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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: X-71140758-ACAGCAGCAACAGCAACAGCAGCAG-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=71140758&ref=ACAGCAGCAACAGCAACAGCAGCAG&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "X",
      "pos": 71140758,
      "ref": "ACAGCAGCAACAGCAACAGCAGCAG",
      "alt": "A",
      "effect": "disruptive_inframe_deletion",
      "transcript": "NM_005120.3",
      "consequences": [
        {
          "aa_ref": "QQQQQQQQQ",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_deletion"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 45,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MED12",
          "gene_hgnc_id": 11957,
          "hgvs_c": "c.6201_6224delACAGCAACAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln2068_Gln2075del",
          "transcript": "NM_005120.3",
          "protein_id": "NP_005111.2",
          "transcript_support_level": null,
          "aa_start": 2067,
          "aa_end": null,
          "aa_length": 2177,
          "cds_start": 6201,
          "cds_end": null,
          "cds_length": 6534,
          "cdna_start": 6360,
          "cdna_end": null,
          "cdna_length": 6925,
          "mane_select": "ENST00000374080.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "QQQQQQQQQ",
          "aa_alt": "Q",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_deletion"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 45,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MED12",
          "gene_hgnc_id": 11957,
          "hgvs_c": "c.6201_6224delACAGCAACAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln2068_Gln2075del",
          "transcript": "ENST00000374080.8",
          "protein_id": "ENSP00000363193.3",
          "transcript_support_level": 1,
          "aa_start": 2067,
          "aa_end": null,
          "aa_length": 2177,
          "cds_start": 6201,
          "cds_end": null,
          "cds_length": 6534,
          "cdna_start": 6360,
          "cdna_end": null,
          "cdna_length": 6925,
          "mane_select": "NM_005120.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "QQQQQQQQQ",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_deletion"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 45,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MED12",
          "gene_hgnc_id": 11957,
          "hgvs_c": "c.6210_6233delACAGCAACAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln2071_Gln2078del",
          "transcript": "ENST00000374102.6",
          "protein_id": "ENSP00000363215.2",
          "transcript_support_level": 1,
          "aa_start": 2070,
          "aa_end": null,
          "aa_length": 2180,
          "cds_start": 6210,
          "cds_end": null,
          "cds_length": 6543,
          "cdna_start": 6336,
          "cdna_end": null,
          "cdna_length": 6901,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "QQQQQQQQQ",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_deletion"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 45,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MED12",
          "gene_hgnc_id": 11957,
          "hgvs_c": "c.6207_6230delACAGCAACAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln2070_Gln2077del",
          "transcript": "ENST00000690145.1",
          "protein_id": "ENSP00000508818.1",
          "transcript_support_level": null,
          "aa_start": 2069,
          "aa_end": null,
          "aa_length": 2179,
          "cds_start": 6207,
          "cds_end": null,
          "cds_length": 6540,
          "cdna_start": 6237,
          "cdna_end": null,
          "cdna_length": 6739,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "QQQQQQQQQ",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_deletion"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 45,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MED12",
          "gene_hgnc_id": 11957,
          "hgvs_c": "c.6198_6221delACAGCAACAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln2067_Gln2074del",
          "transcript": "ENST00000692304.1",
          "protein_id": "ENSP00000508427.1",
          "transcript_support_level": null,
          "aa_start": 2066,
          "aa_end": null,
          "aa_length": 2176,
          "cds_start": 6198,
          "cds_end": null,
          "cds_length": 6531,
          "cdna_start": 6410,
          "cdna_end": null,
          "cdna_length": 8628,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "QQQQQQQQQ",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_deletion"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 46,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MED12",
          "gene_hgnc_id": 11957,
          "hgvs_c": "c.6135_6158delACAGCAACAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln2046_Gln2053del",
          "transcript": "ENST00000690242.1",
          "protein_id": "ENSP00000510090.1",
          "transcript_support_level": null,
          "aa_start": 2045,
          "aa_end": null,
          "aa_length": 2155,
          "cds_start": 6135,
          "cds_end": null,
          "cds_length": 6468,
          "cdna_start": 6347,
          "cdna_end": null,
          "cdna_length": 6912,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "QQQQQQQQQ",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_deletion"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 46,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MED12",
          "gene_hgnc_id": 11957,
          "hgvs_c": "c.6126_6149delACAGCAACAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln2043_Gln2050del",
          "transcript": "ENST00000687382.1",
          "protein_id": "ENSP00000510724.1",
          "transcript_support_level": null,
          "aa_start": 2042,
          "aa_end": null,
          "aa_length": 2152,
          "cds_start": 6126,
          "cds_end": null,
          "cds_length": 6459,
          "cdna_start": 6325,
          "cdna_end": null,
          "cdna_length": 6764,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "QQQQQQQQQ",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_deletion"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 45,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MED12",
          "gene_hgnc_id": 11957,
          "hgvs_c": "c.6081_6104delACAGCAACAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln2028_Gln2035del",
          "transcript": "ENST00000333646.11",
          "protein_id": "ENSP00000333125.8",
          "transcript_support_level": 5,
          "aa_start": 2027,
          "aa_end": null,
          "aa_length": 2137,
          "cds_start": 6081,
          "cds_end": null,
          "cds_length": 6414,
          "cdna_start": 6240,
          "cdna_end": null,
          "cdna_length": 6797,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "QQQQQQQQQ",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_deletion"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MED12",
          "gene_hgnc_id": 11957,
          "hgvs_c": "c.4155_4178delACAGCAACAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln1386_Gln1393del",
          "transcript": "ENST00000693391.1",
          "protein_id": "ENSP00000509563.1",
          "transcript_support_level": null,
          "aa_start": 1385,
          "aa_end": null,
          "aa_length": 1494,
          "cds_start": 4155,
          "cds_end": null,
          "cds_length": 4485,
          "cdna_start": 4155,
          "cdna_end": null,
          "cdna_length": 4699,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "QQQQQQQQQ",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_deletion"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MED12",
          "gene_hgnc_id": 11957,
          "hgvs_c": "c.1176_1199delACAGCAACAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln393_Gln400del",
          "transcript": "ENST00000444034.2",
          "protein_id": "ENSP00000404373.2",
          "transcript_support_level": 5,
          "aa_start": 392,
          "aa_end": null,
          "aa_length": 501,
          "cds_start": 1176,
          "cds_end": null,
          "cds_length": 1506,
          "cdna_start": 1176,
          "cdna_end": null,
          "cdna_length": 1675,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "QQQQQQQQQ",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_deletion"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MED12",
          "gene_hgnc_id": 11957,
          "hgvs_c": "c.243_266delACAGCAACAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln82_Gln89del",
          "transcript": "ENST00000688231.1",
          "protein_id": "ENSP00000508591.1",
          "transcript_support_level": null,
          "aa_start": 81,
          "aa_end": null,
          "aa_length": 246,
          "cds_start": 243,
          "cds_end": null,
          "cds_length": 741,
          "cdna_start": 245,
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          "cdna_length": 854,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "QQQQQQQQQ",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_deletion"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MED12",
          "gene_hgnc_id": 11957,
          "hgvs_c": "c.6216_6239delACAGCAACAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln2073_Gln2080del",
          "transcript": "XM_047442699.1",
          "protein_id": "XP_047298655.1",
          "transcript_support_level": null,
          "aa_start": 2072,
          "aa_end": null,
          "aa_length": 2130,
          "cds_start": 6216,
          "cds_end": null,
          "cds_length": 6393,
          "cdna_start": 6375,
          "cdna_end": null,
          "cdna_length": 7312,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "QQQQQQQQQ",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_deletion"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MED12",
          "gene_hgnc_id": 11957,
          "hgvs_c": "c.6210_6233delACAGCAACAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln2071_Gln2078del",
          "transcript": "XM_047442700.1",
          "protein_id": "XP_047298656.1",
          "transcript_support_level": null,
          "aa_start": 2070,
          "aa_end": null,
          "aa_length": 2128,
          "cds_start": 6210,
          "cds_end": null,
          "cds_length": 6387,
          "cdna_start": 6369,
          "cdna_end": null,
          "cdna_length": 7306,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "QQQQQQQQQ",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_deletion"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
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          "gene_symbol": "MED12",
          "gene_hgnc_id": 11957,
          "hgvs_c": "c.6207_6230delACAGCAACAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln2070_Gln2077del",
          "transcript": "XM_047442701.1",
          "protein_id": "XP_047298657.1",
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          "cds_start": 6207,
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          "cds_length": 6384,
          "cdna_start": 6366,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "QQQQQQQQQ",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_deletion"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MED12",
          "gene_hgnc_id": 11957,
          "hgvs_c": "c.6201_6224delACAGCAACAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln2068_Gln2075del",
          "transcript": "XM_047442702.1",
          "protein_id": "XP_047298658.1",
          "transcript_support_level": null,
          "aa_start": 2067,
          "aa_end": null,
          "aa_length": 2125,
          "cds_start": 6201,
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          "cds_length": 6378,
          "cdna_start": 6360,
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          "cdna_length": 7297,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "QQQQQQQQQ",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 45,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MED12",
          "gene_hgnc_id": 11957,
          "hgvs_c": "c.6135_6158delACAGCAACAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln2046_Gln2053del",
          "transcript": "XM_047442703.1",
          "protein_id": "XP_047298659.1",
          "transcript_support_level": null,
          "aa_start": 2045,
          "aa_end": null,
          "aa_length": 2103,
          "cds_start": 6135,
          "cds_end": null,
          "cds_length": 6312,
          "cdna_start": 6294,
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          "cdna_length": 7231,
          "mane_select": null,
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        },
        {
          "aa_ref": "QQQQQQQQQ",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "disruptive_inframe_deletion"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 45,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MED12",
          "gene_hgnc_id": 11957,
          "hgvs_c": "c.6126_6149delACAGCAACAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln2043_Gln2050del",
          "transcript": "XM_047442704.1",
          "protein_id": "XP_047298660.1",
          "transcript_support_level": null,
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          "cds_start": 6126,
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          "cds_length": 6303,
          "cdna_start": 6285,
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          "cdna_length": 7222,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MED12",
          "gene_hgnc_id": 11957,
          "hgvs_c": "n.2899_2922delACAGCAACAGCAGCAGCAGCAGCA",
          "hgvs_p": null,
          "transcript": "ENST00000685182.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 3446,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MED12",
          "gene_hgnc_id": 11957,
          "hgvs_c": "n.2587_2610delACAGCAACAGCAGCAGCAGCAGCA",
          "hgvs_p": null,
          "transcript": "ENST00000686169.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 3148,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
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          "gene_symbol": "MED12",
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          "hgvs_c": "n.*3122_*3145delACAGCAACAGCAGCAGCAGCAGCA",
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          "transcript": "ENST00000688663.1",
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        {
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          "exon_rank": 5,
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          "intron_rank": null,
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          "gene_symbol": "MED12",
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          "hgvs_c": "n.*52_*75delACAGCAACAGCAGCAGCAGCAGCA",
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          "transcript": "ENST00000688774.1",
          "protein_id": "ENSP00000508823.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 1186,
          "mane_select": null,
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          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "MED12",
          "gene_hgnc_id": 11957,
          "hgvs_c": "n.*170_*193delACAGCAACAGCAGCAGCAGCAGCA",
          "hgvs_p": null,
          "transcript": "ENST00000690807.1",
          "protein_id": "ENSP00000510476.1",
          "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,
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          "cdna_length": 1184,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 2,
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          "exon_count": 3,
          "intron_rank": null,
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          "gene_symbol": "MED12",
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          "hgvs_c": "n.*122_*145delACAGCAACAGCAGCAGCAGCAGCA",
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          "transcript": "ENST00000690878.1",
          "protein_id": "ENSP00000508927.1",
          "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,
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          "cdna_length": 439,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
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          "gene_symbol": "MED12",
          "gene_hgnc_id": 11957,
          "hgvs_c": "n.*3882_*3905delACAGCAACAGCAGCAGCAGCAGCA",
          "hgvs_p": null,
          "transcript": "ENST00000691113.1",
          "protein_id": "ENSP00000509755.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 5245,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MED12",
          "gene_hgnc_id": 11957,
          "hgvs_c": "n.3012_*15delCAGCAGCAACAGCAACAGCAGCAG",
          "hgvs_p": null,
          "transcript": "ENST00000692964.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 3020,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "MED12",
      "gene_hgnc_id": 11957,
      "dbsnp": "rs773709991",
      "frequency_reference_population": 0.00001832811,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 2,
      "gnomad_exomes_af": 0.0000136704,
      "gnomad_genomes_af": 0.0000183281,
      "gnomad_exomes_ac": 15,
      "gnomad_genomes_ac": 2,
      "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": 6.661,
      "phylop100way_prediction": "Uncertain_significance",
      "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": -1,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP3",
      "acmg_by_gene": [
        {
          "score": -1,
          "benign_score": 1,
          "pathogenic_score": 0,
          "criteria": [
            "BP3"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_005120.3",
          "gene_symbol": "MED12",
          "hgnc_id": 11957,
          "effects": [
            "disruptive_inframe_deletion"
          ],
          "inheritance_mode": "XL",
          "hgvs_c": "c.6201_6224delACAGCAACAGCAGCAGCAGCAGCA",
          "hgvs_p": "p.Gln2068_Gln2075del"
        },
        {
          "score": 0,
          "benign_score": 0,
          "pathogenic_score": 0,
          "criteria": [],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000740246.1",
          "gene_symbol": "ENSG00000228427",
          "hgnc_id": null,
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.416_439delCTGCTGCTGTTGCTGTTGCTGCTG",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "FG syndrome",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "FG syndrome",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}