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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: 10-86679420-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=86679420&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 86679420,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000443292.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Val49Val",
"transcript": "NM_007078.3",
"protein_id": "NP_009009.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 727,
"cds_start": 147,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 5363,
"mane_select": "ENST00000361373.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Val49Val",
"transcript": "ENST00000361373.9",
"protein_id": "ENSP00000355296.3",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 727,
"cds_start": 147,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 5363,
"mane_select": "NM_007078.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Val49Val",
"transcript": "NM_001368067.1",
"protein_id": "NP_001354996.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 283,
"cds_start": 147,
"cds_end": null,
"cds_length": 852,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 1611,
"mane_select": null,
"mane_plus": "ENST00000263066.11",
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Val49Val",
"transcript": "ENST00000263066.11",
"protein_id": "ENSP00000263066.7",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 283,
"cds_start": 147,
"cds_end": null,
"cds_length": 852,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 1611,
"mane_select": null,
"mane_plus": "NM_001368067.1",
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289258",
"gene_hgnc_id": null,
"hgvs_c": "c.1656G>A",
"hgvs_p": "p.Val552Val",
"transcript": "ENST00000443292.2",
"protein_id": "ENSP00000393132.2",
"transcript_support_level": 1,
"aa_start": 552,
"aa_end": null,
"aa_length": 833,
"cds_start": 1656,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 1823,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Val49Val",
"transcript": "ENST00000372056.8",
"protein_id": "ENSP00000361126.4",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 398,
"cds_start": 147,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 147,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Val49Val",
"transcript": "ENST00000623007.3",
"protein_id": "ENSP00000485389.1",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 330,
"cds_start": 147,
"cds_end": null,
"cds_length": 993,
"cdna_start": 147,
"cdna_end": null,
"cdna_length": 1664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Val49Val",
"transcript": "ENST00000372066.8",
"protein_id": "ENSP00000361136.3",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 283,
"cds_start": 147,
"cds_end": null,
"cds_length": 852,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 1607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Val49Val",
"transcript": "NM_001171610.2",
"protein_id": "NP_001165081.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 732,
"cds_start": 147,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 5378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Val49Val",
"transcript": "ENST00000623056.4",
"protein_id": "ENSP00000485500.1",
"transcript_support_level": 5,
"aa_start": 49,
"aa_end": null,
"aa_length": 732,
"cds_start": 147,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 2309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Val49Val",
"transcript": "NM_001368066.1",
"protein_id": "NP_001354995.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 680,
"cds_start": 147,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 5222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Val49Val",
"transcript": "ENST00000689740.1",
"protein_id": "ENSP00000510300.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 680,
"cds_start": 147,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 212,
"cdna_end": null,
"cdna_length": 2296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Val49Val",
"transcript": "ENST00000693680.1",
"protein_id": "ENSP00000509539.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 680,
"cds_start": 147,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Val49Val",
"transcript": "NM_001368064.1",
"protein_id": "NP_001354993.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 664,
"cds_start": 147,
"cds_end": null,
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"cdna_start": 231,
"cdna_end": null,
"cdna_length": 5175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Val49Val",
"transcript": "NM_001368065.1",
"protein_id": "NP_001354994.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 664,
"cds_start": 147,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 5174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Val49Val",
"transcript": "ENST00000688001.1",
"protein_id": "ENSP00000508987.1",
"transcript_support_level": null,
"aa_start": 49,
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"cds_start": 147,
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"cdna_start": 227,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Val49Val",
"transcript": "ENST00000689296.1",
"protein_id": "ENSP00000510609.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 664,
"cds_start": 147,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 176,
"cdna_end": null,
"cdna_length": 2212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Val49Val",
"transcript": "NM_001080114.2",
"protein_id": "NP_001073583.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 617,
"cds_start": 147,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 5033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Val49Val",
"transcript": "ENST00000429277.7",
"protein_id": "ENSP00000401437.3",
"transcript_support_level": 2,
"aa_start": 49,
"aa_end": null,
"aa_length": 617,
"cds_start": 147,
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"cdna_start": 230,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Val49Val",
"transcript": "NM_001171611.2",
"protein_id": "NP_001165082.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 398,
"cds_start": 147,
"cds_end": null,
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"cdna_start": 230,
"cdna_end": null,
"cdna_length": 1956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Val49Val",
"transcript": "NM_001080115.2",
"protein_id": "NP_001073584.1",
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"aa_start": 49,
"aa_end": null,
"aa_length": 330,
"cds_start": 147,
"cds_end": null,
"cds_length": 993,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Val49Val",
"transcript": "NM_001368063.1",
"protein_id": "NP_001354992.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 330,
"cds_start": 147,
"cds_end": null,
"cds_length": 993,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 1753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Val49Val",
"transcript": "ENST00000688678.1",
"protein_id": "ENSP00000510048.1",
"transcript_support_level": null,
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"gnomad_genomes_ac": 466,
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"computational_score_selected": -0.5400000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.27,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -17,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000443292.2",
"gene_symbol": "ENSG00000289258",
"hgnc_id": null,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.1656G>A",
"hgvs_p": "p.Val552Val"
},
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000361373.9",
"gene_symbol": "LDB3",
"hgnc_id": 15710,
"effects": [
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],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.147G>A",
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}
],
"clinvar_disease": "Cardiomyopathy,Cardiovascular phenotype,LDB3-related disorder,Myofibrillar myopathy 4,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5 B:6",
"phenotype_combined": "not specified|Cardiovascular phenotype|Cardiomyopathy|Myofibrillar myopathy 4|not provided|LDB3-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}