Validate and normalize one HGVS variant

Validate and normalize one HGVS variant

Usage

variantvalidator_normalize(
  hgvs,
  build = "GRCh38",
  throttle = VARIANTVALIDATOR_THROTTLE,
  ...
)

Arguments

hgvs

An HGVS transcript variant.

build

A genome build.

throttle

A throttle spec. Defaults to the documented 4 per second.

...

Passed to biohttp::get_json().

Value

A biohttp envelope whose data is the tibble described in variantvalidator_parse().

References

Freeman et al. (2018). VariantValidator: accurate validation, mapping, and formatting of sequence variation descriptions. Human Mutation 39(1), 61-68. doi:10.1002/humu.23348

Service documentation: https://variantvalidator.org/

Examples

# \donttest{
biohttp::body_or_null(variantvalidator_normalize("NM_000546.6:c.215C>G"))
#> NULL
# }