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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: 12-4274153-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=4274153&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 4274153,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001759.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND2",
"gene_hgnc_id": 1583,
"hgvs_c": "c.113T>G",
"hgvs_p": "p.Leu38Arg",
"transcript": "NM_001759.4",
"protein_id": "NP_001750.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 289,
"cds_start": 113,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261254.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001759.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND2",
"gene_hgnc_id": 1583,
"hgvs_c": "c.113T>G",
"hgvs_p": "p.Leu38Arg",
"transcript": "ENST00000261254.8",
"protein_id": "ENSP00000261254.3",
"transcript_support_level": 1,
"aa_start": 38,
"aa_end": null,
"aa_length": 289,
"cds_start": 113,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001759.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261254.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285901",
"gene_hgnc_id": null,
"hgvs_c": "n.113T>G",
"hgvs_p": null,
"transcript": "ENST00000674624.1",
"protein_id": "ENSP00000501898.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000674624.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND2",
"gene_hgnc_id": 1583,
"hgvs_c": "c.113T>G",
"hgvs_p": "p.Leu38Arg",
"transcript": "ENST00000675880.1",
"protein_id": "ENSP00000502508.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 303,
"cds_start": 113,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675880.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND2",
"gene_hgnc_id": 1583,
"hgvs_c": "c.113T>G",
"hgvs_p": "p.Leu38Arg",
"transcript": "ENST00000862874.1",
"protein_id": "ENSP00000532933.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 300,
"cds_start": 113,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862874.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND2",
"gene_hgnc_id": 1583,
"hgvs_c": "c.113T>G",
"hgvs_p": "p.Leu38Arg",
"transcript": "ENST00000676279.1",
"protein_id": "ENSP00000502597.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 289,
"cds_start": 113,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676279.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND2",
"gene_hgnc_id": 1583,
"hgvs_c": "c.113T>G",
"hgvs_p": "p.Leu38Arg",
"transcript": "ENST00000676411.1",
"protein_id": "ENSP00000502654.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 289,
"cds_start": 113,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676411.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND2",
"gene_hgnc_id": 1583,
"hgvs_c": "c.113T>G",
"hgvs_p": "p.Leu38Arg",
"transcript": "ENST00000862873.1",
"protein_id": "ENSP00000532932.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 289,
"cds_start": 113,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862873.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND2",
"gene_hgnc_id": 1583,
"hgvs_c": "c.113T>G",
"hgvs_p": "p.Leu38Arg",
"transcript": "ENST00000929292.1",
"protein_id": "ENSP00000599351.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 289,
"cds_start": 113,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929292.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND2",
"gene_hgnc_id": 1583,
"hgvs_c": "c.113T>G",
"hgvs_p": "p.Leu38Arg",
"transcript": "ENST00000943418.1",
"protein_id": "ENSP00000613477.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 289,
"cds_start": 113,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943418.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND2",
"gene_hgnc_id": 1583,
"hgvs_c": "c.113T>G",
"hgvs_p": "p.Leu38Arg",
"transcript": "ENST00000929293.1",
"protein_id": "ENSP00000599352.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 288,
"cds_start": 113,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929293.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND2",
"gene_hgnc_id": 1583,
"hgvs_c": "c.113T>G",
"hgvs_p": "p.Leu38Arg",
"transcript": "ENST00000929294.1",
"protein_id": "ENSP00000599353.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 288,
"cds_start": 113,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929294.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCND2",
"gene_hgnc_id": 1583,
"hgvs_c": "n.392T>G",
"hgvs_p": null,
"transcript": "ENST00000536537.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"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": "ENST00000536537.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285901",
"gene_hgnc_id": null,
"hgvs_c": "n.113T>G",
"hgvs_p": null,
"transcript": "ENST00000648100.1",
"protein_id": "ENSP00000497536.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000648100.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCND2-AS1",
"gene_hgnc_id": 49398,
"hgvs_c": "n.401+869A>C",
"hgvs_p": null,
"transcript": "ENST00000537370.2",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"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": "ENST00000537370.2"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCND2-AS1",
"gene_hgnc_id": 49398,
"hgvs_c": "n.126+1906A>C",
"hgvs_p": null,
"transcript": "ENST00000539135.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"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": "ENST00000539135.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCND2-AS1",
"gene_hgnc_id": 49398,
"hgvs_c": "n.182+1143A>C",
"hgvs_p": null,
"transcript": "ENST00000646138.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"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": "ENST00000646138.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCND2-AS1",
"gene_hgnc_id": 49398,
"hgvs_c": "n.163+1143A>C",
"hgvs_p": null,
"transcript": "ENST00000646245.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"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": "ENST00000646245.3"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCND2-AS1",
"gene_hgnc_id": 49398,
"hgvs_c": "n.173+1143A>C",
"hgvs_p": null,
"transcript": "ENST00000656828.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"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": "ENST00000656828.2"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCND2-AS1",
"gene_hgnc_id": 49398,
"hgvs_c": "n.203+1906A>C",
"hgvs_p": null,
"transcript": "ENST00000663068.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"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": "ENST00000663068.2"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCND2-AS1",
"gene_hgnc_id": 49398,
"hgvs_c": "n.207+1906A>C",
"hgvs_p": null,
"transcript": "ENST00000752990.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"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": "ENST00000752990.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCND2-AS1",
"gene_hgnc_id": 49398,
"hgvs_c": "n.129+1906A>C",
"hgvs_p": null,
"transcript": "ENST00000752991.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"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": "ENST00000752991.1"
},
{
"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": 3,
"intron_rank": 1,
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"allele_count_reference_population": 0,
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"gnomad_genomes_ac": null,
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"gnomad_mito_heteroplasmic": null,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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{
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"pathogenic_score": 2,
"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001759.4",
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"effects": [
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],
"inheritance_mode": "AD",
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{
"score": 1,
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"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000674624.1",
"gene_symbol": "ENSG00000285901",
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"effects": [
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],
"inheritance_mode": "",
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},
{
"score": 1,
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"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000539135.1",
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"effects": [
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],
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}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}