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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: 2-166015724-GTT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=166015724&ref=GTT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 166015724,
"ref": "GTT",
"alt": "G",
"effect": "frameshift_variant,splice_region_variant",
"transcript": "ENST00000674923.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.3431_3432delAA",
"hgvs_p": "p.Lys1144fs",
"transcript": "NM_001165963.4",
"protein_id": "NP_001159435.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 2009,
"cds_start": 3431,
"cds_end": null,
"cds_length": 6030,
"cdna_start": 3910,
"cdna_end": null,
"cdna_length": 11940,
"mane_select": "ENST00000674923.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.3431_3432delAA",
"hgvs_p": "p.Lys1144fs",
"transcript": "ENST00000674923.1",
"protein_id": "ENSP00000501589.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 2009,
"cds_start": 3431,
"cds_end": null,
"cds_length": 6030,
"cdna_start": 3910,
"cdna_end": null,
"cdna_length": 11940,
"mane_select": "NM_001165963.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.3431_3432delAA",
"hgvs_p": "p.Lys1144fs",
"transcript": "ENST00000303395.9",
"protein_id": "ENSP00000303540.4",
"transcript_support_level": 5,
"aa_start": 1144,
"aa_end": null,
"aa_length": 2009,
"cds_start": 3431,
"cds_end": null,
"cds_length": 6030,
"cdna_start": 3823,
"cdna_end": null,
"cdna_length": 11853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.3398_3399delAA",
"hgvs_p": "p.Lys1133fs",
"transcript": "ENST00000375405.7",
"protein_id": "ENSP00000364554.3",
"transcript_support_level": 5,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1998,
"cds_start": 3398,
"cds_end": null,
"cds_length": 5997,
"cdna_start": 3417,
"cdna_end": null,
"cdna_length": 8097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.3347_3348delAA",
"hgvs_p": "p.Lys1116fs",
"transcript": "ENST00000409050.2",
"protein_id": "ENSP00000386312.1",
"transcript_support_level": 5,
"aa_start": 1116,
"aa_end": null,
"aa_length": 1981,
"cds_start": 3347,
"cds_end": null,
"cds_length": 5946,
"cdna_start": 3633,
"cdna_end": null,
"cdna_length": 7376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.3431_3432delAA",
"hgvs_p": "p.Lys1144fs",
"transcript": "NM_001202435.3",
"protein_id": "NP_001189364.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 2009,
"cds_start": 3431,
"cds_end": null,
"cds_length": 6030,
"cdna_start": 3688,
"cdna_end": null,
"cdna_length": 12890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.3431_3432delAA",
"hgvs_p": "p.Lys1144fs",
"transcript": "NM_001353948.2",
"protein_id": "NP_001340877.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 2009,
"cds_start": 3431,
"cds_end": null,
"cds_length": 6030,
"cdna_start": 3731,
"cdna_end": null,
"cdna_length": 12933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.3398_3399delAA",
"hgvs_p": "p.Lys1133fs",
"transcript": "NM_001353949.2",
"protein_id": "NP_001340878.1",
"transcript_support_level": null,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1998,
"cds_start": 3398,
"cds_end": null,
"cds_length": 5997,
"cdna_start": 3563,
"cdna_end": null,
"cdna_length": 12765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.3398_3399delAA",
"hgvs_p": "p.Lys1133fs",
"transcript": "NM_001353950.2",
"protein_id": "NP_001340879.1",
"transcript_support_level": null,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1998,
"cds_start": 3398,
"cds_end": null,
"cds_length": 5997,
"cdna_start": 3655,
"cdna_end": null,
"cdna_length": 12857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.3398_3399delAA",
"hgvs_p": "p.Lys1133fs",
"transcript": "NM_001353951.2",
"protein_id": "NP_001340880.1",
"transcript_support_level": null,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1998,
"cds_start": 3398,
"cds_end": null,
"cds_length": 5997,
"cdna_start": 3698,
"cdna_end": null,
"cdna_length": 12900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.3398_3399delAA",
"hgvs_p": "p.Lys1133fs",
"transcript": "NM_001353952.2",
"protein_id": "NP_001340881.1",
"transcript_support_level": null,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1998,
"cds_start": 3398,
"cds_end": null,
"cds_length": 5997,
"cdna_start": 3790,
"cdna_end": null,
"cdna_length": 12992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.3398_3399delAA",
"hgvs_p": "p.Lys1133fs",
"transcript": "NM_006920.6",
"protein_id": "NP_008851.3",
"transcript_support_level": null,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1998,
"cds_start": 3398,
"cds_end": null,
"cds_length": 5997,
"cdna_start": 3877,
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"cdna_length": 13079,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.3398_3399delAA",
"hgvs_p": "p.Lys1133fs",
"transcript": "ENST00000635750.1",
"protein_id": "ENSP00000490799.1",
"transcript_support_level": 5,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1998,
"cds_start": 3398,
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"cdna_start": 3616,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.3398_3399delAA",
"hgvs_p": "p.Lys1133fs",
"transcript": "ENST00000637988.1",
"protein_id": "ENSP00000490780.1",
"transcript_support_level": 5,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1998,
"cds_start": 3398,
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"cdna_start": 3879,
"cdna_end": null,
"cdna_length": 8562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.3398_3399delAA",
"hgvs_p": "p.Lys1133fs",
"transcript": "ENST00000640036.1",
"protein_id": "ENSP00000491573.1",
"transcript_support_level": 5,
"aa_start": 1133,
"aa_end": null,
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"cds_start": 3398,
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"cdna_start": 3448,
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"feature": null
},
{
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"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
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"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.3395_3396delAA",
"hgvs_p": "p.Lys1132fs",
"transcript": "NM_001353954.2",
"protein_id": "NP_001340883.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1997,
"cds_start": 3395,
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"cds_length": 5994,
"cdna_start": 3787,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.3395_3396delAA",
"hgvs_p": "p.Lys1132fs",
"transcript": "NM_001353955.2",
"protein_id": "NP_001340884.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1997,
"cds_start": 3395,
"cds_end": null,
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"cdna_start": 3695,
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"cdna_length": 12897,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.3395_3396delAA",
"hgvs_p": "p.Lys1132fs",
"transcript": "ENST00000641575.1",
"protein_id": "ENSP00000492917.1",
"transcript_support_level": null,
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"aa_end": null,
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"cdna_start": 3672,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
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"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.3347_3348delAA",
"hgvs_p": "p.Lys1116fs",
"transcript": "NM_001165964.3",
"protein_id": "NP_001159436.1",
"transcript_support_level": null,
"aa_start": 1116,
"aa_end": null,
"aa_length": 1981,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.3347_3348delAA",
"hgvs_p": "p.Lys1116fs",
"transcript": "NM_001353957.2",
"protein_id": "NP_001340886.1",
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"aa_start": 1116,
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"cdna_start": 3647,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.3347_3348delAA",
"hgvs_p": "p.Lys1116fs",
"transcript": "NM_001353958.2",
"protein_id": "NP_001340887.1",
"transcript_support_level": null,
"aa_start": 1116,
"aa_end": null,
"aa_length": 1981,
"cds_start": 3347,
"cds_end": null,
"cds_length": 5946,
"cdna_start": 3604,
"cdna_end": null,
"cdna_length": 12806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN1A",
"gene_hgnc_id": 10585,
"hgvs_c": "c.3344_3345delAA",
"hgvs_p": "p.Lys1115fs",
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},
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}
],
"gene_symbol": "SCN1A",
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_prediction": null,
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"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 12,
"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000674923.1",
"gene_symbol": "SCN1A",
"hgnc_id": 10585,
"effects": [
"frameshift_variant",
"splice_region_variant"
],
"inheritance_mode": "AD,Unknown",
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},
{
"score": 4,
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"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000597623.4",
"gene_symbol": "SCN1A-AS1",
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"effects": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.315_316delTT",
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},
{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_110598.1",
"gene_symbol": "LOC102724058",
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"effects": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.289_290delTT",
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}
],
"clinvar_disease": "Developmental and epileptic encephalopathy",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Developmental and epileptic encephalopathy",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}