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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: 2-218344516-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218344516&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 218344516,
      "ref": "C",
      "alt": "G",
      "effect": "synonymous_variant",
      "transcript": "ENST00000273077.9",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PNKD",
          "gene_hgnc_id": 9153,
          "hgvs_c": "c.930C>G",
          "hgvs_p": "p.Ala310Ala",
          "transcript": "NM_015488.5",
          "protein_id": "NP_056303.3",
          "transcript_support_level": null,
          "aa_start": 310,
          "aa_end": null,
          "aa_length": 385,
          "cds_start": 930,
          "cds_end": null,
          "cds_length": 1158,
          "cdna_start": 947,
          "cdna_end": null,
          "cdna_length": 2987,
          "mane_select": "ENST00000273077.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PNKD",
          "gene_hgnc_id": 9153,
          "hgvs_c": "c.930C>G",
          "hgvs_p": "p.Ala310Ala",
          "transcript": "ENST00000273077.9",
          "protein_id": "ENSP00000273077.4",
          "transcript_support_level": 1,
          "aa_start": 310,
          "aa_end": null,
          "aa_length": 385,
          "cds_start": 930,
          "cds_end": null,
          "cds_length": 1158,
          "cdna_start": 947,
          "cdna_end": null,
          "cdna_length": 2987,
          "mane_select": "NM_015488.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PNKD",
          "gene_hgnc_id": 9153,
          "hgvs_c": "c.858C>G",
          "hgvs_p": "p.Ala286Ala",
          "transcript": "ENST00000258362.7",
          "protein_id": "ENSP00000258362.3",
          "transcript_support_level": 1,
          "aa_start": 286,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": 858,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": 953,
          "cdna_end": null,
          "cdna_length": 2991,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PNKD",
          "gene_hgnc_id": 9153,
          "hgvs_c": "c.1047C>G",
          "hgvs_p": "p.Ala349Ala",
          "transcript": "ENST00000685415.1",
          "protein_id": "ENSP00000510415.1",
          "transcript_support_level": null,
          "aa_start": 349,
          "aa_end": null,
          "aa_length": 424,
          "cds_start": 1047,
          "cds_end": null,
          "cds_length": 1275,
          "cdna_start": 1069,
          "cdna_end": null,
          "cdna_length": 3100,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PNKD",
          "gene_hgnc_id": 9153,
          "hgvs_c": "c.921C>G",
          "hgvs_p": "p.Ala307Ala",
          "transcript": "ENST00000436005.3",
          "protein_id": "ENSP00000414400.3",
          "transcript_support_level": 5,
          "aa_start": 307,
          "aa_end": null,
          "aa_length": 382,
          "cds_start": 921,
          "cds_end": null,
          "cds_length": 1149,
          "cdna_start": 943,
          "cdna_end": null,
          "cdna_length": 2974,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PNKD",
          "gene_hgnc_id": 9153,
          "hgvs_c": "c.894C>G",
          "hgvs_p": "p.Ala298Ala",
          "transcript": "ENST00000689816.1",
          "protein_id": "ENSP00000508450.1",
          "transcript_support_level": null,
          "aa_start": 298,
          "aa_end": null,
          "aa_length": 373,
          "cds_start": 894,
          "cds_end": null,
          "cds_length": 1122,
          "cdna_start": 916,
          "cdna_end": null,
          "cdna_length": 2919,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PNKD",
          "gene_hgnc_id": 9153,
          "hgvs_c": "c.858C>G",
          "hgvs_p": "p.Ala286Ala",
          "transcript": "NM_022572.4",
          "protein_id": "NP_072094.1",
          "transcript_support_level": null,
          "aa_start": 286,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": 858,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": 947,
          "cdna_end": null,
          "cdna_length": 2987,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PNKD",
          "gene_hgnc_id": 9153,
          "hgvs_c": "c.807C>G",
          "hgvs_p": "p.Ala269Ala",
          "transcript": "ENST00000688179.1",
          "protein_id": "ENSP00000508635.1",
          "transcript_support_level": null,
          "aa_start": 269,
          "aa_end": null,
          "aa_length": 344,
          "cds_start": 807,
          "cds_end": null,
          "cds_length": 1035,
          "cdna_start": 829,
          "cdna_end": null,
          "cdna_length": 2832,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PNKD",
          "gene_hgnc_id": 9153,
          "hgvs_c": "c.750C>G",
          "hgvs_p": "p.Ala250Ala",
          "transcript": "ENST00000687736.1",
          "protein_id": "ENSP00000509627.1",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 325,
          "cds_start": 750,
          "cds_end": null,
          "cds_length": 978,
          "cdna_start": 750,
          "cdna_end": null,
          "cdna_length": 2753,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PNKD",
          "gene_hgnc_id": 9153,
          "hgvs_c": "c.570C>G",
          "hgvs_p": "p.Ala190Ala",
          "transcript": "ENST00000692295.1",
          "protein_id": "ENSP00000509392.1",
          "transcript_support_level": null,
          "aa_start": 190,
          "aa_end": null,
          "aa_length": 265,
          "cds_start": 570,
          "cds_end": null,
          "cds_length": 798,
          "cdna_start": 570,
          "cdna_end": null,
          "cdna_length": 2601,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PNKD",
          "gene_hgnc_id": 9153,
          "hgvs_c": "c.549C>G",
          "hgvs_p": "p.Ala183Ala",
          "transcript": "ENST00000691220.1",
          "protein_id": "ENSP00000509580.1",
          "transcript_support_level": null,
          "aa_start": 183,
          "aa_end": null,
          "aa_length": 258,
          "cds_start": 549,
          "cds_end": null,
          "cds_length": 777,
          "cdna_start": 549,
          "cdna_end": null,
          "cdna_length": 2580,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PNKD",
          "gene_hgnc_id": 9153,
          "hgvs_c": "c.843C>G",
          "hgvs_p": "p.Ala281Ala",
          "transcript": "XM_017003771.2",
          "protein_id": "XP_016859260.1",
          "transcript_support_level": null,
          "aa_start": 281,
          "aa_end": null,
          "aa_length": 356,
          "cds_start": 843,
          "cds_end": null,
          "cds_length": 1071,
          "cdna_start": 860,
          "cdna_end": null,
          "cdna_length": 2900,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PNKD",
          "gene_hgnc_id": 9153,
          "hgvs_c": "c.771C>G",
          "hgvs_p": "p.Ala257Ala",
          "transcript": "XM_017003772.2",
          "protein_id": "XP_016859261.1",
          "transcript_support_level": null,
          "aa_start": 257,
          "aa_end": null,
          "aa_length": 332,
          "cds_start": 771,
          "cds_end": null,
          "cds_length": 999,
          "cdna_start": 860,
          "cdna_end": null,
          "cdna_length": 2900,
          "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": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PNKD",
          "gene_hgnc_id": 9153,
          "hgvs_c": "n.1688C>G",
          "hgvs_p": null,
          "transcript": "ENST00000684905.1",
          "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": 3719,
          "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": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PNKD",
          "gene_hgnc_id": 9153,
          "hgvs_c": "n.1594C>G",
          "hgvs_p": null,
          "transcript": "ENST00000689098.1",
          "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": 3625,
          "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": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PNKD",
          "gene_hgnc_id": 9153,
          "hgvs_c": "n.1727C>G",
          "hgvs_p": null,
          "transcript": "ENST00000689693.1",
          "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": 3758,
          "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": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PNKD",
          "gene_hgnc_id": 9153,
          "hgvs_c": "n.*838C>G",
          "hgvs_p": null,
          "transcript": "ENST00000690891.1",
          "protein_id": "ENSP00000509744.1",
          "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": 3106,
          "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": 2,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PNKD",
          "gene_hgnc_id": 9153,
          "hgvs_c": "n.*55C>G",
          "hgvs_p": null,
          "transcript": "ENST00000693423.1",
          "protein_id": "ENSP00000508705.1",
          "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": 2308,
          "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": 2,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PNKD",
          "gene_hgnc_id": 9153,
          "hgvs_c": "n.252C>G",
          "hgvs_p": null,
          "transcript": "ENST00000693556.1",
          "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": 2255,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PNKD",
          "gene_hgnc_id": 9153,
          "hgvs_c": "n.*838C>G",
          "hgvs_p": null,
          "transcript": "ENST00000690891.1",
          "protein_id": "ENSP00000509744.1",
          "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": 3106,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PNKD",
          "gene_hgnc_id": 9153,
          "hgvs_c": "n.*55C>G",
          "hgvs_p": null,
          "transcript": "ENST00000693423.1",
          "protein_id": "ENSP00000508705.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
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          "cdna_length": 2308,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
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          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CATIP-AS2",
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          "hgvs_c": "n.146+6644G>C",
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          "transcript": "ENST00000411433.2",
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          "transcript_support_level": 3,
          "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": 1203,
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        },
        {
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          "protein_coding": false,
          "strand": true,
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            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 3,
          "intron_rank": 2,
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          "gene_symbol": "PNKD",
          "gene_hgnc_id": 9153,
          "hgvs_c": "n.240-292C>G",
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          "transcript": "ENST00000691799.1",
          "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": 2203,
          "mane_select": null,
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        },
        {
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          "protein_coding": false,
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          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 4,
          "intron_rank": 2,
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          "gene_symbol": "CATIP-AS2",
          "gene_hgnc_id": 41079,
          "hgvs_c": "n.120+6644G>C",
          "hgvs_p": null,
          "transcript": "NR_125777.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
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          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 1183,
          "mane_select": null,
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          "biotype": null,
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        }
      ],
      "gene_symbol": "PNKD",
      "gene_hgnc_id": 9153,
      "dbsnp": "rs146224183",
      "frequency_reference_population": 0.00004645119,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 74,
      "gnomad_exomes_af": 0.0000249836,
      "gnomad_genomes_af": 0.000249793,
      "gnomad_exomes_ac": 36,
      "gnomad_genomes_ac": 38,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.28999999165534973,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.009999999776482582,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.29,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.006,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.01,
      "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": -9,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BS2",
      "acmg_by_gene": [
        {
          "score": -9,
          "benign_score": 9,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate",
            "BP6_Moderate",
            "BP7",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000273077.9",
          "gene_symbol": "PNKD",
          "hgnc_id": 9153,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.930C>G",
          "hgvs_p": "p.Ala310Ala"
        },
        {
          "score": -4,
          "benign_score": 4,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate",
            "BP6_Moderate"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000411433.2",
          "gene_symbol": "CATIP-AS2",
          "hgnc_id": 41079,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.146+6644G>C",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Paroxysmal nonkinesigenic dyskinesia",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "B:1",
      "phenotype_combined": "Paroxysmal nonkinesigenic dyskinesia",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}