gnomad API graphQL query

gnomad_graphQL

# API URL: https://gnomad.broadinstitute.org/api/
# Document: https://github.com/macarthur-lab/gnomadjs/blob/master/projects/gnomad-api/README.md

## gene ######################
{
  gene(gene_name: "NLRP3") {
    symbol
    name
    full_gene_name
    hgnc_id
    canonical_transcript_id
    omim_id
    gnomad_constraint {
      exp_lof
      exp_mis
      exp_syn
      obs_lof
      obs_mis
      obs_syn
      oe_lof
      oe_lof_lower
      oe_lof_upper
      oe_mis
      oe_mis_lower
      oe_mis_upper
      oe_syn
      oe_syn_lower
      oe_syn_upper
      lof_z
      mis_z
      syn_z
      pLI
    }
  }
}

## variant by chr-pos-ref-alt, INDEL ######################
{
  variant(variantId: "1-55517991-C-CAT", dataset: gnomad_r2_1) {
    variantId
    reference_genome
    chrom
    pos
    ref
    alt
    colocatedVariants
    sortedTranscriptConsequences {
      transcript_id
      consequence_terms
      canonical
      major_consequence
      polyphen_prediction
      sift_prediction
      lof
    }
  }
}

## variant another, SNP ######################
{
  variant(variantId: "1-94495164-G-A", dataset: gnomad_r2_1) {
    variantId
    reference_genome
    chrom
    pos
    ref
    alt
    colocatedVariants
    sortedTranscriptConsequences {
      gene_symbol
      major_consequence
      transcript_id
      canonical
      polyphen_prediction
      sift_prediction
      lof
    }
  }
}

# search with gene symbol (e.g. PCS), gene id (e.g. ENSG00000140), or transcript id (e.g. ENST00000396)
{
# Search(dataset: DatasetId!, query: String!) {
  searchResults(dataset:gnomad_r2_1 , query: "p35") {
      label
      value: url
    }
  # }
}