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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: 17-38734696-T-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=38734696&ref=T&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 38734696,
      "ref": "T",
      "alt": "G",
      "effect": "3_prime_UTR_variant",
      "transcript": "NM_007144.3",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCGF2",
          "gene_hgnc_id": 12929,
          "hgvs_c": "c.*527A>C",
          "hgvs_p": null,
          "transcript": "NM_007144.3",
          "protein_id": "NP_009075.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 344,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1035,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000620225.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_007144.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCGF2",
          "gene_hgnc_id": 12929,
          "hgvs_c": "c.*527A>C",
          "hgvs_p": null,
          "transcript": "ENST00000620225.5",
          "protein_id": "ENSP00000482815.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 344,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1035,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_007144.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000620225.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CISD3",
          "gene_hgnc_id": 27578,
          "hgvs_c": "c.*1241T>G",
          "hgvs_p": null,
          "transcript": "NM_001136498.2",
          "protein_id": "NP_001129970.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 127,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 384,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000613478.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001136498.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CISD3",
          "gene_hgnc_id": 27578,
          "hgvs_c": "c.*1241T>G",
          "hgvs_p": null,
          "transcript": "ENST00000613478.2",
          "protein_id": "ENSP00000483781.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 127,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 384,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001136498.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000613478.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCGF2",
          "gene_hgnc_id": 12929,
          "hgvs_c": "c.*527A>C",
          "hgvs_p": null,
          "transcript": "ENST00000611883.4",
          "protein_id": "ENSP00000478970.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 344,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1035,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000611883.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCGF2",
          "gene_hgnc_id": 12929,
          "hgvs_c": "c.*527A>C",
          "hgvs_p": null,
          "transcript": "ENST00000616199.4",
          "protein_id": "ENSP00000482063.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 344,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1035,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000616199.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CISD3",
          "gene_hgnc_id": 27578,
          "hgvs_c": "n.1978T>G",
          "hgvs_p": null,
          "transcript": "ENST00000619858.1",
          "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": "ENST00000619858.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCGF2",
          "gene_hgnc_id": 12929,
          "hgvs_c": "c.*527A>C",
          "hgvs_p": null,
          "transcript": "ENST00000939018.1",
          "protein_id": "ENSP00000609077.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 345,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1038,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000939018.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCGF2",
          "gene_hgnc_id": 12929,
          "hgvs_c": "c.*527A>C",
          "hgvs_p": null,
          "transcript": "ENST00000939019.1",
          "protein_id": "ENSP00000609078.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 345,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1038,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000939019.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCGF2",
          "gene_hgnc_id": 12929,
          "hgvs_c": "c.*527A>C",
          "hgvs_p": null,
          "transcript": "NM_001369614.1",
          "protein_id": "NP_001356543.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 344,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1035,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001369614.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCGF2",
          "gene_hgnc_id": 12929,
          "hgvs_c": "c.*527A>C",
          "hgvs_p": null,
          "transcript": "NM_001369615.1",
          "protein_id": "NP_001356544.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 344,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1035,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001369615.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCGF2",
          "gene_hgnc_id": 12929,
          "hgvs_c": "c.*527A>C",
          "hgvs_p": null,
          "transcript": "ENST00000894201.1",
          "protein_id": "ENSP00000564260.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 344,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1035,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894201.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCGF2",
          "gene_hgnc_id": 12929,
          "hgvs_c": "c.*527A>C",
          "hgvs_p": null,
          "transcript": "ENST00000894202.1",
          "protein_id": "ENSP00000564261.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 344,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1035,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894202.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCGF2",
          "gene_hgnc_id": 12929,
          "hgvs_c": "c.*527A>C",
          "hgvs_p": null,
          "transcript": "ENST00000894203.1",
          "protein_id": "ENSP00000564262.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 344,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1035,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894203.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCGF2",
          "gene_hgnc_id": 12929,
          "hgvs_c": "c.*527A>C",
          "hgvs_p": null,
          "transcript": "ENST00000894204.1",
          "protein_id": "ENSP00000564263.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 344,
          "cds_start": null,
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          "cds_length": 1035,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894204.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCGF2",
          "gene_hgnc_id": 12929,
          "hgvs_c": "c.*527A>C",
          "hgvs_p": null,
          "transcript": "ENST00000894205.1",
          "protein_id": "ENSP00000564264.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 344,
          "cds_start": null,
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          "cds_length": 1035,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894205.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCGF2",
          "gene_hgnc_id": 12929,
          "hgvs_c": "c.*527A>C",
          "hgvs_p": null,
          "transcript": "ENST00000894207.1",
          "protein_id": "ENSP00000564266.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 344,
          "cds_start": null,
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          "cds_length": 1035,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894207.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCGF2",
          "gene_hgnc_id": 12929,
          "hgvs_c": "c.*527A>C",
          "hgvs_p": null,
          "transcript": "ENST00000939014.1",
          "protein_id": "ENSP00000609073.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000939014.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCGF2",
          "gene_hgnc_id": 12929,
          "hgvs_c": "c.*527A>C",
          "hgvs_p": null,
          "transcript": "ENST00000939015.1",
          "protein_id": "ENSP00000609074.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": null,
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          "cds_length": 1035,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000939015.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCGF2",
          "gene_hgnc_id": 12929,
          "hgvs_c": "c.*527A>C",
          "hgvs_p": null,
          "transcript": "ENST00000939016.1",
          "protein_id": "ENSP00000609075.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 344,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1035,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000939016.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 4,
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        {
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      ],
      "gene_symbol": "PCGF2",
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      "dbsnp": "rs708692",
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      "hom_count_reference_population": 0,
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      "gnomad_exomes_af": 0,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 0,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.9100000262260437,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.91,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.827,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
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      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
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          "score": -2,
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          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
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          "verdict": "Likely_benign",
          "transcript": "NM_007144.3",
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          "effects": [
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          "inheritance_mode": "AD",
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        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
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            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001136498.2",
          "gene_symbol": "CISD3",
          "hgnc_id": 27578,
          "effects": [
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          "inheritance_mode": "AR",
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      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}