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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: 3-9944066-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9944066&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 9944066,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000452070.6",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.1213C>G",
"hgvs_p": "p.Gln405Glu",
"transcript": "ENST00000326434.9",
"protein_id": "ENSP00000321856.5",
"transcript_support_level": 1,
"aa_start": 405,
"aa_end": null,
"aa_length": 422,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1297,
"cdna_end": null,
"cdna_length": 1994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.1049-299C>G",
"hgvs_p": null,
"transcript": "NM_001077415.3",
"protein_id": "NP_001070883.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 420,
"cds_start": -4,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2196,
"mane_select": "ENST00000452070.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.1049-299C>G",
"hgvs_p": null,
"transcript": "ENST00000452070.6",
"protein_id": "ENSP00000393643.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 420,
"cds_start": -4,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2196,
"mane_select": "NM_001077415.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.1049-299C>G",
"hgvs_p": null,
"transcript": "ENST00000383811.8",
"protein_id": "ENSP00000373322.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 420,
"cds_start": -4,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288550",
"gene_hgnc_id": null,
"hgvs_c": "n.*697-299C>G",
"hgvs_p": null,
"transcript": "ENST00000683484.1",
"protein_id": "ENSP00000507040.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.1213C>G",
"hgvs_p": "p.Gln405Glu",
"transcript": "ENST00000683835.1",
"protein_id": "ENSP00000508148.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 537,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1795,
"cdna_end": null,
"cdna_length": 3135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.1270C>G",
"hgvs_p": "p.Gln424Glu",
"transcript": "ENST00000683982.1",
"protein_id": "ENSP00000507437.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 441,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1381,
"cdna_end": null,
"cdna_length": 2078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.1225C>G",
"hgvs_p": "p.Gln409Glu",
"transcript": "NM_001374317.1",
"protein_id": "NP_001361246.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 426,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1331,
"cdna_end": null,
"cdna_length": 2402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.1225C>G",
"hgvs_p": "p.Gln409Glu",
"transcript": "NM_001374318.1",
"protein_id": "NP_001361247.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 426,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1613,
"cdna_end": null,
"cdna_length": 2684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.1225C>G",
"hgvs_p": "p.Gln409Glu",
"transcript": "ENST00000684181.1",
"protein_id": "ENSP00000507522.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 426,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1830,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.1213C>G",
"hgvs_p": "p.Gln405Glu",
"transcript": "NM_001031717.4",
"protein_id": "NP_001026887.2",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 422,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 2390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.1129C>G",
"hgvs_p": "p.Gln377Glu",
"transcript": "ENST00000683189.1",
"protein_id": "ENSP00000508018.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 394,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1734,
"cdna_end": null,
"cdna_length": 2370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.1225C>G",
"hgvs_p": "p.Gln409Glu",
"transcript": "XM_011534108.2",
"protein_id": "XP_011532410.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 426,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1263,
"cdna_end": null,
"cdna_length": 2334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "c.1213C>G",
"hgvs_p": "p.Gln405Glu",
"transcript": "XM_047448898.1",
"protein_id": "XP_047304854.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 422,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 2322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "n.1913C>G",
"hgvs_p": null,
"transcript": "ENST00000467713.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "n.915C>G",
"hgvs_p": null,
"transcript": "ENST00000482691.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "n.*787C>G",
"hgvs_p": null,
"transcript": "ENST00000674057.1",
"protein_id": "ENSP00000501128.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "n.1750C>G",
"hgvs_p": null,
"transcript": "ENST00000682120.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "n.*1090C>G",
"hgvs_p": null,
"transcript": "ENST00000682200.1",
"protein_id": "ENSP00000508321.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "n.*1288C>G",
"hgvs_p": null,
"transcript": "ENST00000682403.1",
"protein_id": "ENSP00000507865.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "n.*707C>G",
"hgvs_p": null,
"transcript": "ENST00000682771.1",
"protein_id": "ENSP00000507114.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "n.*1371C>G",
"hgvs_p": null,
"transcript": "ENST00000682790.1",
"protein_id": "ENSP00000507904.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD1",
"gene_hgnc_id": 14630,
"hgvs_c": "n.2301C>G",
"hgvs_p": null,
"transcript": "ENST00000682884.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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{
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{
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{
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}
],
"gene_symbol": "CRELD1",
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"dbsnp": "rs41276501",
"frequency_reference_population": 0.0007566809,
"hom_count_reference_population": 1,
"allele_count_reference_population": 606,
"gnomad_exomes_af": 0.000775605,
"gnomad_genomes_af": 0.000676119,
"gnomad_exomes_ac": 503,
"gnomad_genomes_ac": 103,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.009648323059082031,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.023,
"revel_prediction": "Benign",
"alphamissense_score": 0.0704,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.934,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000452070.6",
"gene_symbol": "CRELD1",
"hgnc_id": 14630,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1049-299C>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000683484.1",
"gene_symbol": "ENSG00000288550",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*697-299C>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000707135.1",
"gene_symbol": "PRRT3",
"hgnc_id": 26591,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.957+2019G>C",
"hgvs_p": null
}
],
"clinvar_disease": " 2, susceptibility to,Atrioventricular septal defect,CRELD1-related disorder,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "Atrioventricular septal defect, susceptibility to, 2|not provided|CRELD1-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}