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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: 14-95107997-A-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=95107997&ref=A&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 95107997,
      "ref": "A",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_030621.4",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DICER1",
          "gene_hgnc_id": 17098,
          "hgvs_c": "c.2533T>A",
          "hgvs_p": "p.Leu845Met",
          "transcript": "NM_177438.3",
          "protein_id": "NP_803187.1",
          "transcript_support_level": null,
          "aa_start": 845,
          "aa_end": null,
          "aa_length": 1922,
          "cds_start": 2533,
          "cds_end": null,
          "cds_length": 5769,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000343455.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_177438.3"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DICER1",
          "gene_hgnc_id": 17098,
          "hgvs_c": "c.2533T>A",
          "hgvs_p": "p.Leu845Met",
          "transcript": "ENST00000343455.8",
          "protein_id": "ENSP00000343745.3",
          "transcript_support_level": 1,
          "aa_start": 845,
          "aa_end": null,
          "aa_length": 1922,
          "cds_start": 2533,
          "cds_end": null,
          "cds_length": 5769,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_177438.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000343455.8"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DICER1",
          "gene_hgnc_id": 17098,
          "hgvs_c": "c.2533T>A",
          "hgvs_p": "p.Leu845Met",
          "transcript": "ENST00000393063.6",
          "protein_id": "ENSP00000376783.1",
          "transcript_support_level": 1,
          "aa_start": 845,
          "aa_end": null,
          "aa_length": 1922,
          "cds_start": 2533,
          "cds_end": null,
          "cds_length": 5769,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000393063.6"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DICER1",
          "gene_hgnc_id": 17098,
          "hgvs_c": "c.2533T>A",
          "hgvs_p": "p.Leu845Met",
          "transcript": "ENST00000527414.5",
          "protein_id": "ENSP00000435681.1",
          "transcript_support_level": 1,
          "aa_start": 845,
          "aa_end": null,
          "aa_length": 1922,
          "cds_start": 2533,
          "cds_end": null,
          "cds_length": 5769,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000527414.5"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DICER1",
          "gene_hgnc_id": 17098,
          "hgvs_c": "c.2533T>A",
          "hgvs_p": "p.Leu845Met",
          "transcript": "ENST00000529720.2",
          "protein_id": "ENSP00000433926.2",
          "transcript_support_level": 1,
          "aa_start": 845,
          "aa_end": null,
          "aa_length": 1922,
          "cds_start": 2533,
          "cds_end": null,
          "cds_length": 5769,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000529720.2"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DICER1",
          "gene_hgnc_id": 17098,
          "hgvs_c": "c.2533T>A",
          "hgvs_p": "p.Leu845Met",
          "transcript": "ENST00000531162.7",
          "protein_id": "ENSP00000433060.3",
          "transcript_support_level": 1,
          "aa_start": 845,
          "aa_end": null,
          "aa_length": 1922,
          "cds_start": 2533,
          "cds_end": null,
          "cds_length": 5769,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000531162.7"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DICER1",
          "gene_hgnc_id": 17098,
          "hgvs_c": "c.2533T>A",
          "hgvs_p": "p.Leu845Met",
          "transcript": "ENST00000541352.5",
          "protein_id": "ENSP00000444719.1",
          "transcript_support_level": 1,
          "aa_start": 845,
          "aa_end": null,
          "aa_length": 1829,
          "cds_start": 2533,
          "cds_end": null,
          "cds_length": 5490,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000541352.5"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DICER1",
          "gene_hgnc_id": 17098,
          "hgvs_c": "c.2533T>A",
          "hgvs_p": "p.Leu845Met",
          "transcript": "NM_001271282.3",
          "protein_id": "NP_001258211.1",
          "transcript_support_level": null,
          "aa_start": 845,
          "aa_end": null,
          "aa_length": 1922,
          "cds_start": 2533,
          "cds_end": null,
          "cds_length": 5769,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001271282.3"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DICER1",
          "gene_hgnc_id": 17098,
          "hgvs_c": "c.2533T>A",
          "hgvs_p": "p.Leu845Met",
          "transcript": "NM_001291628.2",
          "protein_id": "NP_001278557.1",
          "transcript_support_level": null,
          "aa_start": 845,
          "aa_end": null,
          "aa_length": 1922,
          "cds_start": 2533,
          "cds_end": null,
          "cds_length": 5769,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001291628.2"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DICER1",
          "gene_hgnc_id": 17098,
          "hgvs_c": "c.2533T>A",
          "hgvs_p": "p.Leu845Met",
          "transcript": "NM_001395677.1",
          "protein_id": "NP_001382606.1",
          "transcript_support_level": null,
          "aa_start": 845,
          "aa_end": null,
          "aa_length": 1922,
          "cds_start": 2533,
          "cds_end": null,
          "cds_length": 5769,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001395677.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DICER1",
          "gene_hgnc_id": 17098,
          "hgvs_c": "c.2533T>A",
          "hgvs_p": "p.Leu845Met",
          "transcript": "NM_001395678.1",
          "protein_id": "NP_001382607.1",
          "transcript_support_level": null,
          "aa_start": 845,
          "aa_end": null,
          "aa_length": 1922,
          "cds_start": 2533,
          "cds_end": null,
          "cds_length": 5769,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001395678.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DICER1",
          "gene_hgnc_id": 17098,
          "hgvs_c": "c.2533T>A",
          "hgvs_p": "p.Leu845Met",
          "transcript": "NM_001395679.1",
          "protein_id": "NP_001382608.1",
          "transcript_support_level": null,
          "aa_start": 845,
          "aa_end": null,
          "aa_length": 1922,
          "cds_start": 2533,
          "cds_end": null,
          "cds_length": 5769,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001395679.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DICER1",
          "gene_hgnc_id": 17098,
          "hgvs_c": "c.2533T>A",
          "hgvs_p": "p.Leu845Met",
          "transcript": "NM_001395680.1",
          "protein_id": "NP_001382609.1",
          "transcript_support_level": null,
          "aa_start": 845,
          "aa_end": null,
          "aa_length": 1922,
          "cds_start": 2533,
          "cds_end": null,
          "cds_length": 5769,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001395680.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DICER1",
          "gene_hgnc_id": 17098,
          "hgvs_c": "c.2533T>A",
          "hgvs_p": "p.Leu845Met",
          "transcript": "NM_001395682.1",
          "protein_id": "NP_001382611.1",
          "transcript_support_level": null,
          "aa_start": 845,
          "aa_end": null,
          "aa_length": 1922,
          "cds_start": 2533,
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          "cdna_start": null,
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          "cdna_length": null,
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          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001395682.1"
        },
        {
          "aa_ref": "L",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DICER1",
          "gene_hgnc_id": 17098,
          "hgvs_c": "c.2533T>A",
          "hgvs_p": "p.Leu845Met",
          "transcript": "NM_001395683.1",
          "protein_id": "NP_001382612.1",
          "transcript_support_level": null,
          "aa_start": 845,
          "aa_end": null,
          "aa_length": 1922,
          "cds_start": 2533,
          "cds_end": null,
          "cds_length": 5769,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001395683.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DICER1",
          "gene_hgnc_id": 17098,
          "hgvs_c": "c.2533T>A",
          "hgvs_p": "p.Leu845Met",
          "transcript": "NM_001395684.1",
          "protein_id": "NP_001382613.1",
          "transcript_support_level": null,
          "aa_start": 845,
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          "aa_length": 1922,
          "cds_start": 2533,
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          "cds_length": 5769,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001395684.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DICER1",
          "gene_hgnc_id": 17098,
          "hgvs_c": "c.2533T>A",
          "hgvs_p": "p.Leu845Met",
          "transcript": "NM_030621.4",
          "protein_id": "NP_085124.2",
          "transcript_support_level": null,
          "aa_start": 845,
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          "cds_start": 2533,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "NM_030621.4"
        },
        {
          "aa_ref": "L",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
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          "gene_symbol": "DICER1",
          "gene_hgnc_id": 17098,
          "hgvs_c": "c.2533T>A",
          "hgvs_p": "p.Leu845Met",
          "transcript": "ENST00000526495.6",
          "protein_id": "ENSP00000437256.1",
          "transcript_support_level": 5,
          "aa_start": 845,
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          "aa_length": 1922,
          "cds_start": 2533,
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        },
        {
          "aa_ref": "L",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DICER1",
          "gene_hgnc_id": 17098,
          "hgvs_c": "c.2533T>A",
          "hgvs_p": "p.Leu845Met",
          "transcript": "ENST00000674628.2",
          "protein_id": "ENSP00000502730.2",
          "transcript_support_level": null,
          "aa_start": 845,
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          "cds_start": 2533,
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          "cds_length": 5769,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000674628.2"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DICER1",
          "gene_hgnc_id": 17098,
          "hgvs_c": "c.2533T>A",
          "hgvs_p": "p.Leu845Met",
          "transcript": "ENST00000860615.1",
          "protein_id": "ENSP00000530674.1",
          "transcript_support_level": null,
          "aa_start": 845,
          "aa_end": null,
          "aa_length": 1922,
          "cds_start": 2533,
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          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000556681.1"
        },
        {
          "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": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DICER1",
          "gene_hgnc_id": 17098,
          "hgvs_c": "n.*76T>A",
          "hgvs_p": null,
          "transcript": "ENST00000696927.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000696927.1"
        }
      ],
      "gene_symbol": "DICER1",
      "gene_hgnc_id": 17098,
      "dbsnp": "rs1182299033",
      "frequency_reference_population": 0.0000065700433,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.00000657004,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 1,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.3189692199230194,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.009999999776482582,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.455,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.1181,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.07,
      "bayesdelnoaf_prediction": "Uncertain_significance",
      "phylop100way_score": 0.974,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.01,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 3,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM1,PM2,BP4",
      "acmg_by_gene": [
        {
          "score": 3,
          "benign_score": 1,
          "pathogenic_score": 4,
          "criteria": [
            "PM1",
            "PM2",
            "BP4"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_030621.4",
          "gene_symbol": "DICER1",
          "hgnc_id": 17098,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD,Unknown",
          "hgvs_c": "c.2533T>A",
          "hgvs_p": "p.Leu845Met"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}