Metadata-Version: 2.1
Name: genebe
Version: 0.0.14
Summary: GeneBe Client: A user-friendly system for annotating genetic variants
Home-page: https://genebe.net
Author: Piotr Stawinski
Description-Content-Type: text/markdown
Requires-Dist: pymmh3
Requires-Dist: tinynetrc
Requires-Dist: pandas
Requires-Dist: requests
Requires-Dist: tqdm
Requires-Dist: jsonlines
Provides-Extra: cpp
Requires-Dist: mmh3; extra == "cpp"
Requires-Dist: cyvcf2; extra == "cpp"

## GeneBe Utils
Welcome to GeneBe Utils, a Python package that complements the innovative GeneBe platform. GeneBe is a cutting-edge genetics platform designed to empower individuals with insights into their health and well-being.

Using this client, you can easily annotate your DNA variants with the GeneBe API. Annotations include:
* Gene, transcript, and effect
* ClinVar phenotype
* GnomAD frequency
* ACMG score
* ... if you need more, please let me know

### Usage

#### Command line usage

Check current options using `--help` switch

```
genebe --help
genebe annotate --help
```


##### Annotating VCF using `annotate` command
GeneBe client allows you to annotate your VCF file with ease. Use the following command:

```
genebe annotate --input input.vcf.gz --output output.vcf.gz
```

Remember that your VCF file must be in a single allelic format! Utilize bcftools (https://samtools.github.io/bcftools/) to split the file. The output VCF will contain additional fields.

To use VCF annoation you have to have `cyvcf2` package installed. Take a look at the Installation section below.

If your VCF file is large (over 10.000 variants), you may encounter request limits. To avoid this, create a GeneBe account with an API Key and provide your login/key using the --username and --api-key arguments. You can always check your limits with the account command. Update your annotation command as follows:

```
genebe annotate --input input.vcf.gz --output output.vcf.gz --username your_username --api-key your_api_key
```

For more information call

```
genebe annotate --help
```




##### Using `account` command

The account command displays information about your request history statistics and limits. To check your limits without specifying a username and API key, run:

```
genebe account
```

Alternatively, if you have a GeneBe account with an API key, use the following command:

```
genebe account --username your_username --api-key your_api_key
```

Replace "your_username" and "your_api_key" with your GeneBe account credentials.

For more details and options, you can refer to the help documentation:

```
genebe account --help
```



#### Python usage

GeneBe makes annotating DNA variants in pandas dataframe easy.

```python
import genebe as gnb

input_variants = ['7-69599651-A-G']

# output as a list, with all transcripts
list = gnb.annotate_variants_list(input_variants,flatten_consequences = False)

# output as a pandas dataframe, flat
df = gnb.annotate_variants_list_to_dataframe(input_variants, flatten_consequences=True)

# parse HGVS
input_hgvs = ['NM_000277.2:c.1A>G']
parsed_variants = gnb.parse_hgvs(input_hgvs)

```

If you want to annotate thousands of variants, please log in to https://genebe.net, generate an API Key, and provide it using `username` and `api_key`.

### Installation
You can install GeneBe Utils using pip:

```
pip install genebe
```

If you wish to install faster `mmh3` implementation or use the option of annotating vcf files install using:

```
pip install genebe[cpp]
```

or install modules

```
pip install cyvcf2
pip install mmh3
```

in the environment.

This step will require build tools installed on your computer.

### Docker
There is a dockerized version of this package, available at


For more information about GeneBe, visit GeneBe website, https://genebe.net .




