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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: 11-828952-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=828952&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 828952,
      "ref": "G",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_001286606.2",
      "consequences": [
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.266G>C",
          "hgvs_p": "p.Cys89Ser",
          "transcript": "NM_001286606.2",
          "protein_id": "NP_001273535.1",
          "transcript_support_level": null,
          "aa_start": 89,
          "aa_end": null,
          "aa_length": 399,
          "cds_start": 266,
          "cds_end": null,
          "cds_length": 1200,
          "cdna_start": 955,
          "cdna_end": null,
          "cdna_length": 2166,
          "mane_select": "ENST00000525077.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001286606.2"
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.266G>C",
          "hgvs_p": "p.Cys89Ser",
          "transcript": "ENST00000525077.2",
          "protein_id": "ENSP00000435299.1",
          "transcript_support_level": 1,
          "aa_start": 89,
          "aa_end": null,
          "aa_length": 399,
          "cds_start": 266,
          "cds_end": null,
          "cds_length": 1200,
          "cdna_start": 955,
          "cdna_end": null,
          "cdna_length": 2166,
          "mane_select": "NM_001286606.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000525077.2"
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.266G>C",
          "hgvs_p": "p.Cys89Ser",
          "transcript": "ENST00000450448.5",
          "protein_id": "ENSP00000409256.1",
          "transcript_support_level": 1,
          "aa_start": 89,
          "aa_end": null,
          "aa_length": 294,
          "cds_start": 266,
          "cds_end": null,
          "cds_length": 885,
          "cdna_start": 614,
          "cdna_end": null,
          "cdna_length": 1663,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000450448.5"
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.266G>C",
          "hgvs_p": "p.Cys89Ser",
          "transcript": "ENST00000528542.6",
          "protein_id": "ENSP00000432334.1",
          "transcript_support_level": 1,
          "aa_start": 89,
          "aa_end": null,
          "aa_length": 294,
          "cds_start": 266,
          "cds_end": null,
          "cds_length": 885,
          "cdna_start": 748,
          "cdna_end": null,
          "cdna_length": 1792,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000528542.6"
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.266G>C",
          "hgvs_p": "p.Cys89Ser",
          "transcript": "ENST00000948433.1",
          "protein_id": "ENSP00000618492.1",
          "transcript_support_level": null,
          "aa_start": 89,
          "aa_end": null,
          "aa_length": 421,
          "cds_start": 266,
          "cds_end": null,
          "cds_length": 1266,
          "cdna_start": 1571,
          "cdna_end": null,
          "cdna_length": 2837,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000948433.1"
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.266G>C",
          "hgvs_p": "p.Cys89Ser",
          "transcript": "ENST00000948431.1",
          "protein_id": "ENSP00000618490.1",
          "transcript_support_level": null,
          "aa_start": 89,
          "aa_end": null,
          "aa_length": 405,
          "cds_start": 266,
          "cds_end": null,
          "cds_length": 1218,
          "cdna_start": 833,
          "cdna_end": null,
          "cdna_length": 2062,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000948431.1"
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.266G>C",
          "hgvs_p": "p.Cys89Ser",
          "transcript": "ENST00000948432.1",
          "protein_id": "ENSP00000618491.1",
          "transcript_support_level": null,
          "aa_start": 89,
          "aa_end": null,
          "aa_length": 405,
          "cds_start": 266,
          "cds_end": null,
          "cds_length": 1218,
          "cdna_start": 1054,
          "cdna_end": null,
          "cdna_length": 2282,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000948432.1"
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.266G>C",
          "hgvs_p": "p.Cys89Ser",
          "transcript": "ENST00000948434.1",
          "protein_id": "ENSP00000618493.1",
          "transcript_support_level": null,
          "aa_start": 89,
          "aa_end": null,
          "aa_length": 405,
          "cds_start": 266,
          "cds_end": null,
          "cds_length": 1218,
          "cdna_start": 1313,
          "cdna_end": null,
          "cdna_length": 2540,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000948434.1"
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.266G>C",
          "hgvs_p": "p.Cys89Ser",
          "transcript": "ENST00000865120.1",
          "protein_id": "ENSP00000535179.1",
          "transcript_support_level": null,
          "aa_start": 89,
          "aa_end": null,
          "aa_length": 399,
          "cds_start": 266,
          "cds_end": null,
          "cds_length": 1200,
          "cdna_start": 412,
          "cdna_end": null,
          "cdna_length": 1623,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000865120.1"
        },
        {
          "aa_ref": "C",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.266G>C",
          "hgvs_p": "p.Cys89Ser",
          "transcript": "ENST00000865121.1",
          "protein_id": "ENSP00000535180.1",
          "transcript_support_level": null,
          "aa_start": 89,
          "aa_end": null,
          "aa_length": 399,
          "cds_start": 266,
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          "cds_length": 1200,
          "cdna_start": 1188,
          "cdna_end": null,
          "cdna_length": 2406,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "C",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.266G>C",
          "hgvs_p": "p.Cys89Ser",
          "transcript": "ENST00000865122.1",
          "protein_id": "ENSP00000535181.1",
          "transcript_support_level": null,
          "aa_start": 89,
          "aa_end": null,
          "aa_length": 399,
          "cds_start": 266,
          "cds_end": null,
          "cds_length": 1200,
          "cdna_start": 787,
          "cdna_end": null,
          "cdna_length": 2004,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "C",
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.266G>C",
          "hgvs_p": "p.Cys89Ser",
          "transcript": "ENST00000948430.1",
          "protein_id": "ENSP00000618489.1",
          "transcript_support_level": null,
          "aa_start": 89,
          "aa_end": null,
          "aa_length": 399,
          "cds_start": 266,
          "cds_end": null,
          "cds_length": 1200,
          "cdna_start": 826,
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          "cdna_length": 2040,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "C",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.266G>C",
          "hgvs_p": "p.Cys89Ser",
          "transcript": "NM_173584.4",
          "protein_id": "NP_775855.3",
          "transcript_support_level": null,
          "aa_start": 89,
          "aa_end": null,
          "aa_length": 294,
          "cds_start": 266,
          "cds_end": null,
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          "cdna_start": 614,
          "cdna_end": null,
          "cdna_length": 1663,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_173584.4"
        },
        {
          "aa_ref": "A",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.238G>C",
          "hgvs_p": "p.Ala80Pro",
          "transcript": "XM_017017582.2",
          "protein_id": "XP_016873071.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 627,
          "cds_start": 238,
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        },
        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.238G>C",
          "hgvs_p": "p.Ala80Pro",
          "transcript": "XM_017017583.2",
          "protein_id": "XP_016873072.1",
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          "aa_end": null,
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          "cdna_start": 724,
          "cdna_end": null,
          "cdna_length": 2652,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_017017583.2"
        },
        {
          "aa_ref": "A",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.238G>C",
          "hgvs_p": "p.Ala80Pro",
          "transcript": "XM_017017584.2",
          "protein_id": "XP_016873073.1",
          "transcript_support_level": null,
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          "aa_length": 627,
          "cds_start": 238,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "A",
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          "consequences": [
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          ],
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          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.238G>C",
          "hgvs_p": "p.Ala80Pro",
          "transcript": "XM_017017585.2",
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        {
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          "gene_symbol": "CRACR2B",
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          "hgvs_c": "c.238G>C",
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "CRACR2B",
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          "hgvs_c": "c.238G>C",
          "hgvs_p": "p.Ala80Pro",
          "transcript": "XM_017017587.2",
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          "cdna_length": 2337,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "A",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.238G>C",
          "hgvs_p": "p.Ala80Pro",
          "transcript": "XM_017017588.2",
          "protein_id": "XP_016873077.1",
          "transcript_support_level": null,
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          "cds_length": 1884,
          "cdna_start": 463,
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          "protein_id": "ENSP00000436624.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 52,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 159,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 530,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000530183.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.*241G>C",
          "hgvs_p": null,
          "transcript": "ENST00000528315.1",
          "protein_id": "ENSP00000434198.1",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 33,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 104,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 575,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000528315.1"
        }
      ],
      "gene_symbol": "CRACR2B",
      "gene_hgnc_id": 28703,
      "dbsnp": "rs957216008",
      "frequency_reference_population": 0.000006234896,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 10,
      "gnomad_exomes_af": 0.00000619998,
      "gnomad_genomes_af": 0.0000065678,
      "gnomad_exomes_ac": 9,
      "gnomad_genomes_ac": 1,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.10236749053001404,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.061,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.2131,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.52,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 4.136,
      "phylop100way_prediction": "Uncertain_significance",
      "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": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4_Moderate",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001286606.2",
          "gene_symbol": "CRACR2B",
          "hgnc_id": 28703,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.266G>C",
          "hgvs_p": "p.Cys89Ser"
        },
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000532946.2",
          "gene_symbol": "ENSG00000255108",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.306+1613C>G",
          "hgvs_p": null
        }
      ],
      "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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