← 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: 6-5734974-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=5734974&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 5734974,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "NM_006567.5",
      "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": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "NM_006567.5",
          "protein_id": "NP_006558.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000274680.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_006567.5"
        },
        {
          "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": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "ENST00000274680.9",
          "protein_id": "ENSP00000274680.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_006567.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000274680.9"
        },
        {
          "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": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "ENST00000324331.10",
          "protein_id": "ENSP00000316335.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000324331.10"
        },
        {
          "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": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "NM_001318872.2",
          "protein_id": "NP_001305801.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001318872.2"
        },
        {
          "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": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "NM_001374875.1",
          "protein_id": "NP_001361804.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001374875.1"
        },
        {
          "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": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "NM_001374876.1",
          "protein_id": "NP_001361805.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001374876.1"
        },
        {
          "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": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "NM_001374877.1",
          "protein_id": "NP_001361806.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001374877.1"
        },
        {
          "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": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "NM_001374878.1",
          "protein_id": "NP_001361807.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001374878.1"
        },
        {
          "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": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "NM_001374879.1",
          "protein_id": "NP_001361808.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001374879.1"
        },
        {
          "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": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "NM_001375257.1",
          "protein_id": "NP_001362186.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375257.1"
        },
        {
          "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": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "ENST00000897566.1",
          "protein_id": "ENSP00000567625.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000897566.1"
        },
        {
          "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": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "ENST00000897567.1",
          "protein_id": "ENSP00000567626.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000897567.1"
        },
        {
          "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": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "ENST00000897568.1",
          "protein_id": "ENSP00000567627.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000897568.1"
        },
        {
          "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": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "ENST00000897570.1",
          "protein_id": "ENSP00000567629.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000897570.1"
        },
        {
          "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": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "ENST00000897571.1",
          "protein_id": "ENSP00000567630.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000897571.1"
        },
        {
          "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": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "ENST00000897572.1",
          "protein_id": "ENSP00000567631.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000897572.1"
        },
        {
          "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": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "ENST00000897573.1",
          "protein_id": "ENSP00000567632.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000897573.1"
        },
        {
          "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": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "ENST00000897574.1",
          "protein_id": "ENSP00000567633.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000897574.1"
        },
        {
          "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": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "ENST00000897575.1",
          "protein_id": "ENSP00000567634.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000897575.1"
        },
        {
          "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": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "ENST00000897576.1",
          "protein_id": "ENSP00000567635.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000897576.1"
        },
        {
          "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": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "ENST00000897577.1",
          "protein_id": "ENSP00000567636.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000897577.1"
        },
        {
          "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": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "ENST00000897580.1",
          "protein_id": "ENSP00000567639.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000897580.1"
        },
        {
          "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": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "ENST00000897581.1",
          "protein_id": "ENSP00000567640.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000897581.1"
        },
        {
          "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": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "ENST00000897582.1",
          "protein_id": "ENSP00000567641.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000897582.1"
        },
        {
          "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": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "ENST00000937582.1",
          "protein_id": "ENSP00000607641.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000937582.1"
        },
        {
          "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": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "ENST00000937583.1",
          "protein_id": "ENSP00000607642.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000937583.1"
        },
        {
          "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": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "ENST00000937584.1",
          "protein_id": "ENSP00000607643.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000937584.1"
        },
        {
          "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": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "ENST00000937585.1",
          "protein_id": "ENSP00000607644.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000937585.1"
        },
        {
          "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": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "ENST00000954686.1",
          "protein_id": "ENSP00000624745.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000954686.1"
        },
        {
          "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": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "ENST00000954687.1",
          "protein_id": "ENSP00000624746.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000954687.1"
        },
        {
          "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": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "ENST00000954688.1",
          "protein_id": "ENSP00000624747.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000954688.1"
        },
        {
          "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": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "ENST00000954689.1",
          "protein_id": "ENSP00000624748.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000954689.1"
        },
        {
          "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": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1206-36317C>T",
          "hgvs_p": null,
          "transcript": "ENST00000897569.1",
          "protein_id": "ENSP00000567628.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 447,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1344,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000897569.1"
        },
        {
          "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": 6,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1086-36317C>T",
          "hgvs_p": null,
          "transcript": "NM_001375258.1",
          "protein_id": "NP_001362187.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 407,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1224,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375258.1"
        },
        {
          "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": 6,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1086-36317C>T",
          "hgvs_p": null,
          "transcript": "ENST00000897578.1",
          "protein_id": "ENSP00000567637.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 407,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1224,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000897578.1"
        },
        {
          "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": 6,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1086-36317C>T",
          "hgvs_p": null,
          "transcript": "ENST00000897579.1",
          "protein_id": "ENSP00000567638.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 407,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1224,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000897579.1"
        },
        {
          "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": 6,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.522-36317C>T",
          "hgvs_p": null,
          "transcript": "NM_001375259.1",
          "protein_id": "NP_001362188.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 219,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 660,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375259.1"
        },
        {
          "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": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.522-36317C>T",
          "hgvs_p": null,
          "transcript": "NM_001375260.1",
          "protein_id": "NP_001362189.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 219,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 660,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375260.1"
        },
        {
          "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": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "c.1218-36317C>T",
          "hgvs_p": null,
          "transcript": "XM_047418086.1",
          "protein_id": "XP_047274042.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047418086.1"
        },
        {
          "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": 9,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "FARS2",
          "gene_hgnc_id": 21062,
          "hgvs_c": "n.1218-86734C>T",
          "hgvs_p": null,
          "transcript": "ENST00000648580.1",
          "protein_id": "ENSP00000497889.1",
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000648580.1"
        }
      ],
      "gene_symbol": "FARS2",
      "gene_hgnc_id": 21062,
      "dbsnp": "rs6597161",
      "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": -0.8399999737739563,
      "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": -0.84,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -1.186,
      "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": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_006567.5",
          "gene_symbol": "FARS2",
          "hgnc_id": 21062,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1218-36317C>T",
          "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
}