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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: 7-74338680-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=74338680&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 74338680,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_003388.5",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLIP2",
          "gene_hgnc_id": 2586,
          "hgvs_c": "c.354C>T",
          "hgvs_p": "p.Gly118Gly",
          "transcript": "NM_003388.5",
          "protein_id": "NP_003379.4",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 1046,
          "cds_start": 354,
          "cds_end": null,
          "cds_length": 3141,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000223398.11",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_003388.5"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLIP2",
          "gene_hgnc_id": 2586,
          "hgvs_c": "c.354C>T",
          "hgvs_p": "p.Gly118Gly",
          "transcript": "ENST00000223398.11",
          "protein_id": "ENSP00000223398.6",
          "transcript_support_level": 5,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 1046,
          "cds_start": 354,
          "cds_end": null,
          "cds_length": 3141,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_003388.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000223398.11"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLIP2",
          "gene_hgnc_id": 2586,
          "hgvs_c": "c.354C>T",
          "hgvs_p": "p.Gly118Gly",
          "transcript": "ENST00000361545.9",
          "protein_id": "ENSP00000355151.5",
          "transcript_support_level": 1,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 1011,
          "cds_start": 354,
          "cds_end": null,
          "cds_length": 3036,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000361545.9"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLIP2",
          "gene_hgnc_id": 2586,
          "hgvs_c": "c.354C>T",
          "hgvs_p": "p.Gly118Gly",
          "transcript": "ENST00000884300.1",
          "protein_id": "ENSP00000554359.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 1080,
          "cds_start": 354,
          "cds_end": null,
          "cds_length": 3243,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000884300.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLIP2",
          "gene_hgnc_id": 2586,
          "hgvs_c": "c.354C>T",
          "hgvs_p": "p.Gly118Gly",
          "transcript": "ENST00000941416.1",
          "protein_id": "ENSP00000611475.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 1065,
          "cds_start": 354,
          "cds_end": null,
          "cds_length": 3198,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000941416.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLIP2",
          "gene_hgnc_id": 2586,
          "hgvs_c": "c.354C>T",
          "hgvs_p": "p.Gly118Gly",
          "transcript": "ENST00000884301.1",
          "protein_id": "ENSP00000554360.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 1061,
          "cds_start": 354,
          "cds_end": null,
          "cds_length": 3186,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000884301.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLIP2",
          "gene_hgnc_id": 2586,
          "hgvs_c": "c.354C>T",
          "hgvs_p": "p.Gly118Gly",
          "transcript": "ENST00000930626.1",
          "protein_id": "ENSP00000600685.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 1048,
          "cds_start": 354,
          "cds_end": null,
          "cds_length": 3147,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000930626.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLIP2",
          "gene_hgnc_id": 2586,
          "hgvs_c": "c.354C>T",
          "hgvs_p": "p.Gly118Gly",
          "transcript": "ENST00000941417.1",
          "protein_id": "ENSP00000611476.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 1026,
          "cds_start": 354,
          "cds_end": null,
          "cds_length": 3081,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000941417.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLIP2",
          "gene_hgnc_id": 2586,
          "hgvs_c": "c.354C>T",
          "hgvs_p": "p.Gly118Gly",
          "transcript": "ENST00000941415.1",
          "protein_id": "ENSP00000611474.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 1024,
          "cds_start": 354,
          "cds_end": null,
          "cds_length": 3075,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000941415.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLIP2",
          "gene_hgnc_id": 2586,
          "hgvs_c": "c.354C>T",
          "hgvs_p": "p.Gly118Gly",
          "transcript": "ENST00000930628.1",
          "protein_id": "ENSP00000600687.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 1014,
          "cds_start": 354,
          "cds_end": null,
          "cds_length": 3045,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000930628.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLIP2",
          "gene_hgnc_id": 2586,
          "hgvs_c": "c.354C>T",
          "hgvs_p": "p.Gly118Gly",
          "transcript": "ENST00000941421.1",
          "protein_id": "ENSP00000611480.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 1013,
          "cds_start": 354,
          "cds_end": null,
          "cds_length": 3042,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000941421.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLIP2",
          "gene_hgnc_id": 2586,
          "hgvs_c": "c.354C>T",
          "hgvs_p": "p.Gly118Gly",
          "transcript": "NM_032421.3",
          "protein_id": "NP_115797.2",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 1011,
          "cds_start": 354,
          "cds_end": null,
          "cds_length": 3036,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_032421.3"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLIP2",
          "gene_hgnc_id": 2586,
          "hgvs_c": "c.354C>T",
          "hgvs_p": "p.Gly118Gly",
          "transcript": "ENST00000884298.1",
          "protein_id": "ENSP00000554357.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 1011,
          "cds_start": 354,
          "cds_end": null,
          "cds_length": 3036,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000884298.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLIP2",
          "gene_hgnc_id": 2586,
          "hgvs_c": "c.354C>T",
          "hgvs_p": "p.Gly118Gly",
          "transcript": "ENST00000884299.1",
          "protein_id": "ENSP00000554358.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 1011,
          "cds_start": 354,
          "cds_end": null,
          "cds_length": 3036,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000884299.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLIP2",
          "gene_hgnc_id": 2586,
          "hgvs_c": "c.354C>T",
          "hgvs_p": "p.Gly118Gly",
          "transcript": "ENST00000930627.1",
          "protein_id": "ENSP00000600686.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 1011,
          "cds_start": 354,
          "cds_end": null,
          "cds_length": 3036,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000930627.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLIP2",
          "gene_hgnc_id": 2586,
          "hgvs_c": "c.354C>T",
          "hgvs_p": "p.Gly118Gly",
          "transcript": "ENST00000941414.1",
          "protein_id": "ENSP00000611473.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 1011,
          "cds_start": 354,
          "cds_end": null,
          "cds_length": 3036,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000941414.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLIP2",
          "gene_hgnc_id": 2586,
          "hgvs_c": "c.354C>T",
          "hgvs_p": "p.Gly118Gly",
          "transcript": "ENST00000941423.1",
          "protein_id": "ENSP00000611482.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 1011,
          "cds_start": 354,
          "cds_end": null,
          "cds_length": 3036,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000941423.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLIP2",
          "gene_hgnc_id": 2586,
          "hgvs_c": "c.354C>T",
          "hgvs_p": "p.Gly118Gly",
          "transcript": "ENST00000930629.1",
          "protein_id": "ENSP00000600688.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 1010,
          "cds_start": 354,
          "cds_end": null,
          "cds_length": 3033,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000930629.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLIP2",
          "gene_hgnc_id": 2586,
          "hgvs_c": "c.354C>T",
          "hgvs_p": "p.Gly118Gly",
          "transcript": "ENST00000941419.1",
          "protein_id": "ENSP00000611478.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 988,
          "cds_start": 354,
          "cds_end": null,
          "cds_length": 2967,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000941419.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLIP2",
          "gene_hgnc_id": 2586,
          "hgvs_c": "c.354C>T",
          "hgvs_p": "p.Gly118Gly",
          "transcript": "ENST00000930630.1",
          "protein_id": "ENSP00000600689.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 984,
          "cds_start": 354,
          "cds_end": null,
          "cds_length": 2955,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000930630.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLIP2",
          "gene_hgnc_id": 2586,
          "hgvs_c": "c.354C>T",
          "hgvs_p": "p.Gly118Gly",
          "transcript": "ENST00000941422.1",
          "protein_id": "ENSP00000611481.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 975,
          "cds_start": 354,
          "cds_end": null,
          "cds_length": 2928,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000941422.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLIP2",
          "gene_hgnc_id": 2586,
          "hgvs_c": "c.354C>T",
          "hgvs_p": "p.Gly118Gly",
          "transcript": "ENST00000941420.1",
          "protein_id": "ENSP00000611479.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 956,
          "cds_start": 354,
          "cds_end": null,
          "cds_length": 2871,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000941420.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLIP2",
          "gene_hgnc_id": 2586,
          "hgvs_c": "c.354C>T",
          "hgvs_p": "p.Gly118Gly",
          "transcript": "ENST00000941418.1",
          "protein_id": "ENSP00000611477.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 839,
          "cds_start": 354,
          "cds_end": null,
          "cds_length": 2520,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000941418.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLIP2",
          "gene_hgnc_id": 2586,
          "hgvs_c": "c.354C>T",
          "hgvs_p": "p.Gly118Gly",
          "transcript": "XM_047420800.1",
          "protein_id": "XP_047276756.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 868,
          "cds_start": 354,
          "cds_end": null,
          "cds_length": 2607,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420800.1"
        }
      ],
      "gene_symbol": "CLIP2",
      "gene_hgnc_id": 2586,
      "dbsnp": "rs782724514",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": 0,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 0,
      "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": 0.019999999552965164,
      "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": -0.007,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.02,
      "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": -5,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
      "acmg_by_gene": [
        {
          "score": -5,
          "benign_score": 7,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP6_Moderate",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_003388.5",
          "gene_symbol": "CLIP2",
          "hgnc_id": 2586,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.354C>T",
          "hgvs_p": "p.Gly118Gly"
        }
      ],
      "clinvar_disease": "not provided",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "not provided",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}