← Back to variant description

GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 14-60018213-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=60018213&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 60018213,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "NM_001355272.3",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "LRRC9",
          "gene_hgnc_id": 19848,
          "hgvs_c": "c.3318-158C>T",
          "hgvs_p": null,
          "transcript": "NM_001395648.1",
          "protein_id": "NP_001382577.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1494,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4485,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000570145.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001395648.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "LRRC9",
          "gene_hgnc_id": 19848,
          "hgvs_c": "c.3318-158C>T",
          "hgvs_p": null,
          "transcript": "ENST00000570145.2",
          "protein_id": "ENSP00000457773.2",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1494,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4485,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001395648.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000570145.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "LRRC9",
          "gene_hgnc_id": 19848,
          "hgvs_c": "c.3318-158C>T",
          "hgvs_p": null,
          "transcript": "NM_001355272.3",
          "protein_id": "NP_001342201.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1494,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4485,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001355272.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "LRRC9",
          "gene_hgnc_id": 19848,
          "hgvs_c": "c.3318-158C>T",
          "hgvs_p": null,
          "transcript": "ENST00000647410.1",
          "protein_id": "ENSP00000493790.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1494,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4485,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000647410.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "LRRC9",
          "gene_hgnc_id": 19848,
          "hgvs_c": "c.3318-158C>T",
          "hgvs_p": null,
          "transcript": "ENST00000445360.5",
          "protein_id": "ENSP00000454748.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1453,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4362,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000445360.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "LRRC9",
          "gene_hgnc_id": 19848,
          "hgvs_c": "c.3318-158C>T",
          "hgvs_p": null,
          "transcript": "XM_024449563.2",
          "protein_id": "XP_024305331.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1494,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4485,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_024449563.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "LRRC9",
          "gene_hgnc_id": 19848,
          "hgvs_c": "c.3318-158C>T",
          "hgvs_p": null,
          "transcript": "XM_024449564.2",
          "protein_id": "XP_024305332.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1494,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4485,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_024449564.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "LRRC9",
          "gene_hgnc_id": 19848,
          "hgvs_c": "c.3318-158C>T",
          "hgvs_p": null,
          "transcript": "XM_024449565.2",
          "protein_id": "XP_024305333.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1494,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4485,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_024449565.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "LRRC9",
          "gene_hgnc_id": 19848,
          "hgvs_c": "c.3318-158C>T",
          "hgvs_p": null,
          "transcript": "XM_024449566.2",
          "protein_id": "XP_024305334.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1475,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4428,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_024449566.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": 23,
          "intron_rank_end": null,
          "gene_symbol": "LRRC9",
          "gene_hgnc_id": 19848,
          "hgvs_c": "c.3186-158C>T",
          "hgvs_p": null,
          "transcript": "XM_024449567.2",
          "protein_id": "XP_024305335.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1450,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4353,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_024449567.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": 23,
          "intron_rank_end": null,
          "gene_symbol": "LRRC9",
          "gene_hgnc_id": 19848,
          "hgvs_c": "c.3186-158C>T",
          "hgvs_p": null,
          "transcript": "XM_024449568.2",
          "protein_id": "XP_024305336.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1450,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4353,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_024449568.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "LRRC9",
          "gene_hgnc_id": 19848,
          "hgvs_c": "c.3318-158C>T",
          "hgvs_p": null,
          "transcript": "XM_024449569.1",
          "protein_id": "XP_024305337.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1426,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4281,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_024449569.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "LRRC9",
          "gene_hgnc_id": 19848,
          "hgvs_c": "c.3318-158C>T",
          "hgvs_p": null,
          "transcript": "XM_024449570.1",
          "protein_id": "XP_024305338.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1331,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3996,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_024449570.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": 22,
          "intron_rank_end": null,
          "gene_symbol": "LRRC9",
          "gene_hgnc_id": 19848,
          "hgvs_c": "c.2583-158C>T",
          "hgvs_p": null,
          "transcript": "XM_047431345.1",
          "protein_id": "XP_047287301.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1249,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3750,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047431345.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "LRRC9",
          "gene_hgnc_id": 19848,
          "hgvs_c": "n.3318-133C>T",
          "hgvs_p": null,
          "transcript": "ENST00000254271.8",
          "protein_id": "ENSP00000454848.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000254271.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PCNX4-DT",
          "gene_hgnc_id": 55447,
          "hgvs_c": "n.219+12083G>A",
          "hgvs_p": null,
          "transcript": "ENST00000554123.2",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000554123.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PCNX4-DT",
          "gene_hgnc_id": 55447,
          "hgvs_c": "n.153+12083G>A",
          "hgvs_p": null,
          "transcript": "ENST00000555432.5",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000555432.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PCNX4-DT",
          "gene_hgnc_id": 55447,
          "hgvs_c": "n.399+12083G>A",
          "hgvs_p": null,
          "transcript": "ENST00000823211.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000823211.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PCNX4-DT",
          "gene_hgnc_id": 55447,
          "hgvs_c": "n.227+12083G>A",
          "hgvs_p": null,
          "transcript": "ENST00000823212.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000823212.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PCNX4-DT",
          "gene_hgnc_id": 55447,
          "hgvs_c": "n.406+12083G>A",
          "hgvs_p": null,
          "transcript": "ENST00000823213.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000823213.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PCNX4-DT",
          "gene_hgnc_id": 55447,
          "hgvs_c": "n.215+12083G>A",
          "hgvs_p": null,
          "transcript": "ENST00000823214.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000823214.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PCNX4-DT",
          "gene_hgnc_id": 55447,
          "hgvs_c": "n.282+12083G>A",
          "hgvs_p": null,
          "transcript": "ENST00000823215.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000823215.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PCNX4-DT",
          "gene_hgnc_id": 55447,
          "hgvs_c": "n.334+12083G>A",
          "hgvs_p": null,
          "transcript": "ENST00000823216.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000823216.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PCNX4-DT",
          "gene_hgnc_id": 55447,
          "hgvs_c": "n.198-6953G>A",
          "hgvs_p": null,
          "transcript": "ENST00000823218.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000823218.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PCNX4-DT",
          "gene_hgnc_id": 55447,
          "hgvs_c": "n.203+39369G>A",
          "hgvs_p": null,
          "transcript": "ENST00000823219.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000823219.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PCNX4-DT",
          "gene_hgnc_id": 55447,
          "hgvs_c": "n.316+12083G>A",
          "hgvs_p": null,
          "transcript": "ENST00000823220.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000823220.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PCNX4-DT",
          "gene_hgnc_id": 55447,
          "hgvs_c": "n.235+12083G>A",
          "hgvs_p": null,
          "transcript": "ENST00000823221.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000823221.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "LRRC9",
          "gene_hgnc_id": 19848,
          "hgvs_c": "n.3522-133C>T",
          "hgvs_p": null,
          "transcript": "NR_075071.3",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "NR_075071.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "LRRC9",
          "gene_hgnc_id": 19848,
          "hgvs_c": "n.3522-158C>T",
          "hgvs_p": null,
          "transcript": "XR_002957549.2",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "XR_002957549.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "LRRC9",
          "gene_hgnc_id": 19848,
          "hgvs_c": "n.3522-158C>T",
          "hgvs_p": null,
          "transcript": "XR_002957550.2",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "XR_002957550.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PCNX4-DT",
          "gene_hgnc_id": 55447,
          "hgvs_c": "n.262-6953G>A",
          "hgvs_p": null,
          "transcript": "XR_007064197.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "XR_007064197.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PCNX4-DT",
          "gene_hgnc_id": 55447,
          "hgvs_c": "n.128-6953G>A",
          "hgvs_p": null,
          "transcript": "XR_007064198.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "XR_007064198.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PCNX4-DT",
          "gene_hgnc_id": 55447,
          "hgvs_c": "n.197-6953G>A",
          "hgvs_p": null,
          "transcript": "XR_007064199.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "XR_007064199.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PCNX4-DT",
          "gene_hgnc_id": 55447,
          "hgvs_c": "n.261+12083G>A",
          "hgvs_p": null,
          "transcript": "XR_943918.4",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "XR_943918.4"
        }
      ],
      "gene_symbol": "LRRC9",
      "gene_hgnc_id": 19848,
      "dbsnp": "rs219391",
      "frequency_reference_population": 0.7920131,
      "hom_count_reference_population": 179202,
      "allele_count_reference_population": 440486,
      "gnomad_exomes_af": 0.808946,
      "gnomad_genomes_af": 0.746924,
      "gnomad_exomes_ac": 327073,
      "gnomad_genomes_ac": 113413,
      "gnomad_exomes_homalt": 134744,
      "gnomad_genomes_homalt": 44458,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8299999833106995,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.83,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.015,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_001355272.3",
          "gene_symbol": "LRRC9",
          "hgnc_id": 19848,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.3318-158C>T",
          "hgvs_p": null
        },
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000554123.2",
          "gene_symbol": "PCNX4-DT",
          "hgnc_id": 55447,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.219+12083G>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}