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GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 7-108167037-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=108167037&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 108167037,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_001037132.4",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3350C>T",
          "hgvs_p": "p.Ser1117Phe",
          "transcript": "NM_001037132.4",
          "protein_id": "NP_001032209.1",
          "transcript_support_level": null,
          "aa_start": 1117,
          "aa_end": null,
          "aa_length": 1304,
          "cds_start": 3350,
          "cds_end": null,
          "cds_length": 3915,
          "cdna_start": 3875,
          "cdna_end": null,
          "cdna_length": 6701,
          "mane_select": "ENST00000379028.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "F",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3350C>T",
          "hgvs_p": "p.Ser1117Phe",
          "transcript": "ENST00000379028.8",
          "protein_id": "ENSP00000368314.3",
          "transcript_support_level": 5,
          "aa_start": 1117,
          "aa_end": null,
          "aa_length": 1304,
          "cds_start": 3350,
          "cds_end": null,
          "cds_length": 3915,
          "cdna_start": 3875,
          "cdna_end": null,
          "cdna_length": 6701,
          "mane_select": "NM_001037132.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3131-6545C>T",
          "hgvs_p": null,
          "transcript": "ENST00000379024.8",
          "protein_id": "ENSP00000368310.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1192,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3579,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5782,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": 25,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3104-6545C>T",
          "hgvs_p": null,
          "transcript": "ENST00000351718.8",
          "protein_id": "ENSP00000325269.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1183,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3552,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6228,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3359C>T",
          "hgvs_p": "p.Ser1120Phe",
          "transcript": "NM_001371156.1",
          "protein_id": "NP_001358085.1",
          "transcript_support_level": null,
          "aa_start": 1120,
          "aa_end": null,
          "aa_length": 1307,
          "cds_start": 3359,
          "cds_end": null,
          "cds_length": 3924,
          "cdna_start": 3884,
          "cdna_end": null,
          "cdna_length": 6710,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3350C>T",
          "hgvs_p": "p.Ser1117Phe",
          "transcript": "NM_001371131.1",
          "protein_id": "NP_001358060.1",
          "transcript_support_level": null,
          "aa_start": 1117,
          "aa_end": null,
          "aa_length": 1304,
          "cds_start": 3350,
          "cds_end": null,
          "cds_length": 3915,
          "cdna_start": 3956,
          "cdna_end": null,
          "cdna_length": 6782,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3314C>T",
          "hgvs_p": "p.Ser1105Phe",
          "transcript": "NM_001371169.1",
          "protein_id": "NP_001358098.1",
          "transcript_support_level": null,
          "aa_start": 1105,
          "aa_end": null,
          "aa_length": 1292,
          "cds_start": 3314,
          "cds_end": null,
          "cds_length": 3879,
          "cdna_start": 3839,
          "cdna_end": null,
          "cdna_length": 6665,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3302C>T",
          "hgvs_p": "p.Ser1101Phe",
          "transcript": "NM_001371119.1",
          "protein_id": "NP_001358048.1",
          "transcript_support_level": null,
          "aa_start": 1101,
          "aa_end": null,
          "aa_length": 1288,
          "cds_start": 3302,
          "cds_end": null,
          "cds_length": 3867,
          "cdna_start": 3684,
          "cdna_end": null,
          "cdna_length": 6510,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3293C>T",
          "hgvs_p": "p.Ser1098Phe",
          "transcript": "NM_001371124.1",
          "protein_id": "NP_001358053.1",
          "transcript_support_level": null,
          "aa_start": 1098,
          "aa_end": null,
          "aa_length": 1285,
          "cds_start": 3293,
          "cds_end": null,
          "cds_length": 3858,
          "cdna_start": 3675,
          "cdna_end": null,
          "cdna_length": 6501,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3293C>T",
          "hgvs_p": "p.Ser1098Phe",
          "transcript": "NM_001371126.1",
          "protein_id": "NP_001358055.1",
          "transcript_support_level": null,
          "aa_start": 1098,
          "aa_end": null,
          "aa_length": 1285,
          "cds_start": 3293,
          "cds_end": null,
          "cds_length": 3858,
          "cdna_start": 3972,
          "cdna_end": null,
          "cdna_length": 6798,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3293C>T",
          "hgvs_p": "p.Ser1098Phe",
          "transcript": "NM_001371172.1",
          "protein_id": "NP_001358101.1",
          "transcript_support_level": null,
          "aa_start": 1098,
          "aa_end": null,
          "aa_length": 1285,
          "cds_start": 3293,
          "cds_end": null,
          "cds_length": 3858,
          "cdna_start": 3818,
          "cdna_end": null,
          "cdna_length": 6644,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3257C>T",
          "hgvs_p": "p.Ser1086Phe",
          "transcript": "NM_001371146.1",
          "protein_id": "NP_001358075.1",
          "transcript_support_level": null,
          "aa_start": 1086,
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          "aa_length": 1273,
          "cds_start": 3257,
          "cds_end": null,
          "cds_length": 3822,
          "cdna_start": 3782,
          "cdna_end": null,
          "cdna_length": 6608,
          "mane_select": null,
          "mane_plus": null,
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          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3188C>T",
          "hgvs_p": "p.Ser1063Phe",
          "transcript": "NM_001371138.1",
          "protein_id": "NP_001358067.1",
          "transcript_support_level": null,
          "aa_start": 1063,
          "aa_end": null,
          "aa_length": 1250,
          "cds_start": 3188,
          "cds_end": null,
          "cds_length": 3753,
          "cdna_start": 3713,
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          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3167C>T",
          "hgvs_p": "p.Ser1056Phe",
          "transcript": "NM_001371158.1",
          "protein_id": "NP_001358087.1",
          "transcript_support_level": null,
          "aa_start": 1056,
          "aa_end": null,
          "aa_length": 1243,
          "cds_start": 3167,
          "cds_end": null,
          "cds_length": 3732,
          "cdna_start": 3692,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
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          "protein_coding": true,
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          ],
          "exon_rank": 28,
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          "intron_rank": null,
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          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3005C>T",
          "hgvs_p": "p.Ser1002Phe",
          "transcript": "NM_001371143.1",
          "protein_id": "NP_001358072.1",
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          "aa_start": 1002,
          "aa_end": null,
          "aa_length": 1189,
          "cds_start": 3005,
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          "cdna_start": 3606,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3005C>T",
          "hgvs_p": "p.Ser1002Phe",
          "transcript": "NM_001371164.1",
          "protein_id": "NP_001358093.1",
          "transcript_support_level": null,
          "aa_start": 1002,
          "aa_end": null,
          "aa_length": 1189,
          "cds_start": 3005,
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          "cds_length": 3570,
          "cdna_start": 3588,
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          "cdna_length": 6414,
          "mane_select": null,
          "mane_plus": null,
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          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3359C>T",
          "hgvs_p": "p.Ser1120Phe",
          "transcript": "XM_011516253.3",
          "protein_id": "XP_011514555.1",
          "transcript_support_level": null,
          "aa_start": 1120,
          "aa_end": null,
          "aa_length": 1311,
          "cds_start": 3359,
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          "cds_length": 3936,
          "cdna_start": 3884,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
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          "protein_coding": true,
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          "consequences": [
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          ],
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          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3359C>T",
          "hgvs_p": "p.Ser1120Phe",
          "transcript": "XM_011516255.2",
          "protein_id": "XP_011514557.1",
          "transcript_support_level": null,
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          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
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          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3350C>T",
          "hgvs_p": "p.Ser1117Phe",
          "transcript": "XM_006716003.3",
          "protein_id": "XP_006716066.1",
          "transcript_support_level": null,
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          "cds_start": 3350,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRCAM",
          "gene_hgnc_id": 7994,
          "hgvs_c": "c.3341C>T",
          "hgvs_p": "p.Ser1114Phe",
          "transcript": "XM_011516257.3",
          "protein_id": "XP_011514559.1",
          "transcript_support_level": null,
          "aa_start": 1114,
          "aa_end": null,
          "aa_length": 1305,
          "cds_start": 3341,
          "cds_end": null,
          "cds_length": 3918,
          "cdna_start": 3866,
          "cdna_end": null,
          "cdna_length": 6704,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 32,
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      ],
      "gene_symbol": "NRCAM",
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      "dbsnp": "rs200800851",
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      "gnomad_exomes_af": 0.00000615801,
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      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
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      "computational_score_selected": 0.24920690059661865,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.029999999329447746,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.199,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.5568,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.26,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 8.82,
      "phylop100way_prediction": "Pathogenic",
      "spliceai_max_score": 0.03,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
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      "mitotip_score": null,
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      "acmg_score": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4_Moderate",
      "acmg_by_gene": [
        {
          "score": 0,
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          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001037132.4",
          "gene_symbol": "NRCAM",
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          "effects": [
            "missense_variant"
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          "inheritance_mode": "AR",
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          "hgvs_p": "p.Ser1117Phe"
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        {
          "score": 0,
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            "BP4_Moderate"
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          "verdict": "Uncertain_significance",
          "transcript": "XR_002956579.2",
          "gene_symbol": "LOC102724363",
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          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.201+1090G>A",
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      ],
      "clinvar_disease": "Inborn genetic diseases",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Inborn genetic diseases",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
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  ],
  "message": null
}