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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: 9-8331644-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=8331644&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 8331644,
      "ref": "G",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_002839.4",
      "consequences": [
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 44,
          "exon_rank_end": null,
          "exon_count": 46,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTPRD",
          "gene_hgnc_id": 9668,
          "hgvs_c": "c.5472C>A",
          "hgvs_p": "p.Ile1824Ile",
          "transcript": "NM_002839.4",
          "protein_id": "NP_002830.1",
          "transcript_support_level": null,
          "aa_start": 1824,
          "aa_end": null,
          "aa_length": 1912,
          "cds_start": 5472,
          "cds_end": null,
          "cds_length": 5739,
          "cdna_start": 6494,
          "cdna_end": null,
          "cdna_length": 10389,
          "mane_select": "ENST00000381196.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 44,
          "exon_rank_end": null,
          "exon_count": 46,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTPRD",
          "gene_hgnc_id": 9668,
          "hgvs_c": "c.5472C>A",
          "hgvs_p": "p.Ile1824Ile",
          "transcript": "ENST00000381196.9",
          "protein_id": "ENSP00000370593.3",
          "transcript_support_level": 5,
          "aa_start": 1824,
          "aa_end": null,
          "aa_length": 1912,
          "cds_start": 5472,
          "cds_end": null,
          "cds_length": 5739,
          "cdna_start": 6494,
          "cdna_end": null,
          "cdna_length": 10389,
          "mane_select": "NM_002839.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTPRD",
          "gene_hgnc_id": 9668,
          "hgvs_c": "c.4254C>A",
          "hgvs_p": "p.Ile1418Ile",
          "transcript": "ENST00000355233.9",
          "protein_id": "ENSP00000347373.5",
          "transcript_support_level": 1,
          "aa_start": 1418,
          "aa_end": null,
          "aa_length": 1506,
          "cds_start": 4254,
          "cds_end": null,
          "cds_length": 4521,
          "cdna_start": 4357,
          "cdna_end": null,
          "cdna_length": 8251,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTPRD",
          "gene_hgnc_id": 9668,
          "hgvs_c": "c.4251C>A",
          "hgvs_p": "p.Ile1417Ile",
          "transcript": "ENST00000397606.7",
          "protein_id": "ENSP00000380731.3",
          "transcript_support_level": 1,
          "aa_start": 1417,
          "aa_end": null,
          "aa_length": 1505,
          "cds_start": 4251,
          "cds_end": null,
          "cds_length": 4518,
          "cdna_start": 4302,
          "cdna_end": null,
          "cdna_length": 5038,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTPRD",
          "gene_hgnc_id": 9668,
          "hgvs_c": "c.4251C>A",
          "hgvs_p": "p.Ile1417Ile",
          "transcript": "ENST00000486161.5",
          "protein_id": "ENSP00000417093.1",
          "transcript_support_level": 1,
          "aa_start": 1417,
          "aa_end": null,
          "aa_length": 1505,
          "cds_start": 4251,
          "cds_end": null,
          "cds_length": 4518,
          "cdna_start": 4302,
          "cdna_end": null,
          "cdna_length": 5039,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTPRD",
          "gene_hgnc_id": 9668,
          "hgvs_c": "c.4224C>A",
          "hgvs_p": "p.Ile1408Ile",
          "transcript": "ENST00000537002.5",
          "protein_id": "ENSP00000440515.2",
          "transcript_support_level": 1,
          "aa_start": 1408,
          "aa_end": null,
          "aa_length": 1496,
          "cds_start": 4224,
          "cds_end": null,
          "cds_length": 4491,
          "cdna_start": 4330,
          "cdna_end": null,
          "cdna_length": 8224,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 36,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTPRD",
          "gene_hgnc_id": 9668,
          "hgvs_c": "c.5532C>A",
          "hgvs_p": "p.Ile1844Ile",
          "transcript": "NM_001377958.1",
          "protein_id": "NP_001364887.1",
          "transcript_support_level": null,
          "aa_start": 1844,
          "aa_end": null,
          "aa_length": 1932,
          "cds_start": 5532,
          "cds_end": null,
          "cds_length": 5799,
          "cdna_start": 5865,
          "cdna_end": null,
          "cdna_length": 9760,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 35,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTPRD",
          "gene_hgnc_id": 9668,
          "hgvs_c": "c.5487C>A",
          "hgvs_p": "p.Ile1829Ile",
          "transcript": "NM_001378058.1",
          "protein_id": "NP_001364987.1",
          "transcript_support_level": null,
          "aa_start": 1829,
          "aa_end": null,
          "aa_length": 1917,
          "cds_start": 5487,
          "cds_end": null,
          "cds_length": 5754,
          "cdna_start": 5820,
          "cdna_end": null,
          "cdna_length": 9715,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTPRD",
          "gene_hgnc_id": 9668,
          "hgvs_c": "c.5472C>A",
          "hgvs_p": "p.Ile1824Ile",
          "transcript": "ENST00000356435.9",
          "protein_id": "ENSP00000348812.5",
          "transcript_support_level": 5,
          "aa_start": 1824,
          "aa_end": null,
          "aa_length": 1912,
          "cds_start": 5472,
          "cds_end": null,
          "cds_length": 5739,
          "cdna_start": 5578,
          "cdna_end": null,
          "cdna_length": 9472,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTPRD",
          "gene_hgnc_id": 9668,
          "hgvs_c": "c.5472C>A",
          "hgvs_p": "p.Ile1824Ile",
          "transcript": "ENST00000540109.5",
          "protein_id": "ENSP00000438164.1",
          "transcript_support_level": 5,
          "aa_start": 1824,
          "aa_end": null,
          "aa_length": 1912,
          "cds_start": 5472,
          "cds_end": null,
          "cds_length": 5739,
          "cdna_start": 5578,
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          "cdna_length": 6210,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTPRD",
          "gene_hgnc_id": 9668,
          "hgvs_c": "c.5472C>A",
          "hgvs_p": "p.Ile1824Ile",
          "transcript": "ENST00000850942.1",
          "protein_id": "ENSP00000521027.1",
          "transcript_support_level": null,
          "aa_start": 1824,
          "aa_end": null,
          "aa_length": 1912,
          "cds_start": 5472,
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          "cds_length": 5739,
          "cdna_start": 6655,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
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          "gene_symbol": "PTPRD",
          "gene_hgnc_id": 9668,
          "hgvs_c": "c.4263C>A",
          "hgvs_p": "p.Ile1421Ile",
          "transcript": "NM_001377946.1",
          "protein_id": "NP_001364875.1",
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          "aa_start": 1421,
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          "aa_length": 1509,
          "cds_start": 4263,
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          "feature": null
        },
        {
          "aa_ref": "I",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "PTPRD",
          "gene_hgnc_id": 9668,
          "hgvs_c": "c.4260C>A",
          "hgvs_p": "p.Ile1420Ile",
          "transcript": "ENST00000397617.8",
          "protein_id": "ENSP00000380741.4",
          "transcript_support_level": 5,
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        },
        {
          "aa_ref": "I",
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
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          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTPRD",
          "gene_hgnc_id": 9668,
          "hgvs_c": "c.4254C>A",
          "hgvs_p": "p.Ile1418Ile",
          "transcript": "NM_130392.3",
          "protein_id": "NP_569076.2",
          "transcript_support_level": null,
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        },
        {
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          "intron_rank": null,
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          "gene_symbol": "PTPRD",
          "gene_hgnc_id": 9668,
          "hgvs_c": "c.4251C>A",
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          "mane_select": null,
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        },
        {
          "aa_ref": "I",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTPRD",
          "gene_hgnc_id": 9668,
          "hgvs_c": "c.4251C>A",
          "hgvs_p": "p.Ile1417Ile",
          "transcript": "NM_130391.4",
          "protein_id": "NP_569075.2",
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          "feature": null
        },
        {
          "aa_ref": "I",
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTPRD",
          "gene_hgnc_id": 9668,
          "hgvs_c": "c.4242C>A",
          "hgvs_p": "p.Ile1414Ile",
          "transcript": "NM_001040712.2",
          "protein_id": "NP_001035802.1",
          "transcript_support_level": null,
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        {
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          "exon_count": 30,
          "intron_rank": null,
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          "gene_symbol": "PTPRD",
          "gene_hgnc_id": 9668,
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          "transcript": "ENST00000397611.7",
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        },
        {
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          "strand": false,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "PTPRD",
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          "hgvs_c": "c.4233C>A",
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          "protein_id": "NP_001364876.1",
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        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTPRD",
          "gene_hgnc_id": 9668,
          "hgvs_c": "c.4224C>A",
          "hgvs_p": "p.Ile1408Ile",
          "transcript": "NM_130393.3",
          "protein_id": "NP_569077.2",
          "transcript_support_level": null,
          "aa_start": 1408,
          "aa_end": null,
          "aa_length": 1496,
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          "cdna_start": 4327,
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          "cdna_length": 8222,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
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          "protein_id": "XP_047279616.1",
          "transcript_support_level": null,
          "aa_start": 1801,
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          "cds_start": 5403,
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          "cds_length": 5670,
          "cdna_start": 5736,
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        },
        {
          "aa_ref": "I",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 40,
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          "exon_count": 42,
          "intron_rank": null,
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          "gene_symbol": "PTPRD",
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          "hgvs_c": "c.4299C>A",
          "hgvs_p": "p.Ile1433Ile",
          "transcript": "XM_017014982.3",
          "protein_id": "XP_016870471.1",
          "transcript_support_level": null,
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          "cds_start": 4299,
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          "cdna_start": 5006,
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          "mane_select": null,
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        },
        {
          "aa_ref": "I",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 40,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
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          "gene_symbol": "PTPRD",
          "gene_hgnc_id": 9668,
          "hgvs_c": "c.4296C>A",
          "hgvs_p": "p.Ile1432Ile",
          "transcript": "XM_017014983.3",
          "protein_id": "XP_016870472.1",
          "transcript_support_level": null,
          "aa_start": 1432,
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          "cds_start": 4296,
          "cds_end": null,
          "cds_length": 4563,
          "cdna_start": 5003,
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          "mane_select": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTPRD",
          "gene_hgnc_id": 9668,
          "hgvs_c": "n.4850C>A",
          "hgvs_p": null,
          "transcript": "ENST00000651105.1",
          "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": 8740,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "PTPRD",
      "gene_hgnc_id": 9668,
      "dbsnp": "rs140620944",
      "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": -0.6399999856948853,
      "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": -0.64,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -1.865,
      "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": -3,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong,BP7",
      "acmg_by_gene": [
        {
          "score": -3,
          "benign_score": 5,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_002839.4",
          "gene_symbol": "PTPRD",
          "hgnc_id": 9668,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.5472C>A",
          "hgvs_p": "p.Ile1824Ile"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}