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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: 3-47853334-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47853334&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 47853334,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_001385682.1",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.6715G>A",
          "hgvs_p": "p.Glu2239Lys",
          "transcript": "NM_001385682.1",
          "protein_id": "NP_001372611.1",
          "transcript_support_level": null,
          "aa_start": 2239,
          "aa_end": null,
          "aa_length": 2296,
          "cds_start": 6715,
          "cds_end": null,
          "cds_length": 6891,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000683076.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001385682.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.6715G>A",
          "hgvs_p": "p.Glu2239Lys",
          "transcript": "ENST00000683076.1",
          "protein_id": "ENSP00000507895.1",
          "transcript_support_level": null,
          "aa_start": 2239,
          "aa_end": null,
          "aa_length": 2296,
          "cds_start": 6715,
          "cds_end": null,
          "cds_length": 6891,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001385682.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000683076.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.3280G>A",
          "hgvs_p": "p.Glu1094Lys",
          "transcript": "ENST00000360240.10",
          "protein_id": "ENSP00000353375.6",
          "transcript_support_level": 1,
          "aa_start": 1094,
          "aa_end": null,
          "aa_length": 1152,
          "cds_start": 3280,
          "cds_end": null,
          "cds_length": 3459,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000360240.10"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.1303G>A",
          "hgvs_p": "p.Glu435Lys",
          "transcript": "ENST00000429422.5",
          "protein_id": "ENSP00000416743.1",
          "transcript_support_level": 1,
          "aa_start": 435,
          "aa_end": null,
          "aa_length": 492,
          "cds_start": 1303,
          "cds_end": null,
          "cds_length": 1479,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000429422.5"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.6715G>A",
          "hgvs_p": "p.Glu2239Lys",
          "transcript": "ENST00000426837.6",
          "protein_id": "ENSP00000407602.2",
          "transcript_support_level": 5,
          "aa_start": 2239,
          "aa_end": null,
          "aa_length": 2297,
          "cds_start": 6715,
          "cds_end": null,
          "cds_length": 6894,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000426837.6"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.6715G>A",
          "hgvs_p": "p.Glu2239Lys",
          "transcript": "NM_001385687.1",
          "protein_id": "NP_001372616.1",
          "transcript_support_level": null,
          "aa_start": 2239,
          "aa_end": null,
          "aa_length": 2296,
          "cds_start": 6715,
          "cds_end": null,
          "cds_length": 6891,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001385687.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.6667G>A",
          "hgvs_p": "p.Glu2223Lys",
          "transcript": "ENST00000972337.1",
          "protein_id": "ENSP00000642396.1",
          "transcript_support_level": null,
          "aa_start": 2223,
          "aa_end": null,
          "aa_length": 2280,
          "cds_start": 6667,
          "cds_end": null,
          "cds_length": 6843,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000972337.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.6664G>A",
          "hgvs_p": "p.Glu2222Lys",
          "transcript": "ENST00000922519.1",
          "protein_id": "ENSP00000592578.1",
          "transcript_support_level": null,
          "aa_start": 2222,
          "aa_end": null,
          "aa_length": 2279,
          "cds_start": 6664,
          "cds_end": null,
          "cds_length": 6840,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000922519.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.6664G>A",
          "hgvs_p": "p.Glu2222Lys",
          "transcript": "ENST00000972351.1",
          "protein_id": "ENSP00000642410.1",
          "transcript_support_level": null,
          "aa_start": 2222,
          "aa_end": null,
          "aa_length": 2279,
          "cds_start": 6664,
          "cds_end": null,
          "cds_length": 6840,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000972351.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.6652G>A",
          "hgvs_p": "p.Glu2218Lys",
          "transcript": "ENST00000972333.1",
          "protein_id": "ENSP00000642392.1",
          "transcript_support_level": null,
          "aa_start": 2218,
          "aa_end": null,
          "aa_length": 2275,
          "cds_start": 6652,
          "cds_end": null,
          "cds_length": 6828,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000972333.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.6601G>A",
          "hgvs_p": "p.Glu2201Lys",
          "transcript": "NM_001385689.1",
          "protein_id": "NP_001372618.1",
          "transcript_support_level": null,
          "aa_start": 2201,
          "aa_end": null,
          "aa_length": 2258,
          "cds_start": 6601,
          "cds_end": null,
          "cds_length": 6777,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001385689.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.6601G>A",
          "hgvs_p": "p.Glu2201Lys",
          "transcript": "ENST00000972344.1",
          "protein_id": "ENSP00000642403.1",
          "transcript_support_level": null,
          "aa_start": 2201,
          "aa_end": null,
          "aa_length": 2258,
          "cds_start": 6601,
          "cds_end": null,
          "cds_length": 6777,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000972344.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.6601G>A",
          "hgvs_p": "p.Glu2201Lys",
          "transcript": "ENST00000972345.1",
          "protein_id": "ENSP00000642404.1",
          "transcript_support_level": null,
          "aa_start": 2201,
          "aa_end": null,
          "aa_length": 2258,
          "cds_start": 6601,
          "cds_end": null,
          "cds_length": 6777,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000972345.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.6601G>A",
          "hgvs_p": "p.Glu2201Lys",
          "transcript": "ENST00000972359.1",
          "protein_id": "ENSP00000642418.1",
          "transcript_support_level": null,
          "aa_start": 2201,
          "aa_end": null,
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          "cds_start": 6601,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "E",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
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          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.6550G>A",
          "hgvs_p": "p.Glu2184Lys",
          "transcript": "ENST00000972339.1",
          "protein_id": "ENSP00000642398.1",
          "transcript_support_level": null,
          "aa_start": 2184,
          "aa_end": null,
          "aa_length": 2241,
          "cds_start": 6550,
          "cds_end": null,
          "cds_length": 6726,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000972339.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.6481G>A",
          "hgvs_p": "p.Glu2161Lys",
          "transcript": "NM_001385664.1",
          "protein_id": "NP_001372593.1",
          "transcript_support_level": null,
          "aa_start": 2161,
          "aa_end": null,
          "aa_length": 2219,
          "cds_start": 6481,
          "cds_end": null,
          "cds_length": 6660,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001385664.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.6484G>A",
          "hgvs_p": "p.Glu2162Lys",
          "transcript": "NM_001385688.1",
          "protein_id": "NP_001372617.1",
          "transcript_support_level": null,
          "aa_start": 2162,
          "aa_end": null,
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          "cds_start": 6484,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "NM_001385688.1"
        },
        {
          "aa_ref": "E",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.3367G>A",
          "hgvs_p": "p.Glu1123Lys",
          "transcript": "NM_001384745.1",
          "protein_id": "NP_001371674.1",
          "transcript_support_level": null,
          "aa_start": 1123,
          "aa_end": null,
          "aa_length": 1180,
          "cds_start": 3367,
          "cds_end": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "E",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
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          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.3367G>A",
          "hgvs_p": "p.Glu1123Lys",
          "transcript": "NM_001384795.1",
          "protein_id": "NP_001371724.1",
          "transcript_support_level": null,
          "aa_start": 1123,
          "aa_end": null,
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          "cds_start": 3367,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001384795.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.3331G>A",
          "hgvs_p": "p.Glu1111Lys",
          "transcript": "NM_001384736.1",
          "protein_id": "NP_001371665.1",
          "transcript_support_level": null,
          "aa_start": 1111,
          "aa_end": null,
          "aa_length": 1169,
          "cds_start": 3331,
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        {
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          "protein_id": "ENSP00000409731.2",
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        {
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          "gene_symbol": "MAP4",
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          "hgvs_c": "c.1246-396G>A",
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          "transcript": "ENST00000335271.9",
          "protein_id": "ENSP00000334770.5",
          "transcript_support_level": 2,
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          "cds_length": 1392,
          "cdna_start": null,
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          "cdna_length": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000335271.9"
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      ],
      "gene_symbol": "MAP4",
      "gene_hgnc_id": 6862,
      "dbsnp": "rs767474005",
      "frequency_reference_population": 0.000026122685,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 42,
      "gnomad_exomes_af": 0.000024731,
      "gnomad_genomes_af": 0.0000394389,
      "gnomad_exomes_ac": 36,
      "gnomad_genomes_ac": 6,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.08922818303108215,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.072,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.1752,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.47,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 2.401,
      "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": "BP4_Moderate",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 2,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001385682.1",
          "gene_symbol": "MAP4",
          "hgnc_id": 6862,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.6715G>A",
          "hgvs_p": "p.Glu2239Lys"
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}