← 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: 4-157364445-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=157364445&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "4",
      "pos": 157364445,
      "ref": "T",
      "alt": "C",
      "effect": "3_prime_UTR_variant",
      "transcript": "ENST00000264426.14",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GRIA2",
          "gene_hgnc_id": 4572,
          "hgvs_c": "c.*1014T>C",
          "hgvs_p": null,
          "transcript": "NM_001083619.3",
          "protein_id": "NP_001077088.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 883,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2652,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5611,
          "mane_select": "ENST00000264426.14",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GRIA2",
          "gene_hgnc_id": 4572,
          "hgvs_c": "c.*1014T>C",
          "hgvs_p": null,
          "transcript": "ENST00000264426.14",
          "protein_id": "ENSP00000264426.9",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 883,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2652,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5611,
          "mane_select": "NM_001083619.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GRIA2",
          "gene_hgnc_id": 4572,
          "hgvs_c": "c.*1014T>C",
          "hgvs_p": null,
          "transcript": "ENST00000296526.12",
          "protein_id": "ENSP00000296526.7",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 883,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2652,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5611,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GRIA2",
          "gene_hgnc_id": 4572,
          "hgvs_c": "c.*1014T>C",
          "hgvs_p": null,
          "transcript": "ENST00000393815.6",
          "protein_id": "ENSP00000377403.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 836,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2511,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5260,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GRIA2",
          "gene_hgnc_id": 4572,
          "hgvs_c": "n.*1225T>C",
          "hgvs_p": null,
          "transcript": "ENST00000703751.1",
          "protein_id": "ENSP00000515460.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5682,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GRIA2",
          "gene_hgnc_id": 4572,
          "hgvs_c": "n.5242T>C",
          "hgvs_p": null,
          "transcript": "XR_007096394.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6872,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GRIA2",
          "gene_hgnc_id": 4572,
          "hgvs_c": "c.*1014T>C",
          "hgvs_p": null,
          "transcript": "NM_000826.6",
          "protein_id": "NP_000817.5",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 883,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2652,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5611,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GRIA2",
          "gene_hgnc_id": 4572,
          "hgvs_c": "c.*1014T>C",
          "hgvs_p": null,
          "transcript": "NM_001083620.3",
          "protein_id": "NP_001077089.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 836,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2511,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5315,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GRIA2",
          "gene_hgnc_id": 4572,
          "hgvs_c": "c.*1014T>C",
          "hgvs_p": null,
          "transcript": "NM_001379000.3",
          "protein_id": "NP_001365929.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 836,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2511,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5233,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GRIA2",
          "gene_hgnc_id": 4572,
          "hgvs_c": "c.*1014T>C",
          "hgvs_p": null,
          "transcript": "NM_001379001.3",
          "protein_id": "NP_001365930.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 836,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2511,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5243,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GRIA2",
          "gene_hgnc_id": 4572,
          "hgvs_c": "c.*1014T>C",
          "hgvs_p": null,
          "transcript": "ENST00000703717.1",
          "protein_id": "ENSP00000515446.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 836,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2511,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5409,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GRIA2",
          "gene_hgnc_id": 4572,
          "hgvs_c": "c.*1014T>C",
          "hgvs_p": null,
          "transcript": "ENST00000703765.1",
          "protein_id": "ENSP00000515472.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 836,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2511,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3896,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GRIA2",
          "gene_hgnc_id": 4572,
          "hgvs_c": "c.*1014T>C",
          "hgvs_p": null,
          "transcript": "ENST00000703718.1",
          "protein_id": "ENSP00000515447.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 803,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2412,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3810,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GRIA2",
          "gene_hgnc_id": 4572,
          "hgvs_c": "c.*1014T>C",
          "hgvs_p": null,
          "transcript": "ENST00000703719.1",
          "protein_id": "ENSP00000515448.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 738,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2217,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4702,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GRIA2",
          "gene_hgnc_id": 4572,
          "hgvs_c": "c.*846T>C",
          "hgvs_p": null,
          "transcript": "ENST00000703768.1",
          "protein_id": "ENSP00000515475.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 561,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1686,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2610,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GRIA2",
          "gene_hgnc_id": 4572,
          "hgvs_c": "c.*846T>C",
          "hgvs_p": null,
          "transcript": "ENST00000703761.1",
          "protein_id": "ENSP00000515469.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 690,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1944,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GRIA2",
          "gene_hgnc_id": 4572,
          "hgvs_c": "n.*1225T>C",
          "hgvs_p": null,
          "transcript": "ENST00000703751.1",
          "protein_id": "ENSP00000515460.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5682,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GRIA2",
          "gene_hgnc_id": 4572,
          "hgvs_c": "c.*1014T>C",
          "hgvs_p": null,
          "transcript": "XM_047450131.1",
          "protein_id": "XP_047306087.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 836,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2511,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5243,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 17,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "GRIA2",
          "gene_hgnc_id": 4572,
          "hgvs_c": "n.*120+894T>C",
          "hgvs_p": null,
          "transcript": "ENST00000703754.1",
          "protein_id": "ENSP00000515463.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3763,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GRIA2",
          "gene_hgnc_id": 4572,
          "hgvs_c": "c.*1401T>C",
          "hgvs_p": null,
          "transcript": "ENST00000703760.1",
          "protein_id": "ENSP00000515468.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 892,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2679,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4179,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GRIA2",
          "gene_hgnc_id": 4572,
          "hgvs_c": "c.*1014T>C",
          "hgvs_p": null,
          "transcript": "ENST00000703767.1",
          "protein_id": "ENSP00000515474.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 756,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2271,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4265,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GRIA2",
          "gene_hgnc_id": 4572,
          "hgvs_c": "n.*158T>C",
          "hgvs_p": null,
          "transcript": "ENST00000471736.5",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5377,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GRIA2",
          "gene_hgnc_id": 4572,
          "hgvs_c": "n.*1952T>C",
          "hgvs_p": null,
          "transcript": "ENST00000703756.1",
          "protein_id": "ENSP00000515465.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3787,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GRIA2",
          "gene_hgnc_id": 4572,
          "hgvs_c": "n.*206T>C",
          "hgvs_p": null,
          "transcript": "ENST00000703758.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6325,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GRIA2",
          "gene_hgnc_id": 4572,
          "hgvs_c": "n.*247T>C",
          "hgvs_p": null,
          "transcript": "ENST00000703770.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1913,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "GRIA2",
      "gene_hgnc_id": 4572,
      "dbsnp": "rs4403097",
      "frequency_reference_population": 0.45121434,
      "hom_count_reference_population": 18679,
      "allele_count_reference_population": 68294,
      "gnomad_exomes_af": 0.588889,
      "gnomad_genomes_af": 0.451132,
      "gnomad_exomes_ac": 53,
      "gnomad_genomes_ac": 68241,
      "gnomad_exomes_homalt": 13,
      "gnomad_genomes_homalt": 18666,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8999999761581421,
      "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": -0.9,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.185,
      "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": "ENST00000264426.14",
          "gene_symbol": "GRIA2",
          "hgnc_id": 4572,
          "effects": [
            "3_prime_UTR_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.*1014T>C",
          "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
}