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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: 9-27573523-CGCCCCGGCCCCG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=27573523&ref=CGCCCCGGCCCCG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 27573523,
"ref": "CGCCCCGGCCCCG",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001256054.3",
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C9orf72",
"gene_hgnc_id": 28337,
"hgvs_c": "c.-45+174_-45+185delCGGGGCCGGGGC",
"hgvs_p": null,
"transcript": "ENST00000619707.5",
"protein_id": "ENSP00000482753.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 481,
"cds_start": null,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619707.5"
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C9orf72",
"gene_hgnc_id": 28337,
"hgvs_c": "c.-45+174_-45+185delCGGGGCCGGGGC",
"hgvs_p": null,
"transcript": "ENST00000965249.1",
"protein_id": "ENSP00000635308.1",
"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": "ENST00000965249.1"
},
{
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C9orf72",
"gene_hgnc_id": 28337,
"hgvs_c": "c.-45+174_-45+185delCGGGGCCGGGGC",
"hgvs_p": null,
"transcript": "NM_001256054.3",
"protein_id": "NP_001242983.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 481,
"cds_start": null,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256054.3"
},
{
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C9orf72",
"gene_hgnc_id": 28337,
"hgvs_c": "c.-45+299_-45+310delCGGGGCCGGGGC",
"hgvs_p": null,
"transcript": "ENST00000965246.1",
"protein_id": "ENSP00000635305.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 481,
"cds_start": null,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965246.1"
},
{
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C9orf72",
"gene_hgnc_id": 28337,
"hgvs_c": "c.-45+252_-45+263delCGGGGCCGGGGC",
"hgvs_p": null,
"transcript": "ENST00000965247.1",
"protein_id": "ENSP00000635306.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 481,
"cds_start": null,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965247.1"
},
{
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C9orf72",
"gene_hgnc_id": 28337,
"hgvs_c": "c.-45+189_-45+200delCGGGGCCGGGGC",
"hgvs_p": null,
"transcript": "ENST00000965250.1",
"protein_id": "ENSP00000635309.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 481,
"cds_start": null,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965250.1"
},
{
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C9orf72",
"gene_hgnc_id": 28337,
"hgvs_c": "c.-45+174_-45+185delCGGGGCCGGGGC",
"hgvs_p": null,
"transcript": "ENST00000965248.1",
"protein_id": "ENSP00000635307.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 384,
"cds_start": null,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965248.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "C9orf72",
"gene_hgnc_id": 28337,
"hgvs_c": "c.-170+252_-170+263delCGGGGCCGGGGC",
"hgvs_p": null,
"transcript": "ENST00000647196.1",
"protein_id": "ENSP00000494839.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 373,
"cds_start": null,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647196.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C9orf72",
"gene_hgnc_id": 28337,
"hgvs_c": "c.-45+252_-45+263delCGGGGCCGGGGC",
"hgvs_p": null,
"transcript": "NM_145005.7",
"protein_id": "NP_659442.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 222,
"cds_start": null,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145005.7"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C9orf72",
"gene_hgnc_id": 28337,
"hgvs_c": "c.-45+189_-45+200delCGGGGCCGGGGC",
"hgvs_p": null,
"transcript": "ENST00000379995.1",
"protein_id": "ENSP00000369331.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 222,
"cds_start": null,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379995.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C9orf72",
"gene_hgnc_id": 28337,
"hgvs_c": "c.-45+252_-45+263delCGGGGCCGGGGC",
"hgvs_p": null,
"transcript": "ENST00000379997.7",
"protein_id": "ENSP00000369333.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 222,
"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": "ENST00000379997.7"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9orf72",
"gene_hgnc_id": 28337,
"hgvs_c": "c.-149_-138delCGGGGCCGGGGC",
"hgvs_p": null,
"transcript": "NM_018325.5",
"protein_id": "NP_060795.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 481,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": "ENST00000380003.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018325.5"
},
{
"aa_ref": null,
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"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9orf72",
"gene_hgnc_id": 28337,
"hgvs_c": "c.-149_-138delCGGGGCCGGGGC",
"hgvs_p": null,
"transcript": "ENST00000380003.8",
"protein_id": "ENSP00000369339.3",
"transcript_support_level": 1,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": "NM_018325.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380003.8"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "C9orf72",
"gene_hgnc_id": 28337,
"hgvs_c": "c.-149_-138delCGGGGCCGGGGC",
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"transcript": "ENST00000644136.1",
"protein_id": "ENSP00000494872.1",
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000644136.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9orf72",
"gene_hgnc_id": 28337,
"hgvs_c": "c.-494_-483delCGGGGCCGGGGC",
"hgvs_p": null,
"transcript": "ENST00000874869.1",
"protein_id": "ENSP00000544928.1",
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"feature": "ENST00000874869.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "C9orf72",
"gene_hgnc_id": 28337,
"hgvs_c": "c.-939_-928delCGGGGCCGGGGC",
"hgvs_p": null,
"transcript": "ENST00000874870.1",
"protein_id": "ENSP00000544929.1",
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"biotype": "protein_coding",
"feature": "ENST00000874870.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9orf72",
"gene_hgnc_id": 28337,
"hgvs_c": "c.-814_-803delCGGGGCCGGGGC",
"hgvs_p": null,
"transcript": "ENST00000965252.1",
"protein_id": "ENSP00000635311.1",
"transcript_support_level": null,
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"biotype": "protein_coding",
"feature": "ENST00000965252.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9orf72",
"gene_hgnc_id": 28337,
"hgvs_c": "c.-1059_-1048delCGGGGCCGGGGC",
"hgvs_p": null,
"transcript": "ENST00000965253.1",
"protein_id": "ENSP00000635312.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9orf72",
"gene_hgnc_id": 28337,
"hgvs_c": "c.-2444_-2433delCGGGGCCGGGGC",
"hgvs_p": null,
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"protein_id": "ENSP00000635313.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "C9orf72",
"gene_hgnc_id": 28337,
"hgvs_c": "c.-149_-138delCGGGGCCGGGGC",
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"protein_id": "ENSP00000635310.1",
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"biotype": "protein_coding",
"feature": "ENST00000965251.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9orf72",
"gene_hgnc_id": 28337,
"hgvs_c": "c.-149_-138delCGGGGCCGGGGC",
"hgvs_p": null,
"transcript": "ENST00000874868.1",
"protein_id": "ENSP00000544927.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 384,
"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": "ENST00000874868.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C9orf72",
"gene_hgnc_id": 28337,
"hgvs_c": "c.-1059_-1048delCGGGGCCGGGGC",
"hgvs_p": null,
"transcript": "ENST00000965255.1",
"protein_id": "ENSP00000635314.1",
"transcript_support_level": null,
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"aa_length": 384,
"cds_start": null,
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{
"aa_ref": null,
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"biotype": "pseudogene",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
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"upstream_gene_variant"
],
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"gene_symbol": "C9orf72",
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"transcript": "ENST00000673600.1",
"protein_id": "ENSP00000500650.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000673600.1"
}
],
"gene_symbol": "C9orf72",
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"dbsnp": "rs143561967",
"frequency_reference_population": 0.000042343574,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": 0.0000423436,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"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": 1.101,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001256054.3",
"gene_symbol": "C9orf72",
"hgnc_id": 28337,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-45+174_-45+185delCGGGGCCGGGGC",
"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
}