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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: 5-95490951-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=95490951&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 95490951,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "ENST00000358746.7",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "c.3888G>A",
          "hgvs_p": "p.Arg1296Arg",
          "transcript": "NM_014639.4",
          "protein_id": "NP_055454.1",
          "transcript_support_level": null,
          "aa_start": 1296,
          "aa_end": null,
          "aa_length": 1564,
          "cds_start": 3888,
          "cds_end": null,
          "cds_length": 4695,
          "cdna_start": 4157,
          "cdna_end": null,
          "cdna_length": 5677,
          "mane_select": "ENST00000358746.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "c.3888G>A",
          "hgvs_p": "p.Arg1296Arg",
          "transcript": "ENST00000358746.7",
          "protein_id": "ENSP00000351596.3",
          "transcript_support_level": 1,
          "aa_start": 1296,
          "aa_end": null,
          "aa_length": 1564,
          "cds_start": 3888,
          "cds_end": null,
          "cds_length": 4695,
          "cdna_start": 4157,
          "cdna_end": null,
          "cdna_length": 5677,
          "mane_select": "NM_014639.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "c.3888G>A",
          "hgvs_p": "p.Arg1296Arg",
          "transcript": "ENST00000698479.1",
          "protein_id": "ENSP00000513748.1",
          "transcript_support_level": null,
          "aa_start": 1296,
          "aa_end": null,
          "aa_length": 1578,
          "cds_start": 3888,
          "cds_end": null,
          "cds_length": 4737,
          "cdna_start": 4178,
          "cdna_end": null,
          "cdna_length": 6910,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 38,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "c.3888G>A",
          "hgvs_p": "p.Arg1296Arg",
          "transcript": "ENST00000649566.1",
          "protein_id": "ENSP00000497948.1",
          "transcript_support_level": null,
          "aa_start": 1296,
          "aa_end": null,
          "aa_length": 1564,
          "cds_start": 3888,
          "cds_end": null,
          "cds_length": 4695,
          "cdna_start": 4379,
          "cdna_end": null,
          "cdna_length": 8038,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "c.3888G>A",
          "hgvs_p": "p.Arg1296Arg",
          "transcript": "ENST00000698487.1",
          "protein_id": "ENSP00000513753.1",
          "transcript_support_level": null,
          "aa_start": 1296,
          "aa_end": null,
          "aa_length": 1562,
          "cds_start": 3888,
          "cds_end": null,
          "cds_length": 4689,
          "cdna_start": 4178,
          "cdna_end": null,
          "cdna_length": 6862,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "c.3879G>A",
          "hgvs_p": "p.Arg1293Arg",
          "transcript": "ENST00000698454.1",
          "protein_id": "ENSP00000513736.1",
          "transcript_support_level": null,
          "aa_start": 1293,
          "aa_end": null,
          "aa_length": 1561,
          "cds_start": 3879,
          "cds_end": null,
          "cds_length": 4686,
          "cdna_start": 4148,
          "cdna_end": null,
          "cdna_length": 7807,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "c.3888G>A",
          "hgvs_p": "p.Arg1296Arg",
          "transcript": "ENST00000698490.1",
          "protein_id": "ENSP00000513755.1",
          "transcript_support_level": null,
          "aa_start": 1296,
          "aa_end": null,
          "aa_length": 1561,
          "cds_start": 3888,
          "cds_end": null,
          "cds_length": 4686,
          "cdna_start": 4178,
          "cdna_end": null,
          "cdna_length": 5672,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 36,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "c.3678G>A",
          "hgvs_p": "p.Arg1226Arg",
          "transcript": "ENST00000698457.1",
          "protein_id": "ENSP00000513739.1",
          "transcript_support_level": null,
          "aa_start": 1226,
          "aa_end": null,
          "aa_length": 1494,
          "cds_start": 3678,
          "cds_end": null,
          "cds_length": 4485,
          "cdna_start": 3968,
          "cdna_end": null,
          "cdna_length": 7627,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "c.3888G>A",
          "hgvs_p": "p.Arg1296Arg",
          "transcript": "XM_047417937.1",
          "protein_id": "XP_047273893.1",
          "transcript_support_level": null,
          "aa_start": 1296,
          "aa_end": null,
          "aa_length": 1564,
          "cds_start": 3888,
          "cds_end": null,
          "cds_length": 4695,
          "cdna_start": 6086,
          "cdna_end": null,
          "cdna_length": 7606,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "n.714G>A",
          "hgvs_p": null,
          "transcript": "ENST00000502768.1",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 917,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 34,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "n.5380G>A",
          "hgvs_p": null,
          "transcript": "ENST00000506007.2",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8070,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 34,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "n.*2711G>A",
          "hgvs_p": null,
          "transcript": "ENST00000513232.2",
          "protein_id": "ENSP00000422749.2",
          "transcript_support_level": 3,
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": null,
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        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "n.3272G>A",
          "hgvs_p": null,
          "transcript": "ENST00000698450.1",
          "protein_id": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 6931,
          "mane_select": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "n.3558G>A",
          "hgvs_p": null,
          "transcript": "ENST00000698451.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_length": 7217,
          "mane_select": null,
          "mane_plus": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
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          "gene_symbol": "SKIC3",
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          "hgvs_c": "n.4730G>A",
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          "transcript": "ENST00000698452.1",
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          "mane_select": null,
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          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "n.*1309G>A",
          "hgvs_p": null,
          "transcript": "ENST00000698453.1",
          "protein_id": "ENSP00000513735.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_length": null,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 36,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "n.*4114G>A",
          "hgvs_p": null,
          "transcript": "ENST00000698455.1",
          "protein_id": "ENSP00000513737.1",
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          "cds_start": -4,
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          "cdna_length": 8223,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 36,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
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          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "n.*2746G>A",
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          "transcript": "ENST00000698456.1",
          "protein_id": "ENSP00000513738.1",
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 36,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "n.*1309G>A",
          "hgvs_p": null,
          "transcript": "ENST00000698458.1",
          "protein_id": "ENSP00000513740.1",
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          "cdna_length": 7799,
          "mane_select": null,
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 38,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "n.*1250G>A",
          "hgvs_p": null,
          "transcript": "ENST00000698459.1",
          "protein_id": "ENSP00000513741.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7938,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 35,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "n.*1651G>A",
          "hgvs_p": null,
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        {
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        },
        {
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          "hgvs_c": "n.*1060G>A",
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          "transcript": "ENST00000698488.1",
          "protein_id": "ENSP00000513754.1",
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        },
        {
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          "consequences": [
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          "gene_symbol": "SKIC3",
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          "hgvs_c": "n.*2603G>A",
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          "transcript": "ENST00000698492.1",
          "protein_id": "ENSP00000513756.1",
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      ],
      "gene_symbol": "SKIC3",
      "gene_hgnc_id": 23639,
      "dbsnp": "rs2303650",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.30000001192092896,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.3,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.327,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -1,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Moderate,BP7",
      "acmg_by_gene": [
        {
          "score": -1,
          "benign_score": 3,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000358746.7",
          "gene_symbol": "SKIC3",
          "hgnc_id": 23639,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.3888G>A",
          "hgvs_p": "p.Arg1296Arg"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}