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omim.md

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1# OMIM (Online Mendelian Inheritance in Man) API Reference

OMIM (Online Mendelian Inheritance in Man) API Reference

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3## Base URL

4```

5https://api.omim.org/api

6```

Base URL

https://api.omim.org/api

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8## Authentication

9**API key REQUIRED.** Request at https://omim.org/api (free for academic/non-commercial use).

10- Pass as query parameter: `?apiKey=YOUR_API_KEY`

11- All requests require the key; unauthenticated requests are rejected.

Authentication

API key REQUIRED. Request at https://omim.org/api (free for academic/non-commercial use).

Pass as query parameter: ?apiKey=YOUR_API_KEY
All requests require the key; unauthenticated requests are rejected.

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13## Rate Limits

14Not publicly documented in detail. Reasonable usage expected per terms of service.

Rate Limits

Not publicly documented in detail. Reasonable usage expected per terms of service.

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16## Response Format

17JSON (with `&format=json`) or XML (default). Always append `&format=json` for JSON responses.

Response Format

JSON (with &format=json) or XML (default). Always append &format=json for JSON responses.

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19## Key Endpoints

Key Endpoints

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21### 1. Entry Lookup (by MIM number)

22```

23GET https://api.omim.org/api/entry?mimNumber={mim_number}&apiKey={key}&format=json

24```

25Example:

26```

27GET https://api.omim.org/api/entry?mimNumber=141900&apiKey=YOUR_KEY&format=json

28```

29Returns entry metadata; request text, gene maps, allelic variants and references with the corresponding `include` options.

1. Entry Lookup (by MIM number)

GET https://api.omim.org/api/entry?mimNumber={mim_number}&apiKey={key}&format=json

Example:

GET https://api.omim.org/api/entry?mimNumber=141900&apiKey=YOUR_KEY&format=json

Returns entry metadata; request text, gene maps, allelic variants and references with the corresponding include options.

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31### 2. Entry with Specific Includes

32```

33GET https://api.omim.org/api/entry?mimNumber=141900&include=text&include=allelicVariantList&include=geneMap&apiKey={key}&format=json

34```

35Include options: `text`, `clinicalSynopsis`, `geneMap`, `allelicVariantList`, `referenceList`, `existFlags`, `externalLinks`.

2. Entry with Specific Includes

GET https://api.omim.org/api/entry?mimNumber=141900&include=text&include=allelicVariantList&include=geneMap&apiKey={key}&format=json

Include options: text, clinicalSynopsis, geneMap, allelicVariantList, referenceList, existFlags, externalLinks.

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37### 3. Search Entries

38```

39GET https://api.omim.org/api/entry/search?search={query}&apiKey={key}&format=json

40```

41Example — search for "Marfan syndrome":

42```

43GET https://api.omim.org/api/entry/search?search=marfan+syndrome&apiKey=YOUR_KEY&format=json&start=0&limit=10

44```

3. Search Entries

GET https://api.omim.org/api/entry/search?search={query}&apiKey={key}&format=json

Example — search for "Marfan syndrome":

GET https://api.omim.org/api/entry/search?search=marfan+syndrome&apiKey=YOUR_KEY&format=json&start=0&limit=10

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46### 4. Search filters

48`/entry/search` accepts a `filter` search expression, `fields`, `operator=AND|OR`, and `sort`. `filter` is not an enum of `gene`, `phenotype`, and `clinical_synopsis`. Use fielded OMIM search syntax from [OMIM search help](https://omim.org/help/search), or construct the query with the [official API form](https://api.omim.org/api/html/index.html). Do not invent unsupported filter values.

4. Search filters

/entry/search accepts a filter search expression, fields, operator=AND|OR, and sort. filter is not an enum of gene, phenotype, and clinical_synopsis. Use fielded OMIM search syntax from OMIM search help, or construct the query with the official API form. Do not invent unsupported filter values.

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50### 5. Gene Map Lookup

51```

52GET https://api.omim.org/api/geneMap?chromosome={chrom}&apiKey={key}&format=json

53```

54Example:

55```

56GET https://api.omim.org/api/geneMap?chromosome=17&apiKey=YOUR_KEY&format=json&start=0&limit=10

57```

5. Gene Map Lookup

GET https://api.omim.org/api/geneMap?chromosome={chrom}&apiKey={key}&format=json

Example:

GET https://api.omim.org/api/geneMap?chromosome=17&apiKey=YOUR_KEY&format=json&start=0&limit=10

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59### 6. Gene Map Search

60```

61GET https://api.omim.org/api/geneMap/search?search={query}&apiKey={key}&format=json

62```

6. Gene Map Search

GET https://api.omim.org/api/geneMap/search?search={query}&apiKey={key}&format=json

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64### 7. Clinical Synopsis Search

65```

66GET https://api.omim.org/api/clinicalSynopsis/search?search={query}&apiKey={key}&format=json

67```

7. Clinical Synopsis Search

GET https://api.omim.org/api/clinicalSynopsis/search?search={query}&apiKey={key}&format=json

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69## Response Structure (illustrative; fields depend on requested includes)

70```json

71{

72 "omim": {

73 "version": "1.0",

74 "entryList": [

75 {

76 "entry": {

77 "mimNumber": 141900,

78 "status": "live",

79 "titles": {

80 "preferredTitle": "HEMOGLOBIN--BETA LOCUS; HBB"

81 },

82 "textSectionList": [...],

83 "geneMap": {

84 "chromosome": "11",

85 "cytoLocation": "11p15.4",

86 "geneSymbols": "HBB"

87 }

88 }

89 }

90 ]

91 }

92}

93```

Response Structure (illustrative; fields depend on requested includes)

{
  "omim": {
    "version": "1.0",
    "entryList": [
      {
        "entry": {
          "mimNumber": 141900,
          "status": "live",
          "titles": {
            "preferredTitle": "HEMOGLOBIN--BETA LOCUS; HBB"
          },
          "textSectionList": [...],
          "geneMap": {
            "chromosome": "11",
            "cytoLocation": "11p15.4",
            "geneSymbols": "HBB"
          }
        }
      }
    ]
  }
}

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95## Pagination

96Use `start` and `limit` query parameters:

97```

98&start=0&limit=20

99```

100

Pagination

Use start and limit query parameters:

&start=0&limit=20

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101## MIM Number Types

102- **Asterisk (*)**: Gene

103- **Plus (+)**: Gene with known phenotype

104- **Number sign (#)**: Phenotype (molecular basis known)

105- **Percent (%)**: Phenotype (molecular basis unknown)

106- **Null**: Other entry types

107

MIM Number Types

**Asterisk (*)**: Gene
Plus (+): Gene with known phenotype
Number sign (#): Phenotype (molecular basis known)
Percent (%): Phenotype (molecular basis unknown)
Null: Other entry types

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108## Notes

109- OMIM data is copyrighted; API access is free for academic use but requires registration.

110- The API does not support bulk downloads; use OMIM downloads page with separate agreement.

111- Cross-reference MIM numbers with ClinVar, NCBI Gene, and HPO for integrated disease analysis.

Notes

OMIM data is copyrighted; API access is free for academic use but requires registration.
The API does not support bulk downloads; use OMIM downloads page with separate agreement.
Cross-reference MIM numbers with ClinVar, NCBI Gene, and HPO for integrated disease analysis.

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