hgvs_p": null,
"transcript": "ENST00000775914.1",
"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": 671,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000775914.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"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": "ENSG00000289509",
"gene_hgnc_id": null,
"hgvs_c": "n.181-1465A>G",
"hgvs_p": null,
"transcript": "ENST00000775915.1",
"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": 606,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000775915.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"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": "ENSG00000289509",
"gene_hgnc_id": null,
"hgvs_c": "n.631+493A>G",
"hgvs_p": null,
"transcript": "ENST00000775916.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000775916.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289509",
"gene_hgnc_id": null,
"hgvs_c": "n.340-1465A>G",
"hgvs_p": null,
"transcript": "ENST00000775917.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 765,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000775917.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"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": "ENSG00000289509",
"gene_hgnc_id": null,
"hgvs_c": "n.672-1465A>G",
"hgvs_p": null,
"transcript": "ENST00000775918.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000775918.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289509",
"gene_hgnc_id": null,
"hgvs_c": "n.240-1465A>G",
"hgvs_p": null,
"transcript": "ENST00000775919.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 665,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000775919.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289509",
"gene_hgnc_id": null,
"hgvs_c": "n.177-1465A>G",
"hgvs_p": null,
"transcript": "ENST00000775920.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 602,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000775920.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289509",
"gene_hgnc_id": null,
"hgvs_c": "n.556-1465A>G",
"hgvs_p": null,
"transcript": "ENST00000775921.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000775921.1"
},
{
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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": "ENSG00000289509",
"gene_hgnc_id": null,
"hgvs_c": "n.91-1465A>G",
"hgvs_p": null,
"transcript": "ENST00000775922.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000775922.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289509",
"gene_hgnc_id": null,
"hgvs_c": "n.180-1465A>G",
"hgvs_p": null,
"transcript": "ENST00000775923.1",
"protein_id": null,
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"cdna_length": 605,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000775923.1"
},
{
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"aa_alt": null,
"canonical": false,
"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": "ENSG00000289509",
"gene_hgnc_id": null,
"hgvs_c": "n.280-1465A>G",
"hgvs_p": null,
"transcript": "ENST00000775924.1",
"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": 705,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000775924.1"
},
{
"aa_ref": null,
"aa_alt": null,
"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": "ENSG00000289509",
"gene_hgnc_id": null,
"hgvs_c": "n.446-1465A>G",
"hgvs_p": null,
"transcript": "ENST00000775925.1",
"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": 871,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000775925.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"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": "LOC105373999",
"gene_hgnc_id": null,
"hgvs_c": "n.536-1465A>G",
"hgvs_p": null,
"transcript": "XR_001740814.2",
"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": 961,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001740814.2"
}
],
"gene_symbol": "OR5H6",
"gene_hgnc_id": 14767,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3063073754310608,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.149,
"revel_prediction": "Benign",
"alphamissense_score": 0.3922,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.879,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.12,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001005479.2",
"gene_symbol": "OR5H6",
"hgnc_id": 14767,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.275T>C",
"hgvs_p": "p.Ile92Thr"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000508616.1",
"gene_symbol": "ENSG00000251088",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.26+30931T>C",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000688712.2",
"gene_symbol": "ENSG00000289509",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.187-1465A>G",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001740814.2",
"gene_symbol": "LOC105373999",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.536-1465A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}