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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: 1-1435798-T-TGGCGCGGAGCGGCGCGGAGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1435798&ref=T&alt=TGGCGCGGAGCGGCGCGGAGC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 1435798,
"ref": "T",
"alt": "TGGCGCGGAGCGGCGCGGAGC",
"effect": "frameshift_variant,splice_region_variant",
"transcript": "NM_022834.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "RRGAARS?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA1",
"gene_hgnc_id": 30910,
"hgvs_c": "c.52_71dupGCGCGGAGCGGCGCGGAGCG",
"hgvs_p": "p.Gly25fs",
"transcript": "NM_022834.5",
"protein_id": "NP_073745.2",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 445,
"cds_start": 72,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000476993.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022834.5"
},
{
"aa_ref": "R",
"aa_alt": "RRGAARS?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA1",
"gene_hgnc_id": 30910,
"hgvs_c": "c.52_71dupGCGCGGAGCGGCGCGGAGCG",
"hgvs_p": "p.Gly25fs",
"transcript": "ENST00000476993.2",
"protein_id": "ENSP00000417185.1",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 445,
"cds_start": 72,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022834.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476993.2"
},
{
"aa_ref": "R",
"aa_alt": "RRGAARS?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA1",
"gene_hgnc_id": 30910,
"hgvs_c": "c.52_71dupGCGCGGAGCGGCGCGGAGCG",
"hgvs_p": "p.Ala25fs",
"transcript": "ENST00000895635.1",
"protein_id": "ENSP00000565694.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 442,
"cds_start": 72,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895635.1"
},
{
"aa_ref": "R",
"aa_alt": "RRGAARS?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA1",
"gene_hgnc_id": 30910,
"hgvs_c": "c.52_71dupGCGCGGAGCGGCGCGGAGCG",
"hgvs_p": "p.Asp25fs",
"transcript": "ENST00000895634.1",
"protein_id": "ENSP00000565693.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 259,
"cds_start": 72,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895634.1"
},
{
"aa_ref": "R",
"aa_alt": "RRGAARS?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA1",
"gene_hgnc_id": 30910,
"hgvs_c": "c.52_71dupGCGCGGAGCGGCGCGGAGCG",
"hgvs_p": "p.Gly25fs",
"transcript": "ENST00000471398.1",
"protein_id": "ENSP00000464343.1",
"transcript_support_level": 3,
"aa_start": 24,
"aa_end": null,
"aa_length": 147,
"cds_start": 72,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471398.1"
},
{
"aa_ref": "R",
"aa_alt": "RRGAARS?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA1",
"gene_hgnc_id": 30910,
"hgvs_c": "c.52_71dupGCGCGGAGCGGCGCGGAGCG",
"hgvs_p": "p.Gly25fs",
"transcript": "NM_199121.3",
"protein_id": "NP_954572.2",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 64,
"cds_start": 72,
"cds_end": null,
"cds_length": 195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199121.3"
},
{
"aa_ref": "R",
"aa_alt": "RRGAARS?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA1",
"gene_hgnc_id": 30910,
"hgvs_c": "c.52_71dupGCGCGGAGCGGCGCGGAGCG",
"hgvs_p": "p.Gly25fs",
"transcript": "ENST00000338660.5",
"protein_id": "ENSP00000423404.1",
"transcript_support_level": 2,
"aa_start": 24,
"aa_end": null,
"aa_length": 64,
"cds_start": 72,
"cds_end": null,
"cds_length": 195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338660.5"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VWA1",
"gene_hgnc_id": 30910,
"hgvs_c": "c.-33+654_-33+673dupGCGCGGAGCGGCGCGGAGCG",
"hgvs_p": null,
"transcript": "ENST00000495558.1",
"protein_id": "ENSP00000463643.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 166,
"cds_start": null,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000495558.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC107985729",
"gene_hgnc_id": null,
"hgvs_c": "c.*648_*649insGGCGCGGAGCGGCGCGGAGC",
"hgvs_p": null,
"transcript": "XM_017003066.2",
"protein_id": "XP_016858555.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": null,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003066.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINC01770",
"gene_hgnc_id": 52560,
"hgvs_c": "n.-203_-184dupGCTCCGCGCCGCTCCGCGCC",
"hgvs_p": null,
"transcript": "ENST00000417917.2",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000417917.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "LINC01770",
"gene_hgnc_id": 52560,
"hgvs_c": "n.-225_-206dupGCTCCGCGCCGCTCCGCGCC",
"hgvs_p": null,
"transcript": "ENST00000430109.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "pseudogene",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINC01770",
"gene_hgnc_id": 52560,
"hgvs_c": "n.-199_-180dupGCTCCGCGCCGCTCCGCGCC",
"hgvs_p": null,
"transcript": "ENST00000454562.2",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "LINC01770",
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"hgvs_c": "n.-212_-193dupGCTCCGCGCCGCTCCGCGCC",
"hgvs_p": null,
"transcript": "ENST00000729980.1",
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},
{
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"upstream_gene_variant"
],
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"gene_symbol": "LINC01770",
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"transcript": "ENST00000729981.1",
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},
{
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"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "LINC01770",
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"hgvs_c": "n.-200_-181dupGCTCCGCGCCGCTCCGCGCC",
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},
{
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],
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"transcript": "ENST00000729983.1",
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},
{
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],
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"gene_symbol": "LINC01770",
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"hgvs_p": 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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],
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "LINC01770",
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"hgvs_c": "n.-223_-204dupGCTCCGCGCCGCTCCGCGCC",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"gene_symbol": "LINC01770",
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"hgvs_c": "n.-248_-229dupGCTCCGCGCCGCTCCGCGCC",
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"biotype": "pseudogene",
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{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "LINC01770",
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"transcript": "ENST00000729990.1",
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"biotype": "pseudogene",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
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"gene_symbol": "LINC01770",
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"biotype": "pseudogene",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "LINC01770",
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"hgvs_c": "n.-248_-229dupGCTCCGCGCCGCTCCGCGCC",
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"transcript": "ENST00000729992.1",
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"aa_end": null,
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"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000729992.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINC01770",
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"hgvs_c": "n.-256_-237dupGCTCCGCGCCGCTCCGCGCC",
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"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000729993.1"
}
],
"gene_symbol": "VWA1",
"gene_hgnc_id": 30910,
"dbsnp": "rs749383814",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 9.49716e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.706,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Strong,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PVS1_Strong",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022834.5",
"gene_symbol": "VWA1",
"hgnc_id": 30910,
"effects": [
"frameshift_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.52_71dupGCGCGGAGCGGCGCGGAGCG",
"hgvs_p": "p.Gly25fs"
},
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000417917.2",
"gene_symbol": "LINC01770",
"hgnc_id": 52560,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-203_-184dupGCTCCGCGCCGCTCCGCGCC",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "XM_017003066.2",
"gene_symbol": "LOC107985729",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*648_*649insGGCGCGGAGCGGCGCGGAGC",
"hgvs_p": null
}
],
"clinvar_disease": "VWA1-related disorder",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "VWA1-related disorder",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}