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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: 20-37181577-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=37181577&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 37181577,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001324301.2",
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.13+2208G>A",
"hgvs_p": null,
"transcript": "NM_002951.5",
"protein_id": "NP_002942.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": null,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000237530.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002951.5"
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.13+2208G>A",
"hgvs_p": null,
"transcript": "ENST00000237530.11",
"protein_id": "ENSP00000237530.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": null,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002951.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000237530.11"
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.13+2208G>A",
"hgvs_p": null,
"transcript": "NM_001324301.2",
"protein_id": "NP_001311230.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 663,
"cds_start": null,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324301.2"
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.13+2208G>A",
"hgvs_p": null,
"transcript": "ENST00000705448.1",
"protein_id": "ENSP00000516126.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": null,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000705448.1"
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.13+2208G>A",
"hgvs_p": null,
"transcript": "ENST00000892636.1",
"protein_id": "ENSP00000562695.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": null,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892636.1"
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.13+2208G>A",
"hgvs_p": null,
"transcript": "NM_001324304.2",
"protein_id": "NP_001311233.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 647,
"cds_start": null,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324304.2"
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.13+2208G>A",
"hgvs_p": null,
"transcript": "NM_001324305.2",
"protein_id": "NP_001311234.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 647,
"cds_start": null,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324305.2"
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.13+2208G>A",
"hgvs_p": null,
"transcript": "ENST00000892620.1",
"protein_id": "ENSP00000562679.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 647,
"cds_start": null,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892620.1"
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.13+2208G>A",
"hgvs_p": null,
"transcript": "ENST00000892624.1",
"protein_id": "ENSP00000562683.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 645,
"cds_start": null,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892624.1"
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.13+2208G>A",
"hgvs_p": null,
"transcript": "ENST00000892635.1",
"protein_id": "ENSP00000562694.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 645,
"cds_start": null,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892635.1"
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.13+2208G>A",
"hgvs_p": null,
"transcript": "ENST00000892634.1",
"protein_id": "ENSP00000562693.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 641,
"cds_start": null,
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"cds_length": 1926,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892634.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.13+2208G>A",
"hgvs_p": null,
"transcript": "ENST00000892639.1",
"protein_id": "ENSP00000562698.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 639,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892639.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.13+2208G>A",
"hgvs_p": null,
"transcript": "ENST00000892640.1",
"protein_id": "ENSP00000562699.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000892640.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 1,
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"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.13+2208G>A",
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"transcript": "NM_001324303.2",
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"biotype": "protein_coding",
"feature": "NM_001324303.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.13+2208G>A",
"hgvs_p": null,
"transcript": "ENST00000892623.1",
"protein_id": "ENSP00000562682.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892623.1"
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 1,
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"gene_symbol": "RPN2",
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"hgvs_c": "c.13+2208G>A",
"hgvs_p": null,
"transcript": "ENST00000892626.1",
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"feature": "ENST00000892626.1"
},
{
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"canonical": false,
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.13+2208G>A",
"hgvs_p": null,
"transcript": "ENST00000947425.1",
"protein_id": "ENSP00000617484.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000947425.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.13+2208G>A",
"hgvs_p": null,
"transcript": "ENST00000892628.1",
"protein_id": "ENSP00000562687.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 625,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"feature": "ENST00000892628.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.13+2208G>A",
"hgvs_p": null,
"transcript": "ENST00000892621.1",
"protein_id": "ENSP00000562680.1",
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},
{
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"protein_coding": true,
"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.13+2208G>A",
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"transcript": "ENST00000892629.1",
"protein_id": "ENSP00000562688.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 1,
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"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.13+2208G>A",
"hgvs_p": null,
"transcript": "NM_001135771.3",
"protein_id": "NP_001129243.1",
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"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135771.3"
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"hgvs_c": "c.13+2208G>A",
"hgvs_p": null,
"transcript": "NM_001324299.2",
"protein_id": "NP_001311228.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 615,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324299.2"
},
{
"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": 17,
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"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000462163.1"
}
],
"gene_symbol": "RPN2",
"gene_hgnc_id": 10382,
"dbsnp": "rs6017447",
"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": -1.0099999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1.01,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.007,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001324301.2",
"gene_symbol": "RPN2",
"hgnc_id": 10382,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.13+2208G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}