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README.md

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**Here**, this API with both CLI and GUI versions is able to search the genes or transcripts of your interest and retrieve variant data from the database via [gnomAD backend API](https://gnomad.broadinstitute.org/api) that based on GraphQL query language.
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## :hash: Requirements and Installation
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- Create a directory and download the "**gnomad_python_cli.py**" and "**requirements.txt**" files or clone the repository via Git using following command:
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- Create a directory and download the "**gnomad_api_cli.py**" and "**requirements.txt**" files or clone the repository via Git using following command:
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`git clone https://github.com/furkanmtorun/gnomad_python_api.git`
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| -search_by | *It defines the input.* | Type a gene/transcript identifier <br> *e.g.: TP53, ENSG00000169174, ENST00000544455* <br> Type the name of file containig your inputs <br> *e.g: myGenes.txt*
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| -dataset | *It defines the dataset.* | `exac`, `gnomad_r2_1`, `gnomad_r3`, `gnomad_r2_1_controls`, `gnomad_r2_1_non_neuro`, `gnomad_r2_1_non_cancer`, or `gnomad_r2_1_non_topmed`
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| -sv_dataset | *It defines structural variants dataset* | `gnomad_sv_r2_1`, `gnomad_sv_r2_1_controls`, or `gnomad_sv_r2_1_non_neuro`
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| -h | *It displays the parameters.* | *To get help via script:* `python gnomad_python_cli.py -h`
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| -h | *It displays the parameters.* | *To get help via script:* `python gnomad_api_cli.py -h`
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> ❗ Here, for getting variants, `gnomad_r2_1` and `gnomad_sv_r2_1` are defined as default values for these two `-dataset` and `-sv_dataset` options, respectively.
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*For gene name:*
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`python gnomad_python_cli.py -filter_by=gene_name -search_by="BRCA1" -dataset="gnomad_r2_1" -sv_dataset="gnomad_sv_r2_1"`
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`python gnomad_api_cli.py -filter_by=gene_name -search_by="BRCA1" -dataset="gnomad_r2_1" -sv_dataset="gnomad_sv_r2_1"`
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*For Ensembl gene ID*
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`python gnomad_python_cli.py -filter_by=gene_id -search_by="ENSG00000169174" -dataset="gnomad_r2_1" -sv_dataset="gnomad_sv_r2_1"`
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`python gnomad_api_cli.py -filter_by=gene_id -search_by="ENSG00000169174" -dataset="gnomad_r2_1" -sv_dataset="gnomad_sv_r2_1"`
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- **How to list the variants by transcript ID?**
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`python gnomad_python_cli.py -filter_by=transcript_id -search_by="ENST00000407236" -dataset="gnomad_r2_1"`
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`python gnomad_api_cli.py -filter_by=transcript_id -search_by="ENST00000407236" -dataset="gnomad_r2_1"`
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- **How to get variant info by RS ID (rsId)?**
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`python gnomad_python_cli.py -filter_by=rs_id -search_by="rs201857604" -dataset="gnomad_r2_1"`
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`python gnomad_api_cli.py -filter_by=rs_id -search_by="rs201857604" -dataset="gnomad_r2_1"`
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- **How to list the variants using a file containing genes/transcripts?**
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- Then, run the following command:
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`python gnomad_python_cli.py -filter_by="gene_id" -search_by="myFavoriteGenes.txt" -dataset="gnomad_r2_1" -sv_dataset="gnomad_sv_r2_1"`
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`python gnomad_api_cli.py -filter_by="gene_id" -search_by="myFavoriteGenes.txt" -dataset="gnomad_r2_1" -sv_dataset="gnomad_sv_r2_1"`
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> Please, use only one type of identifier in the file.
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