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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: 9-36846831-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=36846831&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 36846831,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000358127.9",
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.1099+12C>T",
"hgvs_p": null,
"transcript": "NM_016734.3",
"protein_id": "NP_057953.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": -4,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8704,
"mane_select": "ENST00000358127.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.1099+12C>T",
"hgvs_p": null,
"transcript": "ENST00000358127.9",
"protein_id": "ENSP00000350844.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": -4,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8704,
"mane_select": "NM_016734.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.1013-6195C>T",
"hgvs_p": null,
"transcript": "ENST00000377853.6",
"protein_id": "ENSP00000367084.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": -4,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.997+12C>T",
"hgvs_p": null,
"transcript": "ENST00000377852.7",
"protein_id": "ENSP00000367083.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 357,
"cds_start": -4,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.970+12C>T",
"hgvs_p": null,
"transcript": "ENST00000414447.5",
"protein_id": "ENSP00000412188.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 348,
"cds_start": -4,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.911-6195C>T",
"hgvs_p": null,
"transcript": "ENST00000377847.6",
"protein_id": "ENSP00000367078.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": -4,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.867+12C>T",
"hgvs_p": null,
"transcript": "ENST00000523241.6",
"protein_id": "ENSP00000429637.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": -4,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.884-6195C>T",
"hgvs_p": null,
"transcript": "ENST00000520281.5",
"protein_id": "ENSP00000430773.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 319,
"cds_start": -4,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.781-6195C>T",
"hgvs_p": null,
"transcript": "ENST00000520154.6",
"protein_id": "ENSP00000429291.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 295,
"cds_start": -4,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.799+12C>T",
"hgvs_p": null,
"transcript": "ENST00000446742.5",
"protein_id": "ENSP00000404687.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": -4,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
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"cdna_length": 885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.775+12C>T",
"hgvs_p": null,
"transcript": "ENST00000522003.5",
"protein_id": "ENSP00000429359.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 7,
"intron_rank": 6,
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"gene_symbol": "PAX5",
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"hgvs_c": "c.587-6195C>T",
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"transcript": "ENST00000523145.5",
"protein_id": "ENSP00000429197.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 7,
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"gene_symbol": "PAX5",
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"hgvs_c": "c.580+12C>T",
"hgvs_p": null,
"transcript": "ENST00000524340.5",
"protein_id": "ENSP00000429404.1",
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},
{
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"strand": false,
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],
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"gene_symbol": "PAX5",
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"hgvs_c": "c.104-6195C>T",
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"transcript": "ENST00000522932.1",
"protein_id": "ENSP00000428670.1",
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},
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],
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"hgvs_c": "n.*102+12C>T",
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"transcript": "ENST00000377840.6",
"protein_id": "ENSP00000367071.2",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 9,
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"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "n.*102+12C>T",
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"transcript": "ENST00000523493.5",
"protein_id": "ENSP00000431038.1",
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},
{
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],
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"gene_symbol": "PAX5",
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"hgvs_c": "c.1013-6195C>T",
"hgvs_p": null,
"transcript": "NM_001280548.2",
"protein_id": "NP_001267477.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.997+12C>T",
"hgvs_p": null,
"transcript": "NM_001280547.2",
"protein_id": "NP_001267476.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
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"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.970+12C>T",
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"transcript": "NM_001280554.2",
"protein_id": "NP_001267483.1",
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},
{
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],
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"gene_symbol": "PAX5",
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"transcript": "NM_001280552.2",
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},
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],
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"gene_symbol": "PAX5",
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"transcript": "NM_001280549.2",
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},
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.884-6195C>T",
"hgvs_p": null,
"transcript": "NM_001280553.2",
"protein_id": "NP_001267482.1",
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"aa_start": null,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.781-6195C>T",
"hgvs_p": null,
"transcript": "NM_001280550.2",
"protein_id": "NP_001267479.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 295,
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"mane_select": null,
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},
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"canonical": false,
"protein_coding": true,
"strand": false,
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},
{
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],
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},
{
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],
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"exon_count": 10,
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"gene_symbol": "PAX5",
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"transcript": "ENST00000651550.1",
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},
{
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],
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"gene_symbol": "PAX5",
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},
{
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"intron_variant"
],
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"gene_symbol": "PAX5",
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"transcript": "NR_103999.2",
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},
{
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"intron_variant"
],
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"gene_symbol": "PAX5",
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"hgvs_c": "n.1263+12C>T",
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"transcript": "NR_104000.2",
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"feature": null
}
],
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"dbsnp": "rs199885584",
"frequency_reference_population": 0.00017544319,
"hom_count_reference_population": 0,
"allele_count_reference_population": 282,
"gnomad_exomes_af": 0.000178693,
"gnomad_genomes_af": 0.000144404,
"gnomad_exomes_ac": 260,
"gnomad_genomes_ac": 22,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.365,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000358127.9",
"gene_symbol": "PAX5",
"hgnc_id": 8619,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1099+12C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}