alphagenome_integration.feature•2.6 kB
Feature: AlphaGenome Integration
As a researcher
I want to predict variant effects using AlphaGenome
So that I can understand the functional impact of genetic variants
Background:
Given the AlphaGenome integration is available
Scenario: Predict effects for a simple SNV
When I request predictions for variant chr7:140753336 A>T
Then the prediction should include gene expression effects
And the prediction should include chromatin accessibility changes
And the prediction should include a summary of affected tracks
Scenario: Handle missing API key gracefully
Given the ALPHAGENOME_API_KEY is not set
When I request predictions for any variant
Then I should receive instructions on how to obtain an API key
And the response should mention that standard annotations are still available
Scenario: Validate chromosome format
When I request predictions for variant 23:100 A>T
Then I should receive an error about invalid chromosome format
And the error should specify the expected format
Scenario: Validate nucleotide sequences
When I request predictions for variant chr1:100 N>T
Then I should receive an error about invalid nucleotides
And the error should specify that only A, C, G, T are allowed
Scenario: Use custom significance threshold
When I request predictions for variant chr7:140753336 A>T with threshold 0.3
Then the summary should reflect the custom threshold value
And more tracks should be marked as significant compared to default
Scenario: Handle large genomic intervals
When I request predictions with interval size 2000000
Then the system should use the maximum supported size of 1048576
And the prediction should complete successfully
Scenario: Cache prediction results
When I request predictions for variant chr7:140753336 A>T
And I request the same prediction again
Then the second request should return cached results
And the response time should be significantly faster
Scenario: Include tissue-specific predictions
When I request predictions for variant chr7:140753336 A>T with tissue types UBERON:0002367,UBERON:0001157
Then the prediction should consider tissue-specific effects
And the context should show the specified tissue types
Scenario: Handle AlphaGenome API errors
Given the AlphaGenome API returns an error
When I request predictions for any variant
Then I should receive a detailed error message
And the error should include the variant context
And the error should include the analysis parameters