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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: 9-34655663-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=34655663&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 34655663,
      "ref": "C",
      "alt": "G",
      "effect": "splice_region_variant,synonymous_variant",
      "transcript": "NM_001142784.3",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL11RA",
          "gene_hgnc_id": 5967,
          "hgvs_c": "c.159C>G",
          "hgvs_p": "p.Ala53Ala",
          "transcript": "NM_001142784.3",
          "protein_id": "NP_001136256.1",
          "transcript_support_level": null,
          "aa_start": 53,
          "aa_end": null,
          "aa_length": 422,
          "cds_start": 159,
          "cds_end": null,
          "cds_length": 1269,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000441545.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001142784.3"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL11RA",
          "gene_hgnc_id": 5967,
          "hgvs_c": "c.159C>G",
          "hgvs_p": "p.Ala53Ala",
          "transcript": "ENST00000441545.7",
          "protein_id": "ENSP00000394391.3",
          "transcript_support_level": 5,
          "aa_start": 53,
          "aa_end": null,
          "aa_length": 422,
          "cds_start": 159,
          "cds_end": null,
          "cds_length": 1269,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001142784.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000441545.7"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL11RA",
          "gene_hgnc_id": 5967,
          "hgvs_c": "c.159C>G",
          "hgvs_p": "p.Ala53Ala",
          "transcript": "ENST00000318041.13",
          "protein_id": "ENSP00000326500.8",
          "transcript_support_level": 1,
          "aa_start": 53,
          "aa_end": null,
          "aa_length": 422,
          "cds_start": 159,
          "cds_end": null,
          "cds_length": 1269,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000318041.13"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL11RA",
          "gene_hgnc_id": 5967,
          "hgvs_c": "c.159C>G",
          "hgvs_p": "p.Ala53Ala",
          "transcript": "ENST00000602473.5",
          "protein_id": "ENSP00000473647.1",
          "transcript_support_level": 1,
          "aa_start": 53,
          "aa_end": null,
          "aa_length": 390,
          "cds_start": 159,
          "cds_end": null,
          "cds_length": 1173,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000602473.5"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000258728",
          "gene_hgnc_id": null,
          "hgvs_c": "c.591C>G",
          "hgvs_p": "p.Ala197Ala",
          "transcript": "ENST00000556278.1",
          "protein_id": "ENSP00000451792.1",
          "transcript_support_level": 5,
          "aa_start": 197,
          "aa_end": null,
          "aa_length": 279,
          "cds_start": 591,
          "cds_end": null,
          "cds_length": 842,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000556278.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL11RA",
          "gene_hgnc_id": 5967,
          "hgvs_c": "c.208C>G",
          "hgvs_p": "p.Arg70Gly",
          "transcript": "ENST00000957059.1",
          "protein_id": "ENSP00000627118.1",
          "transcript_support_level": null,
          "aa_start": 70,
          "aa_end": null,
          "aa_length": 477,
          "cds_start": 208,
          "cds_end": null,
          "cds_length": 1434,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000957059.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL11RA",
          "gene_hgnc_id": 5967,
          "hgvs_c": "c.159C>G",
          "hgvs_p": "p.Ala53Ala",
          "transcript": "ENST00000957054.1",
          "protein_id": "ENSP00000627113.1",
          "transcript_support_level": null,
          "aa_start": 53,
          "aa_end": null,
          "aa_length": 430,
          "cds_start": 159,
          "cds_end": null,
          "cds_length": 1293,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000957054.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL11RA",
          "gene_hgnc_id": 5967,
          "hgvs_c": "c.174C>G",
          "hgvs_p": "p.Ala58Ala",
          "transcript": "ENST00000902566.1",
          "protein_id": "ENSP00000572625.1",
          "transcript_support_level": null,
          "aa_start": 58,
          "aa_end": null,
          "aa_length": 427,
          "cds_start": 174,
          "cds_end": null,
          "cds_length": 1284,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000902566.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL11RA",
          "gene_hgnc_id": 5967,
          "hgvs_c": "c.174C>G",
          "hgvs_p": "p.Ala58Ala",
          "transcript": "ENST00000957061.1",
          "protein_id": "ENSP00000627120.1",
          "transcript_support_level": null,
          "aa_start": 58,
          "aa_end": null,
          "aa_length": 427,
          "cds_start": 174,
          "cds_end": null,
          "cds_length": 1284,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000957061.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL11RA",
          "gene_hgnc_id": 5967,
          "hgvs_c": "c.159C>G",
          "hgvs_p": "p.Ala53Ala",
          "transcript": "ENST00000555003.6",
          "protein_id": "ENSP00000450565.2",
          "transcript_support_level": 2,
          "aa_start": 53,
          "aa_end": null,
          "aa_length": 426,
          "cds_start": 159,
          "cds_end": null,
          "cds_length": 1281,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000555003.6"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL11RA",
          "gene_hgnc_id": 5967,
          "hgvs_c": "c.159C>G",
          "hgvs_p": "p.Ala53Ala",
          "transcript": "ENST00000902558.1",
          "protein_id": "ENSP00000572617.1",
          "transcript_support_level": null,
          "aa_start": 53,
          "aa_end": null,
          "aa_length": 426,
          "cds_start": 159,
          "cds_end": null,
          "cds_length": 1281,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000902558.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL11RA",
          "gene_hgnc_id": 5967,
          "hgvs_c": "c.171C>G",
          "hgvs_p": "p.Ala57Ala",
          "transcript": "ENST00000902560.1",
          "protein_id": "ENSP00000572619.1",
          "transcript_support_level": null,
          "aa_start": 57,
          "aa_end": null,
          "aa_length": 426,
          "cds_start": 171,
          "cds_end": null,
          "cds_length": 1281,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000902560.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL11RA",
          "gene_hgnc_id": 5967,
          "hgvs_c": "c.159C>G",
          "hgvs_p": "p.Ala53Ala",
          "transcript": "ENST00000902561.1",
          "protein_id": "ENSP00000572620.1",
          "transcript_support_level": null,
          "aa_start": 53,
          "aa_end": null,
          "aa_length": 426,
          "cds_start": 159,
          "cds_end": null,
          "cds_length": 1281,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000902561.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL11RA",
          "gene_hgnc_id": 5967,
          "hgvs_c": "c.171C>G",
          "hgvs_p": "p.Ala57Ala",
          "transcript": "ENST00000902569.1",
          "protein_id": "ENSP00000572628.1",
          "transcript_support_level": null,
          "aa_start": 57,
          "aa_end": null,
          "aa_length": 426,
          "cds_start": 171,
          "cds_end": null,
          "cds_length": 1281,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000902569.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL11RA",
          "gene_hgnc_id": 5967,
          "hgvs_c": "c.159C>G",
          "hgvs_p": "p.Ala53Ala",
          "transcript": "ENST00000902571.1",
          "protein_id": "ENSP00000572629.1",
          "transcript_support_level": null,
          "aa_start": 53,
          "aa_end": null,
          "aa_length": 426,
          "cds_start": 159,
          "cds_end": null,
          "cds_length": 1281,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000902571.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL11RA",
          "gene_hgnc_id": 5967,
          "hgvs_c": "c.159C>G",
          "hgvs_p": "p.Ala53Ala",
          "transcript": "ENST00000957058.1",
          "protein_id": "ENSP00000627117.1",
          "transcript_support_level": null,
          "aa_start": 53,
          "aa_end": null,
          "aa_length": 426,
          "cds_start": 159,
          "cds_end": null,
          "cds_length": 1281,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000957058.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL11RA",
          "gene_hgnc_id": 5967,
          "hgvs_c": "c.159C>G",
          "hgvs_p": "p.Ala53Ala",
          "transcript": "ENST00000957065.1",
          "protein_id": "ENSP00000627124.1",
          "transcript_support_level": null,
          "aa_start": 53,
          "aa_end": null,
          "aa_length": 426,
          "cds_start": 159,
          "cds_end": null,
          "cds_length": 1281,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000957065.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL11RA",
          "gene_hgnc_id": 5967,
          "hgvs_c": "c.159C>G",
          "hgvs_p": "p.Ala53Ala",
          "transcript": "ENST00000957051.1",
          "protein_id": "ENSP00000627110.1",
          "transcript_support_level": null,
          "aa_start": 53,
          "aa_end": null,
          "aa_length": 425,
          "cds_start": 159,
          "cds_end": null,
          "cds_length": 1278,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000957051.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL11RA",
          "gene_hgnc_id": 5967,
          "hgvs_c": "c.159C>G",
          "hgvs_p": "p.Ala53Ala",
          "transcript": "ENST00000957053.1",
          "protein_id": "ENSP00000627112.1",
          "transcript_support_level": null,
          "aa_start": 53,
          "aa_end": null,
          "aa_length": 424,
          "cds_start": 159,
          "cds_end": null,
          "cds_length": 1275,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000957053.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IL11RA",
          "gene_hgnc_id": 5967,
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          "transcript_support_level": null,
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          "cds_start": null,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "NR_052010.2"
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
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          "gene_symbol": "ENSG00000258728",
          "gene_hgnc_id": null,
          "hgvs_c": "n.*2544C>G",
          "hgvs_p": null,
          "transcript": "ENST00000691183.1",
          "protein_id": "ENSP00000509954.1",
          "transcript_support_level": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000691183.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "IL11RA",
          "gene_hgnc_id": 5967,
          "hgvs_c": "n.100+346C>G",
          "hgvs_p": null,
          "transcript": "ENST00000555247.5",
          "protein_id": "ENSP00000450707.1",
          "transcript_support_level": 5,
          "aa_start": null,
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          "cds_start": null,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000555247.5"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 10,
          "intron_rank": 2,
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          "gene_symbol": "IL11RA",
          "gene_hgnc_id": 5967,
          "hgvs_c": "n.100+346C>G",
          "hgvs_p": null,
          "transcript": "ENST00000692788.1",
          "protein_id": "ENSP00000510222.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": null,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000692788.1"
        }
      ],
      "gene_symbol": "IL11RA",
      "gene_hgnc_id": 5967,
      "dbsnp": "rs571523950",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.5,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.00800000037997961,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "dbscSNV1_RF",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.5,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.257,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.07,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": 0.000117607119322967,
      "dbscsnv_ada_prediction": "Benign",
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -3,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong,BP7",
      "acmg_by_gene": [
        {
          "score": -3,
          "benign_score": 5,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001142784.3",
          "gene_symbol": "IL11RA",
          "hgnc_id": 5967,
          "effects": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.159C>G",
          "hgvs_p": "p.Ala53Ala"
        },
        {
          "score": -3,
          "benign_score": 5,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000556278.1",
          "gene_symbol": "ENSG00000258728",
          "hgnc_id": null,
          "effects": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.591C>G",
          "hgvs_p": "p.Ala197Ala"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}