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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: 2-135153635-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=135153635&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 135153635,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_012233.3",
"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": 24,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.2062-14T>G",
"hgvs_p": null,
"transcript": "NM_012233.3",
"protein_id": "NP_036365.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 981,
"cds_start": -4,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4891,
"mane_select": "ENST00000264158.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.2062-14T>G",
"hgvs_p": null,
"transcript": "ENST00000264158.13",
"protein_id": "ENSP00000264158.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 981,
"cds_start": -4,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4891,
"mane_select": "NM_012233.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.2062-14T>G",
"hgvs_p": null,
"transcript": "ENST00000442034.5",
"protein_id": "ENSP00000411418.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 988,
"cds_start": -4,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ZRANB3",
"gene_hgnc_id": 25249,
"hgvs_c": "n.2007-641A>C",
"hgvs_p": null,
"transcript": "ENST00000412849.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.5209T>G",
"hgvs_p": null,
"transcript": "ENST00000688088.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.2062-14T>G",
"hgvs_p": null,
"transcript": "NM_001172435.2",
"protein_id": "NP_001165906.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 988,
"cds_start": -4,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4912,
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ZRANB3",
"gene_hgnc_id": 25249,
"hgvs_c": "c.*46-641A>C",
"hgvs_p": null,
"transcript": "ENST00000619650.4",
"protein_id": "ENSP00000480120.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 598,
"cds_start": -4,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.151-14058T>G",
"hgvs_p": null,
"transcript": "ENST00000688182.1",
"protein_id": "ENSP00000509324.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": -4,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.2131-14T>G",
"hgvs_p": null,
"transcript": "ENST00000487003.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.2062-14T>G",
"hgvs_p": null,
"transcript": "ENST00000539493.3",
"protein_id": "ENSP00000444306.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.*1519-14T>G",
"hgvs_p": null,
"transcript": "ENST00000685967.1",
"protein_id": "ENSP00000508423.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
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"hgvs_c": "n.2408-14T>G",
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"transcript": "ENST00000686114.1",
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},
{
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"canonical": false,
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.*2130-14T>G",
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"transcript": "ENST00000687199.1",
"protein_id": "ENSP00000510319.1",
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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": 2,
"intron_rank": 1,
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"gene_symbol": "RAB3GAP1",
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"hgvs_c": "n.1694-14T>G",
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"transcript": "ENST00000687630.1",
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},
{
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"strand": true,
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],
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"intron_rank": 18,
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"gene_symbol": "RAB3GAP1",
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"hgvs_c": "n.2081-14T>G",
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"transcript": "ENST00000689880.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 17,
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"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.*1740-14T>G",
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"transcript": "ENST00000690208.1",
"protein_id": "ENSP00000510746.1",
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},
{
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"strand": true,
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],
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"intron_rank": 18,
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"gene_symbol": "RAB3GAP1",
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"hgvs_c": "n.2081-14T>G",
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"transcript": "ENST00000690785.1",
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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": 23,
"intron_rank": 16,
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"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.*1685-14T>G",
"hgvs_p": null,
"transcript": "ENST00000691339.1",
"protein_id": "ENSP00000509953.1",
"transcript_support_level": null,
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},
{
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"protein_coding": false,
"strand": true,
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],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 19,
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"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.*2161-14T>G",
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"transcript": "ENST00000691478.1",
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],
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"hgvs_c": "n.2062-14T>G",
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},
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"strand": true,
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],
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"intron_rank": 19,
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"gene_symbol": "RAB3GAP1",
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"hgvs_c": "n.*1170-14T>G",
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},
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.*1974-14T>G",
"hgvs_p": null,
"transcript": "ENST00000713849.1",
"protein_id": "ENSP00000519154.1",
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"aa_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.*1527-14T>G",
"hgvs_p": null,
"transcript": "ENST00000713850.1",
"protein_id": "ENSP00000519155.1",
"transcript_support_level": null,
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},
{
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},
{
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],
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"gene_symbol": "RAB3GAP1",
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"transcript": "ENST00000713852.1",
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},
{
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"intron_variant"
],
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"gene_symbol": "RAB3GAP1",
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"transcript": "XM_011510823.4",
"protein_id": "XP_011509125.1",
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},
{
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"intron_variant"
],
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"gene_symbol": "RAB3GAP1",
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"transcript": "XM_011510825.4",
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},
{
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],
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"gene_symbol": "RAB3GAP1",
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"transcript": "XM_047443732.1",
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},
{
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"intron_variant"
],
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"gene_symbol": "RAB3GAP1",
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"transcript": "XR_001738674.3",
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"feature": null
}
],
"gene_symbol": "RAB3GAP1",
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"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": -0.7799999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.052,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_012233.3",
"gene_symbol": "RAB3GAP1",
"hgnc_id": 17063,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2062-14T>G",
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},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000412849.5",
"gene_symbol": "ZRANB3",
"hgnc_id": 25249,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.2007-641A>C",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}