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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: 1-9722133-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=9722133&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 9722133,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_005026.5",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIK3CD",
          "gene_hgnc_id": 8977,
          "hgvs_c": "c.2214C>T",
          "hgvs_p": "p.Ser738Ser",
          "transcript": "NM_005026.5",
          "protein_id": "NP_005017.3",
          "transcript_support_level": null,
          "aa_start": 738,
          "aa_end": null,
          "aa_length": 1044,
          "cds_start": 2214,
          "cds_end": null,
          "cds_length": 3135,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000377346.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_005026.5"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIK3CD",
          "gene_hgnc_id": 8977,
          "hgvs_c": "c.2214C>T",
          "hgvs_p": "p.Ser738Ser",
          "transcript": "ENST00000377346.9",
          "protein_id": "ENSP00000366563.4",
          "transcript_support_level": 1,
          "aa_start": 738,
          "aa_end": null,
          "aa_length": 1044,
          "cds_start": 2214,
          "cds_end": null,
          "cds_length": 3135,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_005026.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000377346.9"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIK3CD",
          "gene_hgnc_id": 8977,
          "hgvs_c": "c.2286C>T",
          "hgvs_p": "p.Ser762Ser",
          "transcript": "ENST00000361110.6",
          "protein_id": "ENSP00000354410.2",
          "transcript_support_level": 1,
          "aa_start": 762,
          "aa_end": null,
          "aa_length": 1068,
          "cds_start": 2286,
          "cds_end": null,
          "cds_length": 3207,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000361110.6"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIK3CD",
          "gene_hgnc_id": 8977,
          "hgvs_c": "c.2391C>T",
          "hgvs_p": "p.Ser797Ser",
          "transcript": "ENST00000892288.1",
          "protein_id": "ENSP00000562347.1",
          "transcript_support_level": null,
          "aa_start": 797,
          "aa_end": null,
          "aa_length": 1103,
          "cds_start": 2391,
          "cds_end": null,
          "cds_length": 3312,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892288.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIK3CD",
          "gene_hgnc_id": 8977,
          "hgvs_c": "c.2391C>T",
          "hgvs_p": "p.Ser797Ser",
          "transcript": "ENST00000960482.1",
          "protein_id": "ENSP00000630541.1",
          "transcript_support_level": null,
          "aa_start": 797,
          "aa_end": null,
          "aa_length": 1103,
          "cds_start": 2391,
          "cds_end": null,
          "cds_length": 3312,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960482.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIK3CD",
          "gene_hgnc_id": 8977,
          "hgvs_c": "c.2214C>T",
          "hgvs_p": "p.Ser738Ser",
          "transcript": "NM_001437546.1",
          "protein_id": "NP_001424475.1",
          "transcript_support_level": null,
          "aa_start": 738,
          "aa_end": null,
          "aa_length": 1044,
          "cds_start": 2214,
          "cds_end": null,
          "cds_length": 3135,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001437546.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIK3CD",
          "gene_hgnc_id": 8977,
          "hgvs_c": "c.2214C>T",
          "hgvs_p": "p.Ser738Ser",
          "transcript": "ENST00000698712.1",
          "protein_id": "ENSP00000513889.1",
          "transcript_support_level": null,
          "aa_start": 738,
          "aa_end": null,
          "aa_length": 1044,
          "cds_start": 2214,
          "cds_end": null,
          "cds_length": 3135,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000698712.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIK3CD",
          "gene_hgnc_id": 8977,
          "hgvs_c": "c.2214C>T",
          "hgvs_p": "p.Ser738Ser",
          "transcript": "ENST00000698713.1",
          "protein_id": "ENSP00000513890.1",
          "transcript_support_level": null,
          "aa_start": 738,
          "aa_end": null,
          "aa_length": 1044,
          "cds_start": 2214,
          "cds_end": null,
          "cds_length": 3135,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000698713.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIK3CD",
          "gene_hgnc_id": 8977,
          "hgvs_c": "c.2214C>T",
          "hgvs_p": "p.Ser738Ser",
          "transcript": "ENST00000892287.1",
          "protein_id": "ENSP00000562346.1",
          "transcript_support_level": null,
          "aa_start": 738,
          "aa_end": null,
          "aa_length": 1044,
          "cds_start": 2214,
          "cds_end": null,
          "cds_length": 3135,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892287.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIK3CD",
          "gene_hgnc_id": 8977,
          "hgvs_c": "c.2214C>T",
          "hgvs_p": "p.Ser738Ser",
          "transcript": "ENST00000892289.1",
          "protein_id": "ENSP00000562348.1",
          "transcript_support_level": null,
          "aa_start": 738,
          "aa_end": null,
          "aa_length": 1044,
          "cds_start": 2214,
          "cds_end": null,
          "cds_length": 3135,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892289.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIK3CD",
          "gene_hgnc_id": 8977,
          "hgvs_c": "c.2214C>T",
          "hgvs_p": "p.Ser738Ser",
          "transcript": "ENST00000932635.1",
          "protein_id": "ENSP00000602694.1",
          "transcript_support_level": null,
          "aa_start": 738,
          "aa_end": null,
          "aa_length": 1044,
          "cds_start": 2214,
          "cds_end": null,
          "cds_length": 3135,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000932635.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIK3CD",
          "gene_hgnc_id": 8977,
          "hgvs_c": "c.2214C>T",
          "hgvs_p": "p.Ser738Ser",
          "transcript": "ENST00000932636.1",
          "protein_id": "ENSP00000602695.1",
          "transcript_support_level": null,
          "aa_start": 738,
          "aa_end": null,
          "aa_length": 1044,
          "cds_start": 2214,
          "cds_end": null,
          "cds_length": 3135,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000932636.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIK3CD",
          "gene_hgnc_id": 8977,
          "hgvs_c": "c.2214C>T",
          "hgvs_p": "p.Ser738Ser",
          "transcript": "ENST00000932638.1",
          "protein_id": "ENSP00000602697.1",
          "transcript_support_level": null,
          "aa_start": 738,
          "aa_end": null,
          "aa_length": 1044,
          "cds_start": 2214,
          "cds_end": null,
          "cds_length": 3135,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000932638.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIK3CD",
          "gene_hgnc_id": 8977,
          "hgvs_c": "c.2214C>T",
          "hgvs_p": "p.Ser738Ser",
          "transcript": "ENST00000960479.1",
          "protein_id": "ENSP00000630538.1",
          "transcript_support_level": null,
          "aa_start": 738,
          "aa_end": null,
          "aa_length": 1044,
          "cds_start": 2214,
          "cds_end": null,
          "cds_length": 3135,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960479.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIK3CD",
          "gene_hgnc_id": 8977,
          "hgvs_c": "c.2214C>T",
          "hgvs_p": "p.Ser738Ser",
          "transcript": "ENST00000960481.1",
          "protein_id": "ENSP00000630540.1",
          "transcript_support_level": null,
          "aa_start": 738,
          "aa_end": null,
          "aa_length": 1044,
          "cds_start": 2214,
          "cds_end": null,
          "cds_length": 3135,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960481.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIK3CD",
          "gene_hgnc_id": 8977,
          "hgvs_c": "c.2211C>T",
          "hgvs_p": "p.Ser737Ser",
          "transcript": "NM_001350234.2",
          "protein_id": "NP_001337163.1",
          "transcript_support_level": null,
          "aa_start": 737,
          "aa_end": null,
          "aa_length": 1043,
          "cds_start": 2211,
          "cds_end": null,
          "cds_length": 3132,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001350234.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIK3CD",
          "gene_hgnc_id": 8977,
          "hgvs_c": "c.2211C>T",
          "hgvs_p": "p.Ser737Ser",
          "transcript": "NM_001439206.1",
          "protein_id": "NP_001426135.1",
          "transcript_support_level": null,
          "aa_start": 737,
          "aa_end": null,
          "aa_length": 1043,
          "cds_start": 2211,
          "cds_end": null,
          "cds_length": 3132,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001439206.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIK3CD",
          "gene_hgnc_id": 8977,
          "hgvs_c": "c.2211C>T",
          "hgvs_p": "p.Ser737Ser",
          "transcript": "ENST00000698710.1",
          "protein_id": "ENSP00000513888.1",
          "transcript_support_level": null,
          "aa_start": 737,
          "aa_end": null,
          "aa_length": 1043,
          "cds_start": 2211,
          "cds_end": null,
          "cds_length": 3132,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000698710.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIK3CD",
          "gene_hgnc_id": 8977,
          "hgvs_c": "c.2211C>T",
          "hgvs_p": "p.Ser737Ser",
          "transcript": "ENST00000698715.1",
          "protein_id": "ENSP00000513892.1",
          "transcript_support_level": null,
          "aa_start": 737,
          "aa_end": null,
          "aa_length": 1043,
          "cds_start": 2211,
          "cds_end": null,
          "cds_length": 3132,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000698715.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIK3CD",
          "gene_hgnc_id": 8977,
          "hgvs_c": "c.2211C>T",
          "hgvs_p": "p.Ser737Ser",
          "transcript": "ENST00000932637.1",
          "protein_id": "ENSP00000602696.1",
          "transcript_support_level": null,
          "aa_start": 737,
          "aa_end": null,
          "aa_length": 1043,
          "cds_start": 2211,
          "cds_end": null,
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            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIK3CD",
          "gene_hgnc_id": 8977,
          "hgvs_c": "n.516C>T",
          "hgvs_p": null,
          "transcript": "ENST00000698719.1",
          "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": "retained_intron",
          "feature": "ENST00000698719.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIK3CD",
          "gene_hgnc_id": 8977,
          "hgvs_c": "n.*1468C>T",
          "hgvs_p": null,
          "transcript": "ENST00000481137.2",
          "protein_id": "ENSP00000513886.1",
          "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": "ENST00000481137.2"
        }
      ],
      "gene_symbol": "PIK3CD",
      "gene_hgnc_id": 8977,
      "dbsnp": "rs755934302",
      "frequency_reference_population": 0.000016429107,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 24,
      "gnomad_exomes_af": 0.0000164291,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 24,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.4699999988079071,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.009999999776482582,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.47,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 2.761,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.01,
      "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": -4,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -4,
          "benign_score": 4,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_005026.5",
          "gene_symbol": "PIK3CD",
          "hgnc_id": 8977,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD,AR,Unknown",
          "hgvs_c": "c.2214C>T",
          "hgvs_p": "p.Ser738Ser"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}