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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: 21-25897642-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=25897642&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "21",
      "pos": 25897642,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_000484.4",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APP",
          "gene_hgnc_id": 620,
          "hgvs_c": "c.1995G>A",
          "hgvs_p": "p.Glu665Glu",
          "transcript": "NM_000484.4",
          "protein_id": "NP_000475.1",
          "transcript_support_level": null,
          "aa_start": 665,
          "aa_end": null,
          "aa_length": 770,
          "cds_start": 1995,
          "cds_end": null,
          "cds_length": 2313,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000346798.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000484.4"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APP",
          "gene_hgnc_id": 620,
          "hgvs_c": "c.1995G>A",
          "hgvs_p": "p.Glu665Glu",
          "transcript": "ENST00000346798.8",
          "protein_id": "ENSP00000284981.4",
          "transcript_support_level": 1,
          "aa_start": 665,
          "aa_end": null,
          "aa_length": 770,
          "cds_start": 1995,
          "cds_end": null,
          "cds_length": 2313,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_000484.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000346798.8"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APP",
          "gene_hgnc_id": 620,
          "hgvs_c": "c.1938G>A",
          "hgvs_p": "p.Glu646Glu",
          "transcript": "ENST00000357903.7",
          "protein_id": "ENSP00000350578.3",
          "transcript_support_level": 1,
          "aa_start": 646,
          "aa_end": null,
          "aa_length": 751,
          "cds_start": 1938,
          "cds_end": null,
          "cds_length": 2256,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000357903.7"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APP",
          "gene_hgnc_id": 620,
          "hgvs_c": "c.1827G>A",
          "hgvs_p": "p.Glu609Glu",
          "transcript": "ENST00000439274.6",
          "protein_id": "ENSP00000398879.2",
          "transcript_support_level": 1,
          "aa_start": 609,
          "aa_end": null,
          "aa_length": 714,
          "cds_start": 1827,
          "cds_end": null,
          "cds_length": 2145,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000439274.6"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APP",
          "gene_hgnc_id": 620,
          "hgvs_c": "c.1770G>A",
          "hgvs_p": "p.Glu590Glu",
          "transcript": "ENST00000348990.9",
          "protein_id": "ENSP00000345463.5",
          "transcript_support_level": 1,
          "aa_start": 590,
          "aa_end": null,
          "aa_length": 695,
          "cds_start": 1770,
          "cds_end": null,
          "cds_length": 2088,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000348990.9"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APP",
          "gene_hgnc_id": 620,
          "hgvs_c": "c.1602G>A",
          "hgvs_p": "p.Glu534Glu",
          "transcript": "ENST00000354192.7",
          "protein_id": "ENSP00000346129.3",
          "transcript_support_level": 1,
          "aa_start": 534,
          "aa_end": null,
          "aa_length": 639,
          "cds_start": 1602,
          "cds_end": null,
          "cds_length": 1920,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000354192.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APP",
          "gene_hgnc_id": 620,
          "hgvs_c": "n.342G>A",
          "hgvs_p": null,
          "transcript": "ENST00000464867.1",
          "protein_id": null,
          "transcript_support_level": 1,
          "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": "ENST00000464867.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APP",
          "gene_hgnc_id": 620,
          "hgvs_c": "c.1986G>A",
          "hgvs_p": "p.Glu662Glu",
          "transcript": "ENST00000932837.1",
          "protein_id": "ENSP00000602896.1",
          "transcript_support_level": null,
          "aa_start": 662,
          "aa_end": null,
          "aa_length": 767,
          "cds_start": 1986,
          "cds_end": null,
          "cds_length": 2304,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000932837.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APP",
          "gene_hgnc_id": 620,
          "hgvs_c": "c.1971G>A",
          "hgvs_p": "p.Glu657Glu",
          "transcript": "ENST00000872535.1",
          "protein_id": "ENSP00000542594.1",
          "transcript_support_level": null,
          "aa_start": 657,
          "aa_end": null,
          "aa_length": 762,
          "cds_start": 1971,
          "cds_end": null,
          "cds_length": 2289,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872535.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APP",
          "gene_hgnc_id": 620,
          "hgvs_c": "c.1941G>A",
          "hgvs_p": "p.Glu647Glu",
          "transcript": "NM_001204301.2",
          "protein_id": "NP_001191230.1",
          "transcript_support_level": null,
          "aa_start": 647,
          "aa_end": null,
          "aa_length": 752,
          "cds_start": 1941,
          "cds_end": null,
          "cds_length": 2259,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001204301.2"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APP",
          "gene_hgnc_id": 620,
          "hgvs_c": "c.1941G>A",
          "hgvs_p": "p.Glu647Glu",
          "transcript": "ENST00000358918.7",
          "protein_id": "ENSP00000351796.3",
          "transcript_support_level": 5,
          "aa_start": 647,
          "aa_end": null,
          "aa_length": 752,
          "cds_start": 1941,
          "cds_end": null,
          "cds_length": 2259,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000358918.7"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APP",
          "gene_hgnc_id": 620,
          "hgvs_c": "c.1938G>A",
          "hgvs_p": "p.Glu646Glu",
          "transcript": "NM_201413.3",
          "protein_id": "NP_958816.1",
          "transcript_support_level": null,
          "aa_start": 646,
          "aa_end": null,
          "aa_length": 751,
          "cds_start": 1938,
          "cds_end": null,
          "cds_length": 2256,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_201413.3"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APP",
          "gene_hgnc_id": 620,
          "hgvs_c": "c.1929G>A",
          "hgvs_p": "p.Glu643Glu",
          "transcript": "ENST00000872530.1",
          "protein_id": "ENSP00000542589.1",
          "transcript_support_level": null,
          "aa_start": 643,
          "aa_end": null,
          "aa_length": 748,
          "cds_start": 1929,
          "cds_end": null,
          "cds_length": 2247,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872530.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APP",
          "gene_hgnc_id": 620,
          "hgvs_c": "c.1926G>A",
          "hgvs_p": "p.Glu642Glu",
          "transcript": "ENST00000965081.1",
          "protein_id": "ENSP00000635140.1",
          "transcript_support_level": null,
          "aa_start": 642,
          "aa_end": null,
          "aa_length": 747,
          "cds_start": 1926,
          "cds_end": null,
          "cds_length": 2244,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965081.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APP",
          "gene_hgnc_id": 620,
          "hgvs_c": "c.1923G>A",
          "hgvs_p": "p.Glu641Glu",
          "transcript": "NM_001136016.3",
          "protein_id": "NP_001129488.1",
          "transcript_support_level": null,
          "aa_start": 641,
          "aa_end": null,
          "aa_length": 746,
          "cds_start": 1923,
          "cds_end": null,
          "cds_length": 2241,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001136016.3"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APP",
          "gene_hgnc_id": 620,
          "hgvs_c": "c.1923G>A",
          "hgvs_p": "p.Glu641Glu",
          "transcript": "ENST00000440126.7",
          "protein_id": "ENSP00000387483.2",
          "transcript_support_level": 2,
          "aa_start": 641,
          "aa_end": null,
          "aa_length": 746,
          "cds_start": 1923,
          "cds_end": null,
          "cds_length": 2241,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000440126.7"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APP",
          "gene_hgnc_id": 620,
          "hgvs_c": "c.1920G>A",
          "hgvs_p": "p.Glu640Glu",
          "transcript": "ENST00000872526.1",
          "protein_id": "ENSP00000542585.1",
          "transcript_support_level": null,
          "aa_start": 640,
          "aa_end": null,
          "aa_length": 745,
          "cds_start": 1920,
          "cds_end": null,
          "cds_length": 2238,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872526.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APP",
          "gene_hgnc_id": 620,
          "hgvs_c": "c.1884G>A",
          "hgvs_p": "p.Glu628Glu",
          "transcript": "NM_001204302.2",
          "protein_id": "NP_001191231.1",
          "transcript_support_level": null,
          "aa_start": 628,
          "aa_end": null,
          "aa_length": 733,
          "cds_start": 1884,
          "cds_end": null,
          "cds_length": 2202,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001204302.2"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APP",
          "gene_hgnc_id": 620,
          "hgvs_c": "c.1884G>A",
          "hgvs_p": "p.Glu628Glu",
          "transcript": "ENST00000872524.1",
          "protein_id": "ENSP00000542583.1",
          "transcript_support_level": null,
          "aa_start": 628,
          "aa_end": null,
          "aa_length": 733,
          "cds_start": 1884,
          "cds_end": null,
          "cds_length": 2202,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872524.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APP",
          "gene_hgnc_id": 620,
          "hgvs_c": "c.1866G>A",
          "hgvs_p": "p.Glu622Glu",
          "transcript": "ENST00000965080.1",
          "protein_id": "ENSP00000635139.1",
          "transcript_support_level": null,
          "aa_start": 622,
          "aa_end": null,
          "aa_length": 727,
          "cds_start": 1866,
          "cds_end": null,
          "cds_length": 2184,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965080.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
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          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APP",
          "gene_hgnc_id": 620,
          "hgvs_c": "n.392G>A",
          "hgvs_p": null,
          "transcript": "ENST00000707133.1",
          "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": "pseudogene",
          "feature": "ENST00000707133.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APP",
          "gene_hgnc_id": 620,
          "hgvs_c": "n.661G>A",
          "hgvs_p": null,
          "transcript": "ENST00000707134.1",
          "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": "pseudogene",
          "feature": "ENST00000707134.1"
        }
      ],
      "gene_symbol": "APP",
      "gene_hgnc_id": 620,
      "dbsnp": "rs63750363",
      "frequency_reference_population": 6.841761e-7,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": 6.84176e-7,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 1,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.3700000047683716,
      "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": -0.37,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.923,
      "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": -1,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Moderate,BP7",
      "acmg_by_gene": [
        {
          "score": -1,
          "benign_score": 3,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_000484.4",
          "gene_symbol": "APP",
          "hgnc_id": 620,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.1995G>A",
          "hgvs_p": "p.Glu665Glu"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}