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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: 5-150250310-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=150250310&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 150250310,
      "ref": "C",
      "alt": "T",
      "effect": "splice_acceptor_variant,intron_variant",
      "transcript": "ENST00000671881.1",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2A",
          "gene_hgnc_id": 1460,
          "hgvs_c": "c.817-1G>A",
          "hgvs_p": null,
          "transcript": "NM_015981.4",
          "protein_id": "NP_057065.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 489,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1470,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4837,
          "mane_select": "ENST00000671881.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2A",
          "gene_hgnc_id": 1460,
          "hgvs_c": "c.817-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000671881.1",
          "protein_id": "ENSP00000500386.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 489,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1470,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4837,
          "mane_select": "NM_015981.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2A",
          "gene_hgnc_id": 1460,
          "hgvs_c": "c.817-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000348628.11",
          "protein_id": "ENSP00000261793.8",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 478,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1437,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4823,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2A",
          "gene_hgnc_id": 1460,
          "hgvs_c": "c.817-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000398376.8",
          "protein_id": "ENSP00000381412.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 421,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1266,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1425,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2A",
          "gene_hgnc_id": 1460,
          "hgvs_c": "n.905-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000508662.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "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": 1565,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2A",
          "gene_hgnc_id": 1460,
          "hgvs_c": "c.817-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000672396.1",
          "protein_id": "ENSP00000499987.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 559,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1680,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2424,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2A",
          "gene_hgnc_id": 1460,
          "hgvs_c": "c.817-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000510347.2",
          "protein_id": "ENSP00000426607.2",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 548,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1647,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2324,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2A",
          "gene_hgnc_id": 1460,
          "hgvs_c": "c.817-1G>A",
          "hgvs_p": null,
          "transcript": "NM_001363989.1",
          "protein_id": "NP_001350918.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 489,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1470,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5023,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2A",
          "gene_hgnc_id": 1460,
          "hgvs_c": "c.817-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000672829.1",
          "protein_id": "ENSP00000500613.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 489,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1470,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2588,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2A",
          "gene_hgnc_id": 1460,
          "hgvs_c": "c.817-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000682786.1",
          "protein_id": "ENSP00000507199.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 489,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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            "intron_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2A",
          "gene_hgnc_id": 1460,
          "hgvs_c": "c.817-1G>A",
          "hgvs_p": null,
          "transcript": "NM_001363990.1",
          "protein_id": "NP_001350919.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 478,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 4990,
          "mane_select": null,
          "mane_plus": null,
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          "feature": null
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 18,
          "intron_rank": 10,
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          "gene_symbol": "CAMK2A",
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          "hgvs_c": "c.817-1G>A",
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          "transcript": "NM_001369025.2",
          "protein_id": "NP_001355954.1",
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          "cds_start": -4,
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        {
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          ],
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          "exon_count": 18,
          "intron_rank": 10,
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          "gene_symbol": "CAMK2A",
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          "hgvs_c": "c.817-1G>A",
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          "transcript": "NM_171825.3",
          "protein_id": "NP_741960.1",
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        {
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          "strand": false,
          "consequences": [
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            "intron_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2A",
          "gene_hgnc_id": 1460,
          "hgvs_c": "c.817-1G>A",
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          "transcript": "ENST00000672479.1",
          "protein_id": "ENSP00000500642.1",
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          "mane_select": null,
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          ],
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          "gene_symbol": "CAMK2A",
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          "transcript": "ENST00000672752.1",
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          "feature": null
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        {
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          "canonical": false,
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          "consequences": [
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            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 18,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2A",
          "gene_hgnc_id": 1460,
          "hgvs_c": "c.784-1G>A",
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          "transcript": "ENST00000672785.1",
          "protein_id": "ENSP00000500496.1",
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        {
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          "canonical": false,
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          ],
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          "exon_count": 17,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2A",
          "gene_hgnc_id": 1460,
          "hgvs_c": "c.757-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000683332.1",
          "protein_id": "ENSP00000507006.1",
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        {
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          "gene_symbol": "CAMK2A",
          "gene_hgnc_id": 1460,
          "hgvs_c": "n.981-1G>A",
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        {
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          ],
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          "gene_symbol": "CAMK2A",
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          "transcript": "ENST00000672089.1",
          "protein_id": "ENSP00000500700.1",
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        },
        {
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          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 17,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2A",
          "gene_hgnc_id": 1460,
          "hgvs_c": "n.981-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000672404.2",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "biotype": null,
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        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 17,
          "intron_rank": 10,
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          "gene_symbol": "CAMK2A",
          "gene_hgnc_id": 1460,
          "hgvs_c": "n.981-1G>A",
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          "transcript": "ENST00000683115.1",
          "protein_id": null,
          "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": 1787,
          "mane_select": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
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            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 10,
          "intron_rank": 9,
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          "gene_symbol": "CAMK2A",
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          "hgvs_c": "n.*75-1G>A",
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          "transcript": "ENST00000683506.1",
          "protein_id": "ENSP00000508302.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 2483,
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        },
        {
          "aa_ref": null,
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          "protein_coding": false,
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          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 17,
          "intron_rank": 9,
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          "gene_symbol": "CAMK2A",
          "gene_hgnc_id": 1460,
          "hgvs_c": "n.975-1G>A",
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          "transcript": "ENST00000684093.1",
          "protein_id": null,
          "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": 4411,
          "mane_select": null,
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        },
        {
          "aa_ref": null,
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          "protein_coding": false,
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          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 17,
          "intron_rank": 9,
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          "gene_symbol": "CAMK2A",
          "gene_hgnc_id": 1460,
          "hgvs_c": "n.917-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000684465.1",
          "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": 4353,
          "mane_select": null,
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          "biotype": null,
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        }
      ],
      "gene_symbol": "CAMK2A",
      "gene_hgnc_id": 1460,
      "dbsnp": "rs1554121878",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.41999998688697815,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.9380000233650208,
      "splice_prediction_selected": "Pathogenic",
      "splice_source_selected": "dbscSNV1_RF",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.42,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 7.897,
      "phylop100way_prediction": "Pathogenic",
      "spliceai_max_score": 1,
      "spliceai_max_prediction": "Pathogenic",
      "dbscsnv_ada_score": 0.999981760802075,
      "dbscsnv_ada_prediction": "Pathogenic",
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 5,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PVS1_Moderate,PM2,PP5",
      "acmg_by_gene": [
        {
          "score": 5,
          "benign_score": 0,
          "pathogenic_score": 5,
          "criteria": [
            "PVS1_Moderate",
            "PM2",
            "PP5"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000671881.1",
          "gene_symbol": "CAMK2A",
          "hgnc_id": 1460,
          "effects": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "inheritance_mode": "AD,AR",
          "hgvs_c": "c.817-1G>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": " autosomal dominant 53,Intellectual disability",
      "clinvar_classification": "Pathogenic",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "Intellectual disability, autosomal dominant 53",
      "pathogenicity_classification_combined": "Pathogenic",
      "custom_annotations": null
    }
  ],
  "message": null
}