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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: 10-27112115-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=27112115&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 27112115,
      "ref": "T",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "NM_139312.3",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YME1L1",
          "gene_hgnc_id": 12843,
          "hgvs_c": "c.2013A>G",
          "hgvs_p": "p.Ser671Ser",
          "transcript": "NM_014263.4",
          "protein_id": "NP_055078.1",
          "transcript_support_level": null,
          "aa_start": 671,
          "aa_end": null,
          "aa_length": 716,
          "cds_start": 2013,
          "cds_end": null,
          "cds_length": 2151,
          "cdna_start": 2187,
          "cdna_end": null,
          "cdna_length": 4191,
          "mane_select": "ENST00000376016.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_014263.4"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YME1L1",
          "gene_hgnc_id": 12843,
          "hgvs_c": "c.2013A>G",
          "hgvs_p": "p.Ser671Ser",
          "transcript": "ENST00000376016.8",
          "protein_id": "ENSP00000365184.3",
          "transcript_support_level": 1,
          "aa_start": 671,
          "aa_end": null,
          "aa_length": 716,
          "cds_start": 2013,
          "cds_end": null,
          "cds_length": 2151,
          "cdna_start": 2187,
          "cdna_end": null,
          "cdna_length": 4191,
          "mane_select": "NM_014263.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000376016.8"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YME1L1",
          "gene_hgnc_id": 12843,
          "hgvs_c": "c.2184A>G",
          "hgvs_p": "p.Ser728Ser",
          "transcript": "ENST00000326799.7",
          "protein_id": "ENSP00000318480.3",
          "transcript_support_level": 1,
          "aa_start": 728,
          "aa_end": null,
          "aa_length": 773,
          "cds_start": 2184,
          "cds_end": null,
          "cds_length": 2322,
          "cdna_start": 2333,
          "cdna_end": null,
          "cdna_length": 3994,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000326799.7"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YME1L1",
          "gene_hgnc_id": 12843,
          "hgvs_c": "c.2259A>G",
          "hgvs_p": "p.Ser753Ser",
          "transcript": "ENST00000969517.1",
          "protein_id": "ENSP00000639576.1",
          "transcript_support_level": null,
          "aa_start": 753,
          "aa_end": null,
          "aa_length": 798,
          "cds_start": 2259,
          "cds_end": null,
          "cds_length": 2397,
          "cdna_start": 2463,
          "cdna_end": null,
          "cdna_length": 2845,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000969517.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YME1L1",
          "gene_hgnc_id": 12843,
          "hgvs_c": "c.2184A>G",
          "hgvs_p": "p.Ser728Ser",
          "transcript": "NM_139312.3",
          "protein_id": "NP_647473.1",
          "transcript_support_level": null,
          "aa_start": 728,
          "aa_end": null,
          "aa_length": 773,
          "cds_start": 2184,
          "cds_end": null,
          "cds_length": 2322,
          "cdna_start": 2358,
          "cdna_end": null,
          "cdna_length": 4362,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_139312.3"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YME1L1",
          "gene_hgnc_id": 12843,
          "hgvs_c": "c.2091A>G",
          "hgvs_p": "p.Ser697Ser",
          "transcript": "ENST00000969518.1",
          "protein_id": "ENSP00000639577.1",
          "transcript_support_level": null,
          "aa_start": 697,
          "aa_end": null,
          "aa_length": 742,
          "cds_start": 2091,
          "cds_end": null,
          "cds_length": 2229,
          "cdna_start": 2250,
          "cdna_end": null,
          "cdna_length": 2626,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000969518.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YME1L1",
          "gene_hgnc_id": 12843,
          "hgvs_c": "c.2085A>G",
          "hgvs_p": "p.Ser695Ser",
          "transcript": "ENST00000891817.1",
          "protein_id": "ENSP00000561876.1",
          "transcript_support_level": null,
          "aa_start": 695,
          "aa_end": null,
          "aa_length": 740,
          "cds_start": 2085,
          "cds_end": null,
          "cds_length": 2223,
          "cdna_start": 2098,
          "cdna_end": null,
          "cdna_length": 3336,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000891817.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YME1L1",
          "gene_hgnc_id": 12843,
          "hgvs_c": "c.2061A>G",
          "hgvs_p": "p.Ser687Ser",
          "transcript": "ENST00000891815.1",
          "protein_id": "ENSP00000561874.1",
          "transcript_support_level": null,
          "aa_start": 687,
          "aa_end": null,
          "aa_length": 732,
          "cds_start": 2061,
          "cds_end": null,
          "cds_length": 2199,
          "cdna_start": 2225,
          "cdna_end": null,
          "cdna_length": 3885,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000891815.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YME1L1",
          "gene_hgnc_id": 12843,
          "hgvs_c": "c.2013A>G",
          "hgvs_p": "p.Ser671Ser",
          "transcript": "ENST00000969516.1",
          "protein_id": "ENSP00000639575.1",
          "transcript_support_level": null,
          "aa_start": 671,
          "aa_end": null,
          "aa_length": 716,
          "cds_start": 2013,
          "cds_end": null,
          "cds_length": 2151,
          "cdna_start": 2369,
          "cdna_end": null,
          "cdna_length": 2745,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000969516.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YME1L1",
          "gene_hgnc_id": 12843,
          "hgvs_c": "c.2004A>G",
          "hgvs_p": "p.Ser668Ser",
          "transcript": "ENST00000891814.1",
          "protein_id": "ENSP00000561873.1",
          "transcript_support_level": null,
          "aa_start": 668,
          "aa_end": null,
          "aa_length": 713,
          "cds_start": 2004,
          "cds_end": null,
          "cds_length": 2142,
          "cdna_start": 2178,
          "cdna_end": null,
          "cdna_length": 3834,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000891814.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YME1L1",
          "gene_hgnc_id": 12843,
          "hgvs_c": "c.1998A>G",
          "hgvs_p": "p.Ser666Ser",
          "transcript": "ENST00000891816.1",
          "protein_id": "ENSP00000561875.1",
          "transcript_support_level": null,
          "aa_start": 666,
          "aa_end": null,
          "aa_length": 711,
          "cds_start": 1998,
          "cds_end": null,
          "cds_length": 2136,
          "cdna_start": 2160,
          "cdna_end": null,
          "cdna_length": 3535,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000891816.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YME1L1",
          "gene_hgnc_id": 12843,
          "hgvs_c": "c.1965A>G",
          "hgvs_p": "p.Ser655Ser",
          "transcript": "ENST00000891820.1",
          "protein_id": "ENSP00000561879.1",
          "transcript_support_level": null,
          "aa_start": 655,
          "aa_end": null,
          "aa_length": 700,
          "cds_start": 1965,
          "cds_end": null,
          "cds_length": 2103,
          "cdna_start": 2135,
          "cdna_end": null,
          "cdna_length": 2696,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000891820.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YME1L1",
          "gene_hgnc_id": 12843,
          "hgvs_c": "c.1950A>G",
          "hgvs_p": "p.Ser650Ser",
          "transcript": "ENST00000969514.1",
          "protein_id": "ENSP00000639573.1",
          "transcript_support_level": null,
          "aa_start": 650,
          "aa_end": null,
          "aa_length": 695,
          "cds_start": 1950,
          "cds_end": null,
          "cds_length": 2088,
          "cdna_start": 2124,
          "cdna_end": null,
          "cdna_length": 3202,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000969514.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YME1L1",
          "gene_hgnc_id": 12843,
          "hgvs_c": "c.1926A>G",
          "hgvs_p": "p.Ser642Ser",
          "transcript": "ENST00000891819.1",
          "protein_id": "ENSP00000561878.1",
          "transcript_support_level": null,
          "aa_start": 642,
          "aa_end": null,
          "aa_length": 687,
          "cds_start": 1926,
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          "cdna_start": 2069,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000891819.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YME1L1",
          "gene_hgnc_id": 12843,
          "hgvs_c": "c.1914A>G",
          "hgvs_p": "p.Ser638Ser",
          "transcript": "NM_001253866.2",
          "protein_id": "NP_001240795.1",
          "transcript_support_level": null,
          "aa_start": 638,
          "aa_end": null,
          "aa_length": 683,
          "cds_start": 1914,
          "cds_end": null,
          "cds_length": 2052,
          "cdna_start": 2088,
          "cdna_end": null,
          "cdna_length": 4092,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001253866.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YME1L1",
          "gene_hgnc_id": 12843,
          "hgvs_c": "c.1914A>G",
          "hgvs_p": "p.Ser638Ser",
          "transcript": "ENST00000427324.6",
          "protein_id": "ENSP00000398713.2",
          "transcript_support_level": 3,
          "aa_start": 638,
          "aa_end": null,
          "aa_length": 683,
          "cds_start": 1914,
          "cds_end": null,
          "cds_length": 2052,
          "cdna_start": 2124,
          "cdna_end": null,
          "cdna_length": 4151,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000427324.6"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YME1L1",
          "gene_hgnc_id": 12843,
          "hgvs_c": "c.1857A>G",
          "hgvs_p": "p.Ser619Ser",
          "transcript": "ENST00000891821.1",
          "protein_id": "ENSP00000561880.1",
          "transcript_support_level": null,
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          "aa_length": 664,
          "cds_start": 1857,
          "cds_end": null,
          "cds_length": 1995,
          "cdna_start": 2031,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000891821.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YME1L1",
          "gene_hgnc_id": 12843,
          "hgvs_c": "c.1812A>G",
          "hgvs_p": "p.Ser604Ser",
          "transcript": "ENST00000891818.1",
          "protein_id": "ENSP00000561877.1",
          "transcript_support_level": null,
          "aa_start": 604,
          "aa_end": null,
          "aa_length": 649,
          "cds_start": 1812,
          "cds_end": null,
          "cds_length": 1950,
          "cdna_start": 1986,
          "cdna_end": null,
          "cdna_length": 3027,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000891818.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YME1L1",
          "gene_hgnc_id": 12843,
          "hgvs_c": "c.1797A>G",
          "hgvs_p": "p.Ser599Ser",
          "transcript": "ENST00000927724.1",
          "protein_id": "ENSP00000597783.1",
          "transcript_support_level": null,
          "aa_start": 599,
          "aa_end": null,
          "aa_length": 644,
          "cds_start": 1797,
          "cds_end": null,
          "cds_length": 1935,
          "cdna_start": 1961,
          "cdna_end": null,
          "cdna_length": 2340,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000927724.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "YME1L1",
          "gene_hgnc_id": 12843,
          "hgvs_c": "c.1740A>G",
          "hgvs_p": "p.Ser580Ser",
          "transcript": "ENST00000969515.1",
          "protein_id": "ENSP00000639574.1",
          "transcript_support_level": null,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 625,
          "cds_start": 1740,
          "cds_end": null,
          "cds_length": 1878,
          "cdna_start": 1923,
          "cdna_end": null,
          "cdna_length": 2964,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000969515.1"
        },
        {
          "aa_ref": "S",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
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          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "YME1L1",
          "gene_hgnc_id": 12843,
          "hgvs_c": "c.1641A>G",
          "hgvs_p": "p.Ser547Ser",
          "transcript": "ENST00000491542.7",
          "protein_id": "ENSP00000473557.2",
          "transcript_support_level": 2,
          "aa_start": 547,
          "aa_end": null,
          "aa_length": 592,
          "cds_start": 1641,
          "cds_end": null,
          "cds_length": 1779,
          "cdna_start": 1823,
          "cdna_end": null,
          "cdna_length": 2208,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000491542.7"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
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          "gene_symbol": "YME1L1",
          "gene_hgnc_id": 12843,
          "hgvs_c": "c.1323A>G",
          "hgvs_p": "p.Ser441Ser",
          "transcript": "ENST00000927723.1",
          "protein_id": "ENSP00000597782.1",
          "transcript_support_level": null,
          "aa_start": 441,
          "aa_end": null,
          "aa_length": 486,
          "cds_start": 1323,
          "cds_end": null,
          "cds_length": 1461,
          "cdna_start": 1487,
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          "cdna_length": 1867,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000927723.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
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          "exon_count": 19,
          "intron_rank": null,
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          "gene_symbol": "YME1L1",
          "gene_hgnc_id": 12843,
          "hgvs_c": "c.2085A>G",
          "hgvs_p": "p.Ser695Ser",
          "transcript": "XM_011519300.4",
          "protein_id": "XP_011517602.1",
          "transcript_support_level": null,
          "aa_start": 695,
          "aa_end": null,
          "aa_length": 740,
          "cds_start": 2085,
          "cds_end": null,
          "cds_length": 2223,
          "cdna_start": 2259,
          "cdna_end": null,
          "cdna_length": 4263,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011519300.4"
        }
      ],
      "gene_symbol": "YME1L1",
      "gene_hgnc_id": 12843,
      "dbsnp": "rs542565458",
      "frequency_reference_population": 0.000009300826,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 15,
      "gnomad_exomes_af": 0.00000821665,
      "gnomad_genomes_af": 0.0000196967,
      "gnomad_exomes_ac": 12,
      "gnomad_genomes_ac": 3,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.5899999737739563,
      "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": -0.59,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.672,
      "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": -5,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
      "acmg_by_gene": [
        {
          "score": -5,
          "benign_score": 7,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP6_Moderate",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_139312.3",
          "gene_symbol": "YME1L1",
          "hgnc_id": 12843,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR,Unknown",
          "hgvs_c": "c.2184A>G",
          "hgvs_p": "p.Ser728Ser"
        }
      ],
      "clinvar_disease": "not provided",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "not provided",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}
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