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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: 6-130052891-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=130052891&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 130052891,
      "ref": "A",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_032438.4",
      "consequences": [
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "L3MBTL3",
          "gene_hgnc_id": 23035,
          "hgvs_c": "c.482A>G",
          "hgvs_p": "p.Asp161Gly",
          "transcript": "NM_032438.4",
          "protein_id": "NP_115814.1",
          "transcript_support_level": null,
          "aa_start": 161,
          "aa_end": null,
          "aa_length": 780,
          "cds_start": 482,
          "cds_end": null,
          "cds_length": 2343,
          "cdna_start": 660,
          "cdna_end": null,
          "cdna_length": 4206,
          "mane_select": "ENST00000361794.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_032438.4"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "L3MBTL3",
          "gene_hgnc_id": 23035,
          "hgvs_c": "c.482A>G",
          "hgvs_p": "p.Asp161Gly",
          "transcript": "ENST00000361794.7",
          "protein_id": "ENSP00000354526.2",
          "transcript_support_level": 5,
          "aa_start": 161,
          "aa_end": null,
          "aa_length": 780,
          "cds_start": 482,
          "cds_end": null,
          "cds_length": 2343,
          "cdna_start": 660,
          "cdna_end": null,
          "cdna_length": 4206,
          "mane_select": "NM_032438.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000361794.7"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "L3MBTL3",
          "gene_hgnc_id": 23035,
          "hgvs_c": "c.407A>G",
          "hgvs_p": "p.Asp136Gly",
          "transcript": "ENST00000533560.5",
          "protein_id": "ENSP00000437185.1",
          "transcript_support_level": 1,
          "aa_start": 136,
          "aa_end": null,
          "aa_length": 755,
          "cds_start": 407,
          "cds_end": null,
          "cds_length": 2268,
          "cdna_start": 577,
          "cdna_end": null,
          "cdna_length": 3165,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000533560.5"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "L3MBTL3",
          "gene_hgnc_id": 23035,
          "hgvs_c": "c.587A>G",
          "hgvs_p": "p.Asp196Gly",
          "transcript": "ENST00000858931.1",
          "protein_id": "ENSP00000528990.1",
          "transcript_support_level": null,
          "aa_start": 196,
          "aa_end": null,
          "aa_length": 815,
          "cds_start": 587,
          "cds_end": null,
          "cds_length": 2448,
          "cdna_start": 737,
          "cdna_end": null,
          "cdna_length": 3334,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000858931.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "L3MBTL3",
          "gene_hgnc_id": 23035,
          "hgvs_c": "c.587A>G",
          "hgvs_p": "p.Asp196Gly",
          "transcript": "ENST00000966136.1",
          "protein_id": "ENSP00000636195.1",
          "transcript_support_level": null,
          "aa_start": 196,
          "aa_end": null,
          "aa_length": 815,
          "cds_start": 587,
          "cds_end": null,
          "cds_length": 2448,
          "cdna_start": 1292,
          "cdna_end": null,
          "cdna_length": 4837,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000966136.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "L3MBTL3",
          "gene_hgnc_id": 23035,
          "hgvs_c": "c.482A>G",
          "hgvs_p": "p.Asp161Gly",
          "transcript": "ENST00000368136.3",
          "protein_id": "ENSP00000357118.2",
          "transcript_support_level": 5,
          "aa_start": 161,
          "aa_end": null,
          "aa_length": 780,
          "cds_start": 482,
          "cds_end": null,
          "cds_length": 2343,
          "cdna_start": 688,
          "cdna_end": null,
          "cdna_length": 4245,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000368136.3"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "L3MBTL3",
          "gene_hgnc_id": 23035,
          "hgvs_c": "c.482A>G",
          "hgvs_p": "p.Asp161Gly",
          "transcript": "ENST00000858923.1",
          "protein_id": "ENSP00000528982.1",
          "transcript_support_level": null,
          "aa_start": 161,
          "aa_end": null,
          "aa_length": 780,
          "cds_start": 482,
          "cds_end": null,
          "cds_length": 2343,
          "cdna_start": 774,
          "cdna_end": null,
          "cdna_length": 4320,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000858923.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "L3MBTL3",
          "gene_hgnc_id": 23035,
          "hgvs_c": "c.482A>G",
          "hgvs_p": "p.Asp161Gly",
          "transcript": "ENST00000858926.1",
          "protein_id": "ENSP00000528985.1",
          "transcript_support_level": null,
          "aa_start": 161,
          "aa_end": null,
          "aa_length": 780,
          "cds_start": 482,
          "cds_end": null,
          "cds_length": 2343,
          "cdna_start": 780,
          "cdna_end": null,
          "cdna_length": 4328,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000858926.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "L3MBTL3",
          "gene_hgnc_id": 23035,
          "hgvs_c": "c.482A>G",
          "hgvs_p": "p.Asp161Gly",
          "transcript": "ENST00000858929.1",
          "protein_id": "ENSP00000528988.1",
          "transcript_support_level": null,
          "aa_start": 161,
          "aa_end": null,
          "aa_length": 780,
          "cds_start": 482,
          "cds_end": null,
          "cds_length": 2343,
          "cdna_start": 763,
          "cdna_end": null,
          "cdna_length": 4309,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000858929.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "L3MBTL3",
          "gene_hgnc_id": 23035,
          "hgvs_c": "c.482A>G",
          "hgvs_p": "p.Asp161Gly",
          "transcript": "ENST00000858930.1",
          "protein_id": "ENSP00000528989.1",
          "transcript_support_level": null,
          "aa_start": 161,
          "aa_end": null,
          "aa_length": 780,
          "cds_start": 482,
          "cds_end": null,
          "cds_length": 2343,
          "cdna_start": 753,
          "cdna_end": null,
          "cdna_length": 3350,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000858930.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "L3MBTL3",
          "gene_hgnc_id": 23035,
          "hgvs_c": "c.482A>G",
          "hgvs_p": "p.Asp161Gly",
          "transcript": "ENST00000858933.1",
          "protein_id": "ENSP00000528992.1",
          "transcript_support_level": null,
          "aa_start": 161,
          "aa_end": null,
          "aa_length": 780,
          "cds_start": 482,
          "cds_end": null,
          "cds_length": 2343,
          "cdna_start": 662,
          "cdna_end": null,
          "cdna_length": 3251,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000858933.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "L3MBTL3",
          "gene_hgnc_id": 23035,
          "hgvs_c": "c.482A>G",
          "hgvs_p": "p.Asp161Gly",
          "transcript": "ENST00000858934.1",
          "protein_id": "ENSP00000528993.1",
          "transcript_support_level": null,
          "aa_start": 161,
          "aa_end": null,
          "aa_length": 780,
          "cds_start": 482,
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          "cds_length": 2343,
          "cdna_start": 1379,
          "cdna_end": null,
          "cdna_length": 3948,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "L3MBTL3",
          "gene_hgnc_id": 23035,
          "hgvs_c": "c.407A>G",
          "hgvs_p": "p.Asp136Gly",
          "transcript": "NM_001007102.4",
          "protein_id": "NP_001007103.1",
          "transcript_support_level": null,
          "aa_start": 136,
          "aa_end": null,
          "aa_length": 755,
          "cds_start": 407,
          "cds_end": null,
          "cds_length": 2268,
          "cdna_start": 585,
          "cdna_end": null,
          "cdna_length": 4131,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001007102.4"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "L3MBTL3",
          "gene_hgnc_id": 23035,
          "hgvs_c": "c.407A>G",
          "hgvs_p": "p.Asp136Gly",
          "transcript": "NM_001346550.2",
          "protein_id": "NP_001333479.1",
          "transcript_support_level": null,
          "aa_start": 136,
          "aa_end": null,
          "aa_length": 755,
          "cds_start": 407,
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          "cdna_start": 571,
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          "cdna_length": 4117,
          "mane_select": null,
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        },
        {
          "aa_ref": "D",
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          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "L3MBTL3",
          "gene_hgnc_id": 23035,
          "hgvs_c": "c.407A>G",
          "hgvs_p": "p.Asp136Gly",
          "transcript": "NM_001346551.2",
          "protein_id": "NP_001333480.1",
          "transcript_support_level": null,
          "aa_start": 136,
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          "cds_start": 407,
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          "cds_length": 2268,
          "cdna_start": 679,
          "cdna_end": null,
          "cdna_length": 4225,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001346551.2"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "L3MBTL3",
          "gene_hgnc_id": 23035,
          "hgvs_c": "c.407A>G",
          "hgvs_p": "p.Asp136Gly",
          "transcript": "ENST00000368139.6",
          "protein_id": "ENSP00000357121.2",
          "transcript_support_level": 5,
          "aa_start": 136,
          "aa_end": null,
          "aa_length": 755,
          "cds_start": 407,
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          "cdna_start": 600,
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          "cdna_length": 4148,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000368139.6"
        },
        {
          "aa_ref": "D",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "L3MBTL3",
          "gene_hgnc_id": 23035,
          "hgvs_c": "c.407A>G",
          "hgvs_p": "p.Asp136Gly",
          "transcript": "ENST00000526019.5",
          "protein_id": "ENSP00000436706.1",
          "transcript_support_level": 5,
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          "cdna_start": 650,
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          "biotype": "protein_coding",
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        },
        {
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          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
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          "gene_symbol": "L3MBTL3",
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          "hgvs_c": "c.407A>G",
          "hgvs_p": "p.Asp136Gly",
          "transcript": "ENST00000858924.1",
          "protein_id": "ENSP00000528983.1",
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          "cds_start": 407,
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          "cdna_start": 683,
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          "cdna_length": 4229,
          "mane_select": null,
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          "biotype": "protein_coding",
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        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 22,
          "intron_rank": null,
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          "gene_symbol": "L3MBTL3",
          "gene_hgnc_id": 23035,
          "hgvs_c": "c.407A>G",
          "hgvs_p": "p.Asp136Gly",
          "transcript": "ENST00000858925.1",
          "protein_id": "ENSP00000528984.1",
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          "cds_start": 407,
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          "cdna_start": 648,
          "cdna_end": null,
          "cdna_length": 4194,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000858925.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "L3MBTL3",
          "gene_hgnc_id": 23035,
          "hgvs_c": "c.407A>G",
          "hgvs_p": "p.Asp136Gly",
          "transcript": "ENST00000858927.1",
          "protein_id": "ENSP00000528986.1",
          "transcript_support_level": null,
          "aa_start": 136,
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          "cds_start": 407,
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          "cds_length": 2268,
          "cdna_start": 704,
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          "aa_start": 136,
          "aa_end": null,
          "aa_length": 755,
          "cds_start": 407,
          "cds_end": null,
          "cds_length": 2268,
          "cdna_start": 665,
          "cdna_end": null,
          "cdna_length": 4211,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047419410.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "L3MBTL3",
          "gene_hgnc_id": 23035,
          "hgvs_c": "c.407A>G",
          "hgvs_p": "p.Asp136Gly",
          "transcript": "XM_047419412.1",
          "protein_id": "XP_047275368.1",
          "transcript_support_level": null,
          "aa_start": 136,
          "aa_end": null,
          "aa_length": 755,
          "cds_start": 407,
          "cds_end": null,
          "cds_length": 2268,
          "cdna_start": 634,
          "cdna_end": null,
          "cdna_length": 4180,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047419412.1"
        }
      ],
      "gene_symbol": "L3MBTL3",
      "gene_hgnc_id": 23035,
      "dbsnp": "rs547093963",
      "frequency_reference_population": 0.0000037173984,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 6,
      "gnomad_exomes_af": 0.00000273657,
      "gnomad_genomes_af": 0.0000131277,
      "gnomad_exomes_ac": 4,
      "gnomad_genomes_ac": 2,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.036383360624313354,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.009999999776482582,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.08,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.0741,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.38,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 2.843,
      "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": -4,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -4,
          "benign_score": 4,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_032438.4",
          "gene_symbol": "L3MBTL3",
          "hgnc_id": 23035,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.482A>G",
          "hgvs_p": "p.Asp161Gly"
        }
      ],
      "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
}
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