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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: 9-2039776-A-ACAGCAGCAGCAGCAGCAG (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=2039776&ref=A&alt=ACAGCAGCAGCAGCAGCAG&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 2039776,
      "ref": "A",
      "alt": "ACAGCAGCAGCAGCAGCAG",
      "effect": "disruptive_inframe_insertion",
      "transcript": "ENST00000349721.8",
      "consequences": [
        {
          "aa_ref": "Q",
          "aa_alt": "QQQQQQQ",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA2",
          "gene_hgnc_id": 11098,
          "hgvs_c": "c.690_707dupGCAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln231_Gln236dup",
          "transcript": "NM_003070.5",
          "protein_id": "NP_003061.3",
          "transcript_support_level": null,
          "aa_start": 236,
          "aa_end": null,
          "aa_length": 1590,
          "cds_start": 708,
          "cds_end": null,
          "cds_length": 4773,
          "cdna_start": 802,
          "cdna_end": null,
          "cdna_length": 5748,
          "mane_select": "ENST00000349721.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "QQQQQQQ",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA2",
          "gene_hgnc_id": 11098,
          "hgvs_c": "c.690_707dupGCAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln231_Gln236dup",
          "transcript": "ENST00000349721.8",
          "protein_id": "ENSP00000265773.5",
          "transcript_support_level": 5,
          "aa_start": 236,
          "aa_end": null,
          "aa_length": 1590,
          "cds_start": 708,
          "cds_end": null,
          "cds_length": 4773,
          "cdna_start": 802,
          "cdna_end": null,
          "cdna_length": 5748,
          "mane_select": "NM_003070.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "QQQQQQQ",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA2",
          "gene_hgnc_id": 11098,
          "hgvs_c": "c.690_707dupGCAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln231_Gln236dup",
          "transcript": "ENST00000382203.5",
          "protein_id": "ENSP00000371638.1",
          "transcript_support_level": 1,
          "aa_start": 236,
          "aa_end": null,
          "aa_length": 1590,
          "cds_start": 708,
          "cds_end": null,
          "cds_length": 4773,
          "cdna_start": 917,
          "cdna_end": null,
          "cdna_length": 5867,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "QQQQQQQ",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA2",
          "gene_hgnc_id": 11098,
          "hgvs_c": "c.690_707dupGCAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln231_Gln236dup",
          "transcript": "ENST00000450198.6",
          "protein_id": "ENSP00000392081.2",
          "transcript_support_level": 1,
          "aa_start": 236,
          "aa_end": null,
          "aa_length": 1514,
          "cds_start": 708,
          "cds_end": null,
          "cds_length": 4545,
          "cdna_start": 930,
          "cdna_end": null,
          "cdna_length": 5602,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "QQQQQQQ",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA2",
          "gene_hgnc_id": 11098,
          "hgvs_c": "c.690_707dupGCAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln231_Gln236dup",
          "transcript": "NM_001289396.2",
          "protein_id": "NP_001276325.1",
          "transcript_support_level": null,
          "aa_start": 236,
          "aa_end": null,
          "aa_length": 1590,
          "cds_start": 708,
          "cds_end": null,
          "cds_length": 4773,
          "cdna_start": 917,
          "cdna_end": null,
          "cdna_length": 5863,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "QQQQQQQ",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA2",
          "gene_hgnc_id": 11098,
          "hgvs_c": "c.690_707dupGCAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln231_Gln236dup",
          "transcript": "NM_139045.4",
          "protein_id": "NP_620614.2",
          "transcript_support_level": null,
          "aa_start": 236,
          "aa_end": null,
          "aa_length": 1572,
          "cds_start": 708,
          "cds_end": null,
          "cds_length": 4719,
          "cdna_start": 802,
          "cdna_end": null,
          "cdna_length": 5694,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "QQQQQQQ",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA2",
          "gene_hgnc_id": 11098,
          "hgvs_c": "c.690_707dupGCAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln231_Gln236dup",
          "transcript": "ENST00000357248.8",
          "protein_id": "ENSP00000349788.2",
          "transcript_support_level": 5,
          "aa_start": 236,
          "aa_end": null,
          "aa_length": 1572,
          "cds_start": 708,
          "cds_end": null,
          "cds_length": 4719,
          "cdna_start": 963,
          "cdna_end": null,
          "cdna_length": 5855,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "QQQQQQQ",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA2",
          "gene_hgnc_id": 11098,
          "hgvs_c": "c.690_707dupGCAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln231_Gln236dup",
          "transcript": "ENST00000382194.6",
          "protein_id": "ENSP00000371629.1",
          "transcript_support_level": 5,
          "aa_start": 236,
          "aa_end": null,
          "aa_length": 1572,
          "cds_start": 708,
          "cds_end": null,
          "cds_length": 4719,
          "cdna_start": 830,
          "cdna_end": null,
          "cdna_length": 5679,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "QQQQQQQ",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA2",
          "gene_hgnc_id": 11098,
          "hgvs_c": "c.690_707dupGCAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln231_Gln236dup",
          "transcript": "NM_001289397.2",
          "protein_id": "NP_001276326.1",
          "transcript_support_level": null,
          "aa_start": 236,
          "aa_end": null,
          "aa_length": 1514,
          "cds_start": 708,
          "cds_end": null,
          "cds_length": 4545,
          "cdna_start": 802,
          "cdna_end": null,
          "cdna_length": 5520,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "QQQQQQQ",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA2",
          "gene_hgnc_id": 11098,
          "hgvs_c": "c.330_347dupGCAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln111_Gln116dup",
          "transcript": "ENST00000704350.1",
          "protein_id": "ENSP00000515861.1",
          "transcript_support_level": null,
          "aa_start": 116,
          "aa_end": null,
          "aa_length": 1452,
          "cds_start": 348,
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          "cds_length": 4359,
          "cdna_start": 440,
          "cdna_end": null,
          "cdna_length": 5332,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA2",
          "gene_hgnc_id": 11098,
          "hgvs_c": "c.690_707dupGCAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln231_Gln236dup",
          "transcript": "ENST00000637134.2",
          "protein_id": "ENSP00000489667.2",
          "transcript_support_level": 5,
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          "aa_length": 1151,
          "cds_start": 708,
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          "cds_length": 3456,
          "cdna_start": 1064,
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          "cdna_length": 3812,
          "mane_select": null,
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        },
        {
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
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          "gene_symbol": "SMARCA2",
          "gene_hgnc_id": 11098,
          "hgvs_c": "c.690_707dupGCAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln231_Gln236dup",
          "transcript": "ENST00000704353.1",
          "protein_id": "ENSP00000515864.1",
          "transcript_support_level": null,
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          "cds_start": 708,
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          "cds_length": 1965,
          "cdna_start": 794,
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          "mane_select": null,
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        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "SMARCA2",
          "gene_hgnc_id": 11098,
          "hgvs_c": "c.690_707dupGCAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln231_Gln236dup",
          "transcript": "ENST00000704352.1",
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          "cds_start": 708,
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          "cdna_start": 794,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
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          ],
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          "gene_symbol": "SMARCA2",
          "gene_hgnc_id": 11098,
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          "transcript": "ENST00000636903.1",
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        },
        {
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          "intron_rank": null,
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          "gene_symbol": "SMARCA2",
          "gene_hgnc_id": 11098,
          "hgvs_c": "c.690_707dupGCAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln231_Gln236dup",
          "transcript": "ENST00000637103.1",
          "protein_id": "ENSP00000490486.1",
          "transcript_support_level": 5,
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          "cds_start": 708,
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        },
        {
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          "consequences": [
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          ],
          "exon_rank": 4,
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          "exon_count": 4,
          "intron_rank": null,
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          "gene_symbol": "SMARCA2",
          "gene_hgnc_id": 11098,
          "hgvs_c": "c.690_707dupGCAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln231_Gln236dup",
          "transcript": "ENST00000636559.1",
          "protein_id": "ENSP00000490852.1",
          "transcript_support_level": 2,
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          "cdna_start": 802,
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          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "QQQQQQQ",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_insertion"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
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          "gene_symbol": "SMARCA2",
          "gene_hgnc_id": 11098,
          "hgvs_c": "c.690_707dupGCAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln231_Gln236dup",
          "transcript": "ENST00000637806.1",
          "protein_id": "ENSP00000490551.1",
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          "cdna_start": 958,
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        },
        {
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          "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": "SMARCA2",
          "gene_hgnc_id": 11098,
          "hgvs_c": "n.588_605dupGCAGCAGCAGCAGCAGCA",
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          "transcript": "ENST00000491574.2",
          "protein_id": null,
          "transcript_support_level": 5,
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          "mane_select": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA2",
          "gene_hgnc_id": 11098,
          "hgvs_c": "n.690_707dupGCAGCAGCAGCAGCAGCA",
          "hgvs_p": null,
          "transcript": "ENST00000634760.1",
          "protein_id": "ENSP00000489256.1",
          "transcript_support_level": 5,
          "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": 5847,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA2",
          "gene_hgnc_id": 11098,
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          "intron_rank": null,
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        {
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          "consequences": [
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          ],
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          "exon_count": 4,
          "intron_rank": null,
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          "gene_symbol": "SMARCA2",
          "gene_hgnc_id": 11098,
          "hgvs_c": "c.*20_*21insCAGCAGCAGCAGCAGCAG",
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          "transcript": "ENST00000439732.6",
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        },
        {
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          "consequences": [
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          "gene_symbol": "SMARCA2",
          "gene_hgnc_id": 11098,
          "hgvs_c": "c.*87_*88insCAGCAGCAGCAGCAGCAG",
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          "transcript": "ENST00000457226.2",
          "protein_id": "ENSP00000415218.2",
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        },
        {
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          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 3,
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          "gene_symbol": "SMARCA2",
          "gene_hgnc_id": 11098,
          "hgvs_c": "c.*201_*202insCAGCAGCAGCAGCAGCAG",
          "hgvs_p": null,
          "transcript": "ENST00000634287.1",
          "protein_id": "ENSP00000489142.1",
          "transcript_support_level": 3,
          "aa_start": null,
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          "cds_length": 186,
          "cdna_start": null,
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          "cdna_length": 424,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "SMARCA2",
      "gene_hgnc_id": 11098,
      "dbsnp": "rs113070757",
      "frequency_reference_population": 0.000019942565,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 3,
      "gnomad_exomes_af": 0.0000747008,
      "gnomad_genomes_af": 0.0000199426,
      "gnomad_exomes_ac": 108,
      "gnomad_genomes_ac": 3,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": null,
      "computational_prediction_selected": null,
      "computational_source_selected": null,
      "splice_score_selected": null,
      "splice_prediction_selected": null,
      "splice_source_selected": null,
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": null,
      "bayesdelnoaf_prediction": null,
      "phylop100way_score": 0,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": null,
      "spliceai_max_prediction": null,
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP3,BP6",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 2,
          "pathogenic_score": 0,
          "criteria": [
            "BP3",
            "BP6"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000349721.8",
          "gene_symbol": "SMARCA2",
          "hgnc_id": 11098,
          "effects": [
            "disruptive_inframe_insertion"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.690_707dupGCAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln231_Gln236dup"
        }
      ],
      "clinvar_disease": "Coffin Siris/Intellectual Disability,Nicolaides-Baraitser syndrome",
      "clinvar_classification": "Conflicting classifications of pathogenicity",
      "clinvar_review_status": "criteria provided, conflicting classifications",
      "clinvar_submissions_summary": "US:1 LB:1",
      "phenotype_combined": "Coffin Siris/Intellectual Disability|Nicolaides-Baraitser syndrome",
      "pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
      "custom_annotations": null
    }
  ],
  "message": null
}