← Back to variant description

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: 21-32631044-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=32631044&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "21",
      "pos": 32631044,
      "ref": "G",
      "alt": "T",
      "effect": "3_prime_UTR_variant",
      "transcript": "ENST00000674351.1",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4790C>A",
          "hgvs_p": "p.Thr1597Lys",
          "transcript": "ENST00000433931.7",
          "protein_id": "ENSP00000409667.2",
          "transcript_support_level": 1,
          "aa_start": 1597,
          "aa_end": null,
          "aa_length": 1612,
          "cds_start": 4790,
          "cds_end": null,
          "cds_length": 4839,
          "cdna_start": 4790,
          "cdna_end": null,
          "cdna_length": 7075,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4532C>A",
          "hgvs_p": "p.Thr1511Lys",
          "transcript": "ENST00000630077.3",
          "protein_id": "ENSP00000487560.1",
          "transcript_support_level": 1,
          "aa_start": 1511,
          "aa_end": null,
          "aa_length": 1526,
          "cds_start": 4532,
          "cds_end": null,
          "cds_length": 4581,
          "cdna_start": 4639,
          "cdna_end": null,
          "cdna_length": 6920,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.*761C>A",
          "hgvs_p": null,
          "transcript": "NM_203446.3",
          "protein_id": "NP_982271.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1311,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3936,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7068,
          "mane_select": "ENST00000674351.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.*761C>A",
          "hgvs_p": null,
          "transcript": "ENST00000674351.1",
          "protein_id": "ENSP00000501530.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1311,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3936,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7068,
          "mane_select": "NM_203446.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.*761C>A",
          "hgvs_p": null,
          "transcript": "ENST00000382499.7",
          "protein_id": "ENSP00000371939.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1350,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4053,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7099,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4790C>A",
          "hgvs_p": "p.Thr1597Lys",
          "transcript": "NM_003895.4",
          "protein_id": "NP_003886.3",
          "transcript_support_level": null,
          "aa_start": 1597,
          "aa_end": null,
          "aa_length": 1612,
          "cds_start": 4790,
          "cds_end": null,
          "cds_length": 4839,
          "cdna_start": 5144,
          "cdna_end": null,
          "cdna_length": 7425,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4673C>A",
          "hgvs_p": "p.Thr1558Lys",
          "transcript": "ENST00000674308.1",
          "protein_id": "ENSP00000501426.1",
          "transcript_support_level": null,
          "aa_start": 1558,
          "aa_end": null,
          "aa_length": 1573,
          "cds_start": 4673,
          "cds_end": null,
          "cds_length": 4722,
          "cdna_start": 4763,
          "cdna_end": null,
          "cdna_length": 7044,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4532C>A",
          "hgvs_p": "p.Thr1511Lys",
          "transcript": "NM_001160306.2",
          "protein_id": "NP_001153778.1",
          "transcript_support_level": null,
          "aa_start": 1511,
          "aa_end": null,
          "aa_length": 1526,
          "cds_start": 4532,
          "cds_end": null,
          "cds_length": 4581,
          "cdna_start": 4639,
          "cdna_end": null,
          "cdna_length": 6920,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4775C>A",
          "hgvs_p": "p.Thr1592Lys",
          "transcript": "XM_017028495.3",
          "protein_id": "XP_016883984.1",
          "transcript_support_level": null,
          "aa_start": 1592,
          "aa_end": null,
          "aa_length": 1607,
          "cds_start": 4775,
          "cds_end": null,
          "cds_length": 4824,
          "cdna_start": 4775,
          "cdna_end": null,
          "cdna_length": 7060,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4751C>A",
          "hgvs_p": "p.Thr1584Lys",
          "transcript": "XM_047441034.1",
          "protein_id": "XP_047296990.1",
          "transcript_support_level": null,
          "aa_start": 1584,
          "aa_end": null,
          "aa_length": 1599,
          "cds_start": 4751,
          "cds_end": null,
          "cds_length": 4800,
          "cdna_start": 4751,
          "cdna_end": null,
          "cdna_length": 7036,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4742C>A",
          "hgvs_p": "p.Thr1581Lys",
          "transcript": "XM_017028497.3",
          "protein_id": "XP_016883986.1",
          "transcript_support_level": null,
          "aa_start": 1581,
          "aa_end": null,
          "aa_length": 1596,
          "cds_start": 4742,
          "cds_end": null,
          "cds_length": 4791,
          "cdna_start": 4742,
          "cdna_end": null,
          "cdna_length": 7027,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4712C>A",
          "hgvs_p": "p.Thr1571Lys",
          "transcript": "XM_047441035.1",
          "protein_id": "XP_047296991.1",
          "transcript_support_level": null,
          "aa_start": 1571,
          "aa_end": null,
          "aa_length": 1586,
          "cds_start": 4712,
          "cds_end": null,
          "cds_length": 4761,
          "cdna_start": 4712,
          "cdna_end": null,
          "cdna_length": 6997,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4688C>A",
          "hgvs_p": "p.Thr1563Lys",
          "transcript": "XM_047441036.1",
          "protein_id": "XP_047296992.1",
          "transcript_support_level": null,
          "aa_start": 1563,
          "aa_end": null,
          "aa_length": 1578,
          "cds_start": 4688,
          "cds_end": null,
          "cds_length": 4737,
          "cdna_start": 4688,
          "cdna_end": null,
          "cdna_length": 6973,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4673C>A",
          "hgvs_p": "p.Thr1558Lys",
          "transcript": "XM_047441037.1",
          "protein_id": "XP_047296993.1",
          "transcript_support_level": null,
          "aa_start": 1558,
          "aa_end": null,
          "aa_length": 1573,
          "cds_start": 4673,
          "cds_end": null,
          "cds_length": 4722,
          "cdna_start": 4673,
          "cdna_end": null,
          "cdna_length": 6958,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4649C>A",
          "hgvs_p": "p.Thr1550Lys",
          "transcript": "XM_017028499.3",
          "protein_id": "XP_016883988.1",
          "transcript_support_level": null,
          "aa_start": 1550,
          "aa_end": null,
          "aa_length": 1565,
          "cds_start": 4649,
          "cds_end": null,
          "cds_length": 4698,
          "cdna_start": 4649,
          "cdna_end": null,
          "cdna_length": 6934,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4640C>A",
          "hgvs_p": "p.Thr1547Lys",
          "transcript": "XM_047441038.1",
          "protein_id": "XP_047296994.1",
          "transcript_support_level": null,
          "aa_start": 1547,
          "aa_end": null,
          "aa_length": 1562,
          "cds_start": 4640,
          "cds_end": null,
          "cds_length": 4689,
          "cdna_start": 4640,
          "cdna_end": null,
          "cdna_length": 6925,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4571C>A",
          "hgvs_p": "p.Thr1524Lys",
          "transcript": "XM_047441039.1",
          "protein_id": "XP_047296995.1",
          "transcript_support_level": null,
          "aa_start": 1524,
          "aa_end": null,
          "aa_length": 1539,
          "cds_start": 4571,
          "cds_end": null,
          "cds_length": 4620,
          "cdna_start": 4696,
          "cdna_end": null,
          "cdna_length": 6981,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4556C>A",
          "hgvs_p": "p.Thr1519Lys",
          "transcript": "XM_047441040.1",
          "protein_id": "XP_047296996.1",
          "transcript_support_level": null,
          "aa_start": 1519,
          "aa_end": null,
          "aa_length": 1534,
          "cds_start": 4556,
          "cds_end": null,
          "cds_length": 4605,
          "cdna_start": 4681,
          "cdna_end": null,
          "cdna_length": 6966,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4178C>A",
          "hgvs_p": "p.Thr1393Lys",
          "transcript": "XM_047441041.1",
          "protein_id": "XP_047296997.1",
          "transcript_support_level": null,
          "aa_start": 1393,
          "aa_end": null,
          "aa_length": 1408,
          "cds_start": 4178,
          "cds_end": null,
          "cds_length": 4227,
          "cdna_start": 4271,
          "cdna_end": null,
          "cdna_length": 6556,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.*761C>A",
          "hgvs_p": null,
          "transcript": "ENST00000674204.1",
          "protein_id": "ENSP00000501504.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1311,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3936,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7085,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.*761C>A",
          "hgvs_p": null,
          "transcript": "NM_001160302.2",
          "protein_id": "NP_001153774.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1295,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3888,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7037,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.*761C>A",
          "hgvs_p": null,
          "transcript": "ENST00000357345.7",
          "protein_id": "ENSP00000349903.3",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1295,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3888,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7059,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.*761C>A",
          "hgvs_p": null,
          "transcript": "ENST00000382491.7",
          "protein_id": "ENSP00000371931.4",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1264,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3795,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6958,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.*761C>A",
          "hgvs_p": null,
          "transcript": "ENST00000438952.5",
          "protein_id": "ENSP00000388869.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 186,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 561,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3604,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.*735C>A",
          "hgvs_p": null,
          "transcript": "XM_047441046.1",
          "protein_id": "XP_047297002.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1318,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3957,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6973,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.*735C>A",
          "hgvs_p": null,
          "transcript": "XM_047441047.1",
          "protein_id": "XP_047297003.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1310,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3933,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6949,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.*735C>A",
          "hgvs_p": null,
          "transcript": "XM_047441050.1",
          "protein_id": "XP_047297006.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1271,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3816,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6957,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "SYNJ1",
      "gene_hgnc_id": 11503,
      "dbsnp": "rs111516740",
      "frequency_reference_population": 6.840797e-7,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": 6.8408e-7,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 1,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.1299159824848175,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.033,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.1421,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.45,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.981,
      "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": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4_Moderate",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000674351.1",
          "gene_symbol": "SYNJ1",
          "hgnc_id": 11503,
          "effects": [
            "3_prime_UTR_variant"
          ],
          "inheritance_mode": "AR,AD",
          "hgvs_c": "c.*761C>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}