Combination List
This API endpoint handles listing (/combinations) and retrieval (/combinations/{combination_pk}/) of oligogenic combinations from the database
GET /api/variants/381/combinations/?format=api&ordering=-ethnicity
https://olida.ibsquare.be/api/combinations/OLI1300/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1300/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "381" }, { "type": "SmallVariant", "id": "2730" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1300/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1300/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "937" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1300/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1300/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1300/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1300/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "909" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1300/?format=api" } }, { "type": "Combination", "id": "OLI1379", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM228300" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:52.185207" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "-14" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1379/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1379/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "381" }, { "type": "SmallVariant", "id": "2889" }, { "type": "SmallVariant", "id": "2890" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1379/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1379/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "955" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1379/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1379/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1379/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1379/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "957" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1379/?format=api" } }, { "type": "Combination", "id": "OLI1385", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 0, "functional_variant_evidence_metascore": 0, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM228300" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:52.947924" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "-15" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1385/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1385/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "2905" }, { "type": "SmallVariant", "id": "381" }, { "type": "SmallVariant", "id": "2906" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1385/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1385/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "955" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1385/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1385/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1385/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1385/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "963" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1385/?format=api" } }, { "type": "Combination", "id": "OLI1377", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM228300" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:51.990695" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "-14" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1377/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1377/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "381" }, { "type": "SmallVariant", "id": "2885" }, { "type": "SmallVariant", "id": "2886" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1377/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1377/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "955" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1377/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1377/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1377/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1377/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "955" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1377/?format=api" } }, { "type": "Combination", "id": "OLI1275", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 1, "functional_gene_evidence_manual_harmonized": 1, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 1, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM613375", "OMIM615270", "OMIM146110", "OMIM614858", "OMIM614838", "OMIM612702", "OMIM616329", "OMIM125851", "OMIM614842", "OMIM610508", "OMIM244200", "OMIM615266", "OMIM308700", "OMIM612370", "OMIM600496", "OMIM612225", "OMIM614840", "OMIM615269", "OMIM609812", "OMIM606391", "OMIM606392", "OMIM614841", "OMIM614837", "OMIM610628", "OMIM606394", "OMIM125850", "OMIM616511", "OMIM614880", "OMIM147950", "OMIM614839", "OMIM613370" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:44.240944" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1275/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1275/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "2689" }, { "type": "SmallVariant", "id": "2690" }, { "type": "SmallVariant", "id": "381" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1275/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1275/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "937" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1275/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1275/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1275/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1275/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "894" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1275/?format=api" } }, { "type": "Combination", "id": "OLI1277", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 1, "functional_gene_evidence_manual_harmonized": 1, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 1, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM613375", "OMIM615270", "OMIM146110", "OMIM614858", "OMIM614838", "OMIM612702", "OMIM616329", "OMIM125851", "OMIM614842", "OMIM610508", "OMIM244200", "OMIM615266", "OMIM308700", "OMIM612370", "OMIM600496", "OMIM612225", "OMIM614840", "OMIM615269", "OMIM609812", "OMIM606391", "OMIM606392", "OMIM614841", "OMIM614837", "OMIM610628", "OMIM606394", "OMIM125850", "OMIM616511", "OMIM614880", "OMIM147950", "OMIM614839", "OMIM613370" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:44.352866" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1277/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1277/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "381" }, { "type": "SmallVariant", "id": "2692" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1277/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1277/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "937" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1277/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1277/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1277/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1277/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "895" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1277/?format=api" } }, { "type": "Combination", "id": "OLI1288", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 1, "functional_gene_evidence_manual_harmonized": 2, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 2, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 1 }, "omim_id": [ "OMIM615270", "OMIM615267", "OMIM618841", "OMIM614858", "OMIM614838", "OMIM612702", "OMIM244200", "OMIM615266", "OMIM308700", "OMIM612370", "OMIM614840", "OMIM615269", "OMIM616030", "OMIM614837", "OMIM615271", "OMIM610628", "OMIM614897", "OMIM614880", "OMIM147950" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:45.119336" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "478" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1288/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1288/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2662" }, { "type": "SmallVariant", "id": "381" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1288/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1288/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "937" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1288/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1288/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1288/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1288/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "116" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1288/?format=api" } }, { "type": "Combination", "id": "OLI1296", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 1, "functional_gene_evidence_manual_harmonized": 1, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 1, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM615270", "OMIM615267", "OMIM618841", "OMIM614858", "OMIM614838", "OMIM612702", "OMIM244200", "OMIM615266", "OMIM308700", "OMIM612370", "OMIM614840", "OMIM615269", "OMIM616030", "OMIM614837", "OMIM615271", "OMIM610628", "OMIM614897", "OMIM614880", "OMIM147950" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:45.558212" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "478" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1296/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1296/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "2723" }, { "type": "SmallVariant", "id": "2724" }, { "type": "SmallVariant", "id": "381" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1296/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1296/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "937" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1296/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1296/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1296/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1296/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "905" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1296/?format=api" } }, { "type": "Combination", "id": "OLI1239", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 1, "functional_gene_evidence_manual_harmonized": 1, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 1, "functional_final_metascore": 1, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM614390", "OMIM614391", "OMIM614389" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Turkish", "lastmodified": "2023-05-16T12:02:41.806891" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "-11" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1239/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1239/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "2624" }, { "type": "SmallVariant", "id": "381" }, { "type": "SmallVariant", "id": "2625" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1239/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1239/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "929" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1239/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1239/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1239/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1239/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "872" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1239/?format=api" } }, { "type": "Combination", "id": "OLI1604", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 1, "functional_gene_evidence_manual_harmonized": 1, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 1, "functional_final_metascore": 1, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM613375", "OMIM615270", "OMIM146110", "OMIM614858", "OMIM614838", "OMIM612702", "OMIM616329", "OMIM125851", "OMIM614842", "OMIM610508", "OMIM244200", "OMIM615266", "OMIM308700", "OMIM612370", "OMIM600496", "OMIM612225", "OMIM614840", "OMIM615269", "OMIM609812", "OMIM606391", "OMIM606392", "OMIM614841", "OMIM614837", "OMIM610628", "OMIM606394", "OMIM125850", "OMIM616511", "OMIM614880", "OMIM147950", "OMIM614839", "OMIM613370" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T12:03:10.056847" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1604/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1604/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "3382" }, { "type": "SmallVariant", "id": "3383" }, { "type": "SmallVariant", "id": "381" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1604/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1604/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "969" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1604/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1604/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1604/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1604/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1134" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1604/?format=api" } }, { "type": "Combination", "id": "OLI199", "attributes": { "scores": { "familial_evidence": 3, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 1, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 2, "functional_gene_evidence_manual_harmonized": 2, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 2, "functional_variant_evidence_manual": 2, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 2, "functional_final_manual": 2, "functional_final_metascore": 2, "final_manual": 3, "final_metascore": 3 }, "omim_id": [ "OMIM613375", "OMIM615270", "OMIM146110", "OMIM614858", "OMIM614838", "OMIM612702", "OMIM616329", "OMIM125851", "OMIM614842", "OMIM610508", "OMIM244200", "OMIM615266", "OMIM308700", "OMIM612370", "OMIM600496", "OMIM612225", "OMIM614840", "OMIM615269", "OMIM609812", "OMIM606391", "OMIM606392", "OMIM614841", "OMIM614837", "OMIM610628", "OMIM606394", "OMIM125850", "OMIM616511", "OMIM614880", "OMIM147950", "OMIM614839", "OMIM613370" ], "oligogenic_effect": "Monogenic+Modifier", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:40.754917" }, "relationships": { "diseases": { "meta": { "count": 2 }, "data": [ { "type": "Disease", "id": "432" }, { "type": "Disease", "id": "238666" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI199/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI199/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "381" }, { "type": "SmallVariant", "id": "387" }, { "type": "SmallVariant", "id": "388" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI199/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI199/variants/?format=api" } }, "reference_set": { "meta": { "count": 5 }, "data": [ { "type": "Reference", "id": "655" }, { "type": "Reference", "id": "661" }, { "type": "Reference", "id": "667" }, { "type": "Reference", "id": "780" }, { "type": "Reference", "id": "848" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI199/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI199/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI199/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI199/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "130" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI199/?format=api" } }, { "type": "Combination", "id": "OLI1165", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 1, "functional_gene_evidence_manual_harmonized": 1, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 0, "functional_variant_evidence_metascore": 0, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM615270", "OMIM615267", "OMIM618841", "OMIM614858", "OMIM614838", "OMIM612702", "OMIM244200", "OMIM615266", "OMIM308700", "OMIM612370", "OMIM614840", "OMIM615269", "OMIM616030", "OMIM614837", "OMIM615271", "OMIM610628", "OMIM614897", "OMIM614880", "OMIM147950" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2022-08-04T14:15:43.099354" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "478" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1165/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1165/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "2503" }, { "type": "SmallVariant", "id": "381" }, { "type": "SmallVariant", "id": "2504" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1165/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1165/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "920" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1165/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1165/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1165/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1165/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "848" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1165/?format=api" } }, { "type": "Combination", "id": "OLI195", "attributes": { "scores": { "familial_evidence": 1, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 2, "functional_gene_evidence_manual_harmonized": 2, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 2, "functional_variant_evidence_manual": 2, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 2, "functional_final_manual": 2, "functional_final_metascore": 2, "final_manual": 1, "final_metascore": 1 }, "omim_id": [ "OMIM613375", "OMIM615270", "OMIM146110", "OMIM614858", "OMIM614838", "OMIM612702", "OMIM616329", "OMIM125851", "OMIM614842", "OMIM610508", "OMIM244200", "OMIM615266", "OMIM308700", "OMIM612370", "OMIM600496", "OMIM612225", "OMIM614840", "OMIM615269", "OMIM609812", "OMIM606391", "OMIM606392", "OMIM614841", "OMIM614837", "OMIM610628", "OMIM606394", "OMIM125850", "OMIM616511", "OMIM614880", "OMIM147950", "OMIM614839", "OMIM613370" ], "oligogenic_effect": "Monogenic+Modifier", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:40.685642" }, "relationships": { "diseases": { "meta": { "count": 2 }, "data": [ { "type": "Disease", "id": "432" }, { "type": "Disease", "id": "238666" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI195/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI195/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "379" }, { "type": "SmallVariant", "id": "380" }, { "type": "SmallVariant", "id": "381" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI195/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI195/variants/?format=api" } }, "reference_set": { "meta": { "count": 3 }, "data": [ { "type": "Reference", "id": "655" }, { "type": "Reference", "id": "667" }, { "type": "Reference", "id": "780" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI195/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI195/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI195/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI195/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "130" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI195/?format=api" } }, { "type": "Combination", "id": "OLI1532", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Algerian", "lastmodified": "2023-05-16T12:03:04.003659" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "98085" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1532/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1532/diseases/?format=api" } }, "variant_set": { "meta": { "count": 5 }, "data": [ { "type": "SmallVariant", "id": "381" }, { "type": "SmallVariant", "id": "3217" }, { "type": "SmallVariant", "id": "3218" }, { "type": "SmallVariant", "id": "3219" }, { "type": "SmallVariant", "id": "3220" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1532/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1532/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "965" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1532/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1532/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1532/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1532/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1076" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1532/?format=api" } } ], "meta": { "database_name": "OLIgogenic diseases DAtabase (OLIDA)", "resource_url": "olida.ibsquare.be", "api_release_year": "2021", "api_developer": [ [ "Arnau Dillen", "arnau.dillen@ulb.ac.be" ], [ "Charlotte Nachtegael", "charlotte.nachtegael@ulb.be" ] ], "api_version": "0.3", "api_maintainers": [ [ "Charlotte Nachtegael", "charlotte.nachtegael@ulb.be" ] ], "api_documentation": [ "olida.ibsquare.be/api/swagger", "olida.ibsquare.be/api/redoc" ], "copyright": "Copyright (c) 2025 · OLIDA All Rights Reserved.", "license": "CC Attribution-NonCommercial 4.0 International License", "ontologies": { "ORDO": "http://bioportal.bioontology.org/ontologies/ORDO", "GENO": "http://purl.obolibrary.org/obo/geno.owl", "MI": "http://purl.obolibrary.org/obo/mi.owl", "NCIT": "http://purl.obolibrary.org/obo/ncit.owl", "OGI": "http://purl.obolibrary.org/obo/ogi.owl", "OGG": "http://purl.obolibrary.org/obo/ogg.owl" }, "relevant_publications_doi": [ "10.1093/nar/gkv1068", "10.1093/database/baac023" ], "size": 14 } }{ "data": [ { "type": "Combination", "id": "OLI1300", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 1, "functional_gene_evidence_manual_harmonized": 1, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 1, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM613375", "OMIM615270", "OMIM146110", "OMIM614858", "OMIM614838", "OMIM612702", "OMIM616329", "OMIM125851", "OMIM614842", "OMIM610508", "OMIM244200", "OMIM615266", "OMIM308700", "OMIM612370", "OMIM600496", "OMIM612225", "OMIM614840", "OMIM615269", "OMIM609812", "OMIM606391", "OMIM606392", "OMIM614841", "OMIM614837", "OMIM610628", "OMIM606394", "OMIM125850", "OMIM616511", "OMIM614880", "OMIM147950", "OMIM614839", "OMIM613370" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:45.788390" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "