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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: 11-66744924-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66744924&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 66744924,
"ref": "T",
"alt": "C",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_024650.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.-30+5T>C",
"hgvs_p": null,
"transcript": "NM_001302084.2",
"protein_id": "NP_001289013.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 511,
"cds_start": null,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1998,
"mane_select": "ENST00000540737.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302084.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.-30+5T>C",
"hgvs_p": null,
"transcript": "ENST00000540737.7",
"protein_id": "ENSP00000444319.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 511,
"cds_start": null,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1998,
"mane_select": "NM_001302084.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540737.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.-307T>C",
"hgvs_p": null,
"transcript": "ENST00000901167.1",
"protein_id": "ENSP00000571226.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 512,
"cds_start": null,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901167.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.-126T>C",
"hgvs_p": null,
"transcript": "ENST00000901168.1",
"protein_id": "ENSP00000571227.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 512,
"cds_start": null,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1819,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901168.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.-371T>C",
"hgvs_p": null,
"transcript": "ENST00000901178.1",
"protein_id": "ENSP00000571237.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 512,
"cds_start": null,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2037,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901178.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.-279T>C",
"hgvs_p": null,
"transcript": "ENST00000901180.1",
"protein_id": "ENSP00000571239.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 512,
"cds_start": null,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901180.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.-265T>C",
"hgvs_p": null,
"transcript": "ENST00000901171.1",
"protein_id": "ENSP00000571230.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 511,
"cds_start": null,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901171.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.-139T>C",
"hgvs_p": null,
"transcript": "ENST00000901175.1",
"protein_id": "ENSP00000571234.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 511,
"cds_start": null,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1809,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901175.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.-385T>C",
"hgvs_p": null,
"transcript": "ENST00000901176.1",
"protein_id": "ENSP00000571235.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 511,
"cds_start": null,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2055,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901176.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.-265T>C",
"hgvs_p": null,
"transcript": "ENST00000901177.1",
"protein_id": "ENSP00000571236.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 511,
"cds_start": null,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901177.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.-126T>C",
"hgvs_p": null,
"transcript": "ENST00000901181.1",
"protein_id": "ENSP00000571240.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 511,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 1729,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901181.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.-418T>C",
"hgvs_p": null,
"transcript": "ENST00000945064.1",
"protein_id": "ENSP00000615123.1",
"transcript_support_level": null,
"aa_start": 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": "ENST00000945064.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.-265T>C",
"hgvs_p": null,
"transcript": "ENST00000901174.1",
"protein_id": "ENSP00000571233.1",
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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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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000901174.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
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"5_prime_UTR_variant"
],
"exon_rank": 1,
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"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.-472T>C",
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"transcript": "ENST00000901170.1",
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"biotype": "protein_coding",
"feature": "ENST00000901170.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.-418T>C",
"hgvs_p": null,
"transcript": "ENST00000901179.1",
"protein_id": "ENSP00000571238.1",
"transcript_support_level": null,
"aa_start": null,
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"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": "ENST00000901179.1"
},
{
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"protein_coding": true,
"strand": true,
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"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "TOP6BL",
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"hgvs_c": "c.-265T>C",
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"transcript": "ENST00000945072.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000945072.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.-383T>C",
"hgvs_p": null,
"transcript": "ENST00000945073.1",
"protein_id": "ENSP00000615132.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": 1982,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000945073.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.30+5T>C",
"hgvs_p": null,
"transcript": "NM_024650.4",
"protein_id": "NP_078926.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 628,
"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": "NM_024650.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.30+5T>C",
"hgvs_p": null,
"transcript": "ENST00000525908.6",
"protein_id": "ENSP00000432039.3",
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"feature": "ENST00000525908.6"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.-30+5T>C",
"hgvs_p": null,
"transcript": "ENST00000901160.1",
"protein_id": "ENSP00000571219.1",
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"biotype": "protein_coding",
"feature": "ENST00000901160.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.30+5T>C",
"hgvs_p": null,
"transcript": "ENST00000642265.1",
"protein_id": "ENSP00000494645.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642265.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TOP6BL",
"gene_hgnc_id": 26197,
"hgvs_c": "c.-30+5T>C",
"hgvs_p": null,
"transcript": "ENST00000901173.1",
"protein_id": "ENSP00000571232.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 541,
"cds_start": null,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901173.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
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"bayesdelnoaf_score": -0.5,
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BP6",
"BS1",
"BS2"
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"verdict": "Benign",
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{
"score": -13,
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"BS1",
"BS2"
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"verdict": "Benign",
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],
"clinvar_disease": "TOP6BL-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "TOP6BL-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}