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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: 10-113634170-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=113634170&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 113634170,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_001261463.2",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRAP",
          "gene_hgnc_id": 7988,
          "hgvs_c": "c.1469C>T",
          "hgvs_p": "p.Ser490Leu",
          "transcript": "NM_198060.4",
          "protein_id": "NP_932326.2",
          "transcript_support_level": null,
          "aa_start": 490,
          "aa_end": null,
          "aa_length": 1730,
          "cds_start": 1469,
          "cds_end": null,
          "cds_length": 5193,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000359988.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_198060.4"
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRAP",
          "gene_hgnc_id": 7988,
          "hgvs_c": "c.1469C>T",
          "hgvs_p": "p.Ser490Leu",
          "transcript": "ENST00000359988.4",
          "protein_id": "ENSP00000353078.3",
          "transcript_support_level": 1,
          "aa_start": 490,
          "aa_end": null,
          "aa_length": 1730,
          "cds_start": 1469,
          "cds_end": null,
          "cds_length": 5193,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_198060.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000359988.4"
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRAP",
          "gene_hgnc_id": 7988,
          "hgvs_c": "c.1469C>T",
          "hgvs_p": "p.Ser490Leu",
          "transcript": "ENST00000369358.8",
          "protein_id": "ENSP00000358365.4",
          "transcript_support_level": 1,
          "aa_start": 490,
          "aa_end": null,
          "aa_length": 1731,
          "cds_start": 1469,
          "cds_end": null,
          "cds_length": 5196,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000369358.8"
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRAP",
          "gene_hgnc_id": 7988,
          "hgvs_c": "c.1364C>T",
          "hgvs_p": "p.Ser455Leu",
          "transcript": "ENST00000360478.7",
          "protein_id": "ENSP00000353666.3",
          "transcript_support_level": 1,
          "aa_start": 455,
          "aa_end": null,
          "aa_length": 1695,
          "cds_start": 1364,
          "cds_end": null,
          "cds_length": 5088,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000360478.7"
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRAP",
          "gene_hgnc_id": 7988,
          "hgvs_c": "c.1469C>T",
          "hgvs_p": "p.Ser490Leu",
          "transcript": "NM_001261463.2",
          "protein_id": "NP_001248392.1",
          "transcript_support_level": null,
          "aa_start": 490,
          "aa_end": null,
          "aa_length": 1731,
          "cds_start": 1469,
          "cds_end": null,
          "cds_length": 5196,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001261463.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRAP",
          "gene_hgnc_id": 7988,
          "hgvs_c": "c.1364C>T",
          "hgvs_p": "p.Ser455Leu",
          "transcript": "ENST00000369360.7",
          "protein_id": "ENSP00000358367.3",
          "transcript_support_level": 5,
          "aa_start": 455,
          "aa_end": null,
          "aa_length": 1703,
          "cds_start": 1364,
          "cds_end": null,
          "cds_length": 5112,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000369360.7"
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRAP",
          "gene_hgnc_id": 7988,
          "hgvs_c": "c.1469C>T",
          "hgvs_p": "p.Ser490Leu",
          "transcript": "ENST00000945588.1",
          "protein_id": "ENSP00000615647.1",
          "transcript_support_level": null,
          "aa_start": 490,
          "aa_end": null,
          "aa_length": 1697,
          "cds_start": 1469,
          "cds_end": null,
          "cds_length": 5094,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000945588.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRAP",
          "gene_hgnc_id": 7988,
          "hgvs_c": "c.1364C>T",
          "hgvs_p": "p.Ser455Leu",
          "transcript": "ENST00000883351.1",
          "protein_id": "ENSP00000553410.1",
          "transcript_support_level": null,
          "aa_start": 455,
          "aa_end": null,
          "aa_length": 1696,
          "cds_start": 1364,
          "cds_end": null,
          "cds_length": 5091,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000883351.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRAP",
          "gene_hgnc_id": 7988,
          "hgvs_c": "c.1364C>T",
          "hgvs_p": "p.Ser455Leu",
          "transcript": "NM_006175.5",
          "protein_id": "NP_006166.3",
          "transcript_support_level": null,
          "aa_start": 455,
          "aa_end": null,
          "aa_length": 1695,
          "cds_start": 1364,
          "cds_end": null,
          "cds_length": 5088,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_006175.5"
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRAP",
          "gene_hgnc_id": 7988,
          "hgvs_c": "c.1469C>T",
          "hgvs_p": "p.Ser490Leu",
          "transcript": "ENST00000883369.1",
          "protein_id": "ENSP00000553428.1",
          "transcript_support_level": null,
          "aa_start": 490,
          "aa_end": null,
          "aa_length": 1695,
          "cds_start": 1469,
          "cds_end": null,
          "cds_length": 5088,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000883369.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRAP",
          "gene_hgnc_id": 7988,
          "hgvs_c": "c.1469C>T",
          "hgvs_p": "p.Ser490Leu",
          "transcript": "ENST00000945556.1",
          "protein_id": "ENSP00000615615.1",
          "transcript_support_level": null,
          "aa_start": 490,
          "aa_end": null,
          "aa_length": 1695,
          "cds_start": 1469,
          "cds_end": null,
          "cds_length": 5088,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000945556.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRAP",
          "gene_hgnc_id": 7988,
          "hgvs_c": "c.1469C>T",
          "hgvs_p": "p.Ser490Leu",
          "transcript": "NM_001322945.2",
          "protein_id": "NP_001309874.1",
          "transcript_support_level": null,
          "aa_start": 490,
          "aa_end": null,
          "aa_length": 1694,
          "cds_start": 1469,
          "cds_end": null,
          "cds_length": 5085,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001322945.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRAP",
          "gene_hgnc_id": 7988,
          "hgvs_c": "c.1469C>T",
          "hgvs_p": "p.Ser490Leu",
          "transcript": "ENST00000945563.1",
          "protein_id": "ENSP00000615622.1",
          "transcript_support_level": null,
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          "aa_length": 1694,
          "cds_start": 1469,
          "cds_end": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000945563.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRAP",
          "gene_hgnc_id": 7988,
          "hgvs_c": "c.1469C>T",
          "hgvs_p": "p.Ser490Leu",
          "transcript": "ENST00000945565.1",
          "protein_id": "ENSP00000615624.1",
          "transcript_support_level": null,
          "aa_start": 490,
          "aa_end": null,
          "aa_length": 1694,
          "cds_start": 1469,
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          "cdna_start": null,
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        {
          "aa_ref": "S",
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          "canonical": false,
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          "strand": false,
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          ],
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          "intron_rank": null,
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          "gene_symbol": "NRAP",
          "gene_hgnc_id": 7988,
          "hgvs_c": "c.1364C>T",
          "hgvs_p": "p.Ser455Leu",
          "transcript": "ENST00000945582.1",
          "protein_id": "ENSP00000615641.1",
          "transcript_support_level": null,
          "aa_start": 455,
          "aa_end": null,
          "aa_length": 1694,
          "cds_start": 1364,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000945582.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRAP",
          "gene_hgnc_id": 7988,
          "hgvs_c": "c.1355C>T",
          "hgvs_p": "p.Ser452Leu",
          "transcript": "ENST00000945579.1",
          "protein_id": "ENSP00000615638.1",
          "transcript_support_level": null,
          "aa_start": 452,
          "aa_end": null,
          "aa_length": 1693,
          "cds_start": 1355,
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          "cds_length": 5082,
          "cdna_start": null,
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        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRAP",
          "gene_hgnc_id": 7988,
          "hgvs_c": "c.1469C>T",
          "hgvs_p": "p.Ser490Leu",
          "transcript": "ENST00000945573.1",
          "protein_id": "ENSP00000615632.1",
          "transcript_support_level": null,
          "aa_start": 490,
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        {
          "aa_ref": "S",
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          "exon_count": 41,
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          "gene_symbol": "NRAP",
          "gene_hgnc_id": 7988,
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          "transcript": "ENST00000945586.1",
          "protein_id": "ENSP00000615645.1",
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        },
        {
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          ],
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          "exon_count": 40,
          "intron_rank": null,
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          "gene_symbol": "NRAP",
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          "hgvs_c": "c.1364C>T",
          "hgvs_p": "p.Ser455Leu",
          "transcript": "ENST00000945554.1",
          "protein_id": "ENSP00000615613.1",
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          "biotype": "protein_coding",
          "feature": "ENST00000945554.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRAP",
          "gene_hgnc_id": 7988,
          "hgvs_c": "c.1364C>T",
          "hgvs_p": "p.Ser455Leu",
          "transcript": "ENST00000883355.1",
          "protein_id": "ENSP00000553414.1",
          "transcript_support_level": null,
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          "aa_length": 1661,
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          "cds_length": 4986,
          "cdna_start": null,
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          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRAP",
          "gene_hgnc_id": 7988,
          "hgvs_c": "c.1469C>T",
          "hgvs_p": "p.Ser490Leu",
          "transcript": "XM_005269865.3",
          "protein_id": "XP_005269922.1",
          "transcript_support_level": null,
          "aa_start": 490,
          "aa_end": null,
          "aa_length": 1695,
          "cds_start": 1469,
          "cds_end": null,
          "cds_length": 5088,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_005269865.3"
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
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          "gene_symbol": "NRAP",
          "gene_hgnc_id": 7988,
          "hgvs_c": "c.1469C>T",
          "hgvs_p": "p.Ser490Leu",
          "transcript": "XM_011539832.3",
          "protein_id": "XP_011538134.1",
          "transcript_support_level": null,
          "aa_start": 490,
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          "aa_length": 1695,
          "cds_start": 1469,
          "cds_end": null,
          "cds_length": 5088,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011539832.3"
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRAP",
          "gene_hgnc_id": 7988,
          "hgvs_c": "c.1469C>T",
          "hgvs_p": "p.Ser490Leu",
          "transcript": "XM_047425253.1",
          "protein_id": "XP_047281209.1",
          "transcript_support_level": null,
          "aa_start": 490,
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          "aa_length": 1695,
          "cds_start": 1469,
          "cds_end": null,
          "cds_length": 5088,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047425253.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRAP",
          "gene_hgnc_id": 7988,
          "hgvs_c": "c.1469C>T",
          "hgvs_p": "p.Ser490Leu",
          "transcript": "XM_005269867.3",
          "protein_id": "XP_005269924.1",
          "transcript_support_level": null,
          "aa_start": 490,
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          "aa_length": 1627,
          "cds_start": 1469,
          "cds_end": null,
          "cds_length": 4884,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_005269867.3"
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
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          "exon_count": 41,
          "intron_rank": null,
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          "gene_symbol": "NRAP",
          "gene_hgnc_id": 7988,
          "hgvs_c": "c.1469C>T",
          "hgvs_p": "p.Ser490Leu",
          "transcript": "XM_024448029.2",
          "protein_id": "XP_024303797.1",
          "transcript_support_level": null,
          "aa_start": 490,
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          "aa_length": 1626,
          "cds_start": 1469,
          "cds_end": null,
          "cds_length": 4881,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_024448029.2"
        }
      ],
      "gene_symbol": "NRAP",
      "gene_hgnc_id": 7988,
      "dbsnp": "rs3189030",
      "frequency_reference_population": 0.3099052,
      "hom_count_reference_population": 80769,
      "allele_count_reference_population": 499398,
      "gnomad_exomes_af": 0.314308,
      "gnomad_genomes_af": 0.267637,
      "gnomad_exomes_ac": 458714,
      "gnomad_genomes_ac": 40684,
      "gnomad_exomes_homalt": 74710,
      "gnomad_genomes_homalt": 6059,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.0009263753890991211,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.071,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.1257,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.59,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 2.488,
      "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": -20,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -20,
          "benign_score": 20,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_001261463.2",
          "gene_symbol": "NRAP",
          "hgnc_id": 7988,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1469C>T",
          "hgvs_p": "p.Ser490Leu"
        }
      ],
      "clinvar_disease": "NRAP-related disorder,not provided,not specified",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "B:3",
      "phenotype_combined": "not provided|not specified|NRAP-related disorder",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}