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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: 12-21805211-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=21805211&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 21805211,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005691.4",
"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": 40,
"intron_rank": 39,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4512+787A>G",
"hgvs_p": null,
"transcript": "NM_020297.4",
"protein_id": "NP_064693.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1549,
"cds_start": null,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261200.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020297.4"
},
{
"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": 40,
"intron_rank": 39,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4512+787A>G",
"hgvs_p": null,
"transcript": "ENST00000261200.9",
"protein_id": "ENSP00000261200.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1549,
"cds_start": null,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020297.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261200.9"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4613A>G",
"hgvs_p": "p.Asn1538Ser",
"transcript": "NM_005691.4",
"protein_id": "NP_005682.2",
"transcript_support_level": null,
"aa_start": 1538,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4613,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005691.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4613A>G",
"hgvs_p": "p.Asn1538Ser",
"transcript": "ENST00000261201.10",
"protein_id": "ENSP00000261201.4",
"transcript_support_level": 5,
"aa_start": 1538,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4613,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261201.10"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.3494A>G",
"hgvs_p": "p.Asn1165Ser",
"transcript": "ENST00000544039.5",
"protein_id": "ENSP00000440521.1",
"transcript_support_level": 5,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1176,
"cds_start": 3494,
"cds_end": null,
"cds_length": 3531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544039.5"
},
{
"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": 41,
"intron_rank": 40,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4512+787A>G",
"hgvs_p": null,
"transcript": "NM_001377273.1",
"protein_id": "NP_001364202.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1549,
"cds_start": null,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377273.1"
},
{
"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": 39,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4512+787A>G",
"hgvs_p": null,
"transcript": "ENST00000879186.1",
"protein_id": "ENSP00000549245.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1549,
"cds_start": null,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879186.1"
},
{
"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": 41,
"intron_rank": 40,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4512+787A>G",
"hgvs_p": null,
"transcript": "ENST00000879187.1",
"protein_id": "ENSP00000549246.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1549,
"cds_start": null,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879187.1"
},
{
"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": 39,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4512+787A>G",
"hgvs_p": null,
"transcript": "ENST00000879188.1",
"protein_id": "ENSP00000549247.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1549,
"cds_start": null,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879188.1"
},
{
"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": 40,
"intron_rank": 39,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4512+787A>G",
"hgvs_p": null,
"transcript": "ENST00000879190.1",
"protein_id": "ENSP00000549249.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1549,
"cds_start": null,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879190.1"
},
{
"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": 40,
"intron_rank": 39,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4512+787A>G",
"hgvs_p": null,
"transcript": "ENST00000879191.1",
"protein_id": "ENSP00000549250.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1549,
"cds_start": null,
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"cds_length": 4650,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879191.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 40,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4512+787A>G",
"hgvs_p": null,
"transcript": "ENST00000944975.1",
"protein_id": "ENSP00000615034.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1549,
"cds_start": null,
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"cds_length": 4650,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944975.1"
},
{
"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": 39,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4509+787A>G",
"hgvs_p": null,
"transcript": "ENST00000944976.1",
"protein_id": "ENSP00000615035.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1548,
"cds_start": null,
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"cds_length": 4647,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944976.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 38,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4473+787A>G",
"hgvs_p": null,
"transcript": "ENST00000879185.1",
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879185.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4473+787A>G",
"hgvs_p": null,
"transcript": "ENST00000879189.1",
"protein_id": "ENSP00000549248.1",
"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": "ENST00000879189.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 40,
"intron_rank": 39,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
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"hgvs_c": "c.4473+787A>G",
"hgvs_p": null,
"transcript": "ENST00000879192.1",
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"biotype": "protein_coding",
"feature": "ENST00000879192.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4470+787A>G",
"hgvs_p": null,
"transcript": "ENST00000944977.1",
"protein_id": "ENSP00000615036.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1535,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944977.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 39,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4461+787A>G",
"hgvs_p": null,
"transcript": "ENST00000684084.1",
"protein_id": "ENSP00000507859.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1532,
"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000684084.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 38,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4422+787A>G",
"hgvs_p": null,
"transcript": "ENST00000879193.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4371+787A>G",
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"transcript": "ENST00000944978.1",
"protein_id": "ENSP00000615037.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.4212-6073A>G",
"hgvs_p": null,
"transcript": "ENST00000683676.1",
"protein_id": "ENSP00000508167.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1480,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683676.1"
},
{
"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": 38,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.3645+787A>G",
"hgvs_p": null,
"transcript": "NM_001377274.1",
"protein_id": "NP_001364203.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1260,
"cds_start": null,
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"cds_length": 3783,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377274.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"computational_score_selected": 0.26760298013687134,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.319,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0772,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.612,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -1,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -1,
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"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_005691.4",
"gene_symbol": "ABCC9",
"hgnc_id": 60,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD,AR",
"hgvs_c": "c.4613A>G",
"hgvs_p": "p.Asn1538Ser"
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{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
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}
],
"clinvar_disease": "Dilated cardiomyopathy 1O,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|not provided|Dilated cardiomyopathy 1O",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}