use strict;
use lib "/opt/ensembl/modules";
use lib "/opt/ensembl-variation/modules";
use Bio::EnsEMBL::Registry;
my $chromo=$ARGV[0];
my $position=int($ARGV[1]);
my $reference_base=$ARGV[2];
my $seqenced_base=$ARGV[3];
my $reg = 'Bio::EnsEMBL::Registry';
$reg->load_registry_from_db(-host => 'ensembldb.ensembl.org',-user => 'anonymous');
my $vfa = $reg->get_adaptor('human', 'variation', 'variationfeature');
my $sa = $reg->get_adaptor('human', 'core', 'slice');
my $slice = $sa->fetch_by_region('chromosome', $chromo);
my $new_vf = Bio::EnsEMBL::Variation::VariationFeature->new(
-start => $position,
-end => $position,
-slice => $slice,
-allele_string => "$reference_base/$seqenced_base",
-strand => 1,
-map_weight => 1,
-adaptor => $vfa,
-variation_name => 'newSNP',
);
foreach my $con (@{$new_vf->get_all_TranscriptVariations}) {
if (defined $con->pep_allele_string) {
my $aa_change=$con->pep_allele_string;
print "AA change: $aa_change\n";
}
foreach my $string (@{$con->consequence_type}) {
my $sid=$con->transcript->stable_id;
print "$sid\t$string\n";
}
}