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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: X-57413512-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=57413512&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 57413512,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_174912.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.997-18406G>A",
"hgvs_p": null,
"transcript": "NM_174912.4",
"protein_id": "NP_777572.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": null,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374900.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174912.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.997-18406G>A",
"hgvs_p": null,
"transcript": "ENST00000374900.5",
"protein_id": "ENSP00000364035.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": null,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_174912.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374900.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.1024-18406G>A",
"hgvs_p": null,
"transcript": "ENST00000886040.1",
"protein_id": "ENSP00000556099.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 541,
"cds_start": null,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886040.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.898-18406G>A",
"hgvs_p": null,
"transcript": "ENST00000972153.1",
"protein_id": "ENSP00000642212.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 499,
"cds_start": null,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972153.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.996+32483G>A",
"hgvs_p": null,
"transcript": "NM_001353840.1",
"protein_id": "NP_001340769.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": null,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353840.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.996+32483G>A",
"hgvs_p": null,
"transcript": "ENST00000886034.1",
"protein_id": "ENSP00000556093.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": null,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886034.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.877-18406G>A",
"hgvs_p": null,
"transcript": "ENST00000886039.1",
"protein_id": "ENSP00000556098.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": null,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886039.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.997-18406G>A",
"hgvs_p": null,
"transcript": "ENST00000886035.1",
"protein_id": "ENSP00000556094.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 467,
"cds_start": null,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886035.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.787-18406G>A",
"hgvs_p": null,
"transcript": "NM_001353841.1",
"protein_id": "NP_001340770.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 462,
"cds_start": null,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353841.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.787-18406G>A",
"hgvs_p": null,
"transcript": "ENST00000886038.1",
"protein_id": "ENSP00000556097.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 462,
"cds_start": null,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886038.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.876+32483G>A",
"hgvs_p": null,
"transcript": "ENST00000928698.1",
"protein_id": "ENSP00000598757.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 452,
"cds_start": null,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928698.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.996+32483G>A",
"hgvs_p": null,
"transcript": "ENST00000886036.1",
"protein_id": "ENSP00000556095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 427,
"cds_start": null,
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"cds_length": 1284,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886036.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.667-18406G>A",
"hgvs_p": null,
"transcript": "ENST00000886037.1",
"protein_id": "ENSP00000556096.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": null,
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"cds_length": 1269,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886037.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.786+32483G>A",
"hgvs_p": null,
"transcript": "ENST00000928697.1",
"protein_id": "ENSP00000598756.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000928697.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.997-18406G>A",
"hgvs_p": null,
"transcript": "XM_017029290.3",
"protein_id": "XP_016884779.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": null,
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"cds_length": 1464,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029290.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.748-18406G>A",
"hgvs_p": null,
"transcript": "XM_005261985.4",
"protein_id": "XP_005262042.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_005261985.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.748-18406G>A",
"hgvs_p": null,
"transcript": "XM_011530767.4",
"protein_id": "XP_011529069.1",
"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,
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"biotype": "protein_coding",
"feature": "XM_011530767.4"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.996+32483G>A",
"hgvs_p": null,
"transcript": "XM_047441860.1",
"protein_id": "XP_047297816.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "XM_047441860.1"
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
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"hgvs_c": "c.786+32483G>A",
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"transcript": "XM_047441861.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
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"hgvs_c": "c.787-18406G>A",
"hgvs_p": null,
"transcript": "XM_017029292.2",
"protein_id": "XP_016884781.1",
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"feature": "XM_017029292.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.786+32483G>A",
"hgvs_p": null,
"transcript": "XM_047441862.1",
"protein_id": "XP_047297818.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 377,
"cds_start": null,
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"cds_length": 1134,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441862.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FAAH2",
"gene_hgnc_id": 26440,
"hgvs_c": "c.996+32483G>A",
"hgvs_p": null,
"transcript": "XM_005261987.5",
"protein_id": "XP_005262044.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
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"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005261987.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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{
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{
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"biotype": "pseudogene",
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],
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"gnomad_genomes_af": 0.33489,
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"gnomad_genomes_ac": 36923,
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"gnomad_genomes_homalt": 5080,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0099999904632568,
"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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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1.01,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.429,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
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"verdict": "Benign",
"transcript": "NM_174912.4",
"gene_symbol": "FAAH2",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.997-18406G>A",
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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
}