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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: 16-728869-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=728869&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 728869,
      "ref": "G",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_001323636.2",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HAGHL",
          "gene_hgnc_id": 14177,
          "hgvs_c": "c.574G>T",
          "hgvs_p": "p.Val192Leu",
          "transcript": "NM_032304.4",
          "protein_id": "NP_115680.1",
          "transcript_support_level": null,
          "aa_start": 192,
          "aa_end": null,
          "aa_length": 282,
          "cds_start": 574,
          "cds_end": null,
          "cds_length": 849,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000389703.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_032304.4"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HAGHL",
          "gene_hgnc_id": 14177,
          "hgvs_c": "c.574G>T",
          "hgvs_p": "p.Val192Leu",
          "transcript": "ENST00000389703.8",
          "protein_id": "ENSP00000374353.3",
          "transcript_support_level": 1,
          "aa_start": 192,
          "aa_end": null,
          "aa_length": 282,
          "cds_start": 574,
          "cds_end": null,
          "cds_length": 849,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_032304.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000389703.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HAGHL",
          "gene_hgnc_id": 14177,
          "hgvs_c": "n.761G>T",
          "hgvs_p": null,
          "transcript": "ENST00000389701.9",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000389701.9"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HAGHL",
          "gene_hgnc_id": 14177,
          "hgvs_c": "c.574G>T",
          "hgvs_p": "p.Val192Leu",
          "transcript": "NM_001323636.2",
          "protein_id": "NP_001310565.1",
          "transcript_support_level": null,
          "aa_start": 192,
          "aa_end": null,
          "aa_length": 337,
          "cds_start": 574,
          "cds_end": null,
          "cds_length": 1014,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001323636.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HAGHL",
          "gene_hgnc_id": 14177,
          "hgvs_c": "c.574G>T",
          "hgvs_p": "p.Val192Leu",
          "transcript": "NM_207112.2",
          "protein_id": "NP_996995.1",
          "transcript_support_level": null,
          "aa_start": 192,
          "aa_end": null,
          "aa_length": 290,
          "cds_start": 574,
          "cds_end": null,
          "cds_length": 873,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_207112.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HAGHL",
          "gene_hgnc_id": 14177,
          "hgvs_c": "c.574G>T",
          "hgvs_p": "p.Val192Leu",
          "transcript": "ENST00000341413.8",
          "protein_id": "ENSP00000341952.4",
          "transcript_support_level": 2,
          "aa_start": 192,
          "aa_end": null,
          "aa_length": 290,
          "cds_start": 574,
          "cds_end": null,
          "cds_length": 873,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000341413.8"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HAGHL",
          "gene_hgnc_id": 14177,
          "hgvs_c": "c.574G>T",
          "hgvs_p": "p.Val192Leu",
          "transcript": "NM_001290137.2",
          "protein_id": "NP_001277066.1",
          "transcript_support_level": null,
          "aa_start": 192,
          "aa_end": null,
          "aa_length": 282,
          "cds_start": 574,
          "cds_end": null,
          "cds_length": 849,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001290137.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HAGHL",
          "gene_hgnc_id": 14177,
          "hgvs_c": "c.574G>T",
          "hgvs_p": "p.Val192Leu",
          "transcript": "NM_001290139.2",
          "protein_id": "NP_001277068.1",
          "transcript_support_level": null,
          "aa_start": 192,
          "aa_end": null,
          "aa_length": 282,
          "cds_start": 574,
          "cds_end": null,
          "cds_length": 849,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001290139.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HAGHL",
          "gene_hgnc_id": 14177,
          "hgvs_c": "c.574G>T",
          "hgvs_p": "p.Val192Leu",
          "transcript": "NM_001323635.2",
          "protein_id": "NP_001310564.1",
          "transcript_support_level": null,
          "aa_start": 192,
          "aa_end": null,
          "aa_length": 282,
          "cds_start": 574,
          "cds_end": null,
          "cds_length": 849,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001323635.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HAGHL",
          "gene_hgnc_id": 14177,
          "hgvs_c": "c.574G>T",
          "hgvs_p": "p.Val192Leu",
          "transcript": "ENST00000905744.1",
          "protein_id": "ENSP00000575803.1",
          "transcript_support_level": null,
          "aa_start": 192,
          "aa_end": null,
          "aa_length": 282,
          "cds_start": 574,
          "cds_end": null,
          "cds_length": 849,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000905744.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HAGHL",
          "gene_hgnc_id": 14177,
          "hgvs_c": "c.574G>T",
          "hgvs_p": "p.Val192Leu",
          "transcript": "ENST00000905745.1",
          "protein_id": "ENSP00000575804.1",
          "transcript_support_level": null,
          "aa_start": 192,
          "aa_end": null,
          "aa_length": 282,
          "cds_start": 574,
          "cds_end": null,
          "cds_length": 849,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000905745.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HAGHL",
          "gene_hgnc_id": 14177,
          "hgvs_c": "c.574G>T",
          "hgvs_p": "p.Val192Leu",
          "transcript": "ENST00000905748.1",
          "protein_id": "ENSP00000575807.1",
          "transcript_support_level": null,
          "aa_start": 192,
          "aa_end": null,
          "aa_length": 282,
          "cds_start": 574,
          "cds_end": null,
          "cds_length": 849,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000905748.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HAGHL",
          "gene_hgnc_id": 14177,
          "hgvs_c": "c.574G>T",
          "hgvs_p": "p.Val192Leu",
          "transcript": "ENST00000917737.1",
          "protein_id": "ENSP00000587796.1",
          "transcript_support_level": null,
          "aa_start": 192,
          "aa_end": null,
          "aa_length": 282,
          "cds_start": 574,
          "cds_end": null,
          "cds_length": 849,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000917737.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HAGHL",
          "gene_hgnc_id": 14177,
          "hgvs_c": "c.574G>T",
          "hgvs_p": "p.Val192Leu",
          "transcript": "ENST00000917739.1",
          "protein_id": "ENSP00000587798.1",
          "transcript_support_level": null,
          "aa_start": 192,
          "aa_end": null,
          "aa_length": 282,
          "cds_start": 574,
          "cds_end": null,
          "cds_length": 849,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000917739.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HAGHL",
          "gene_hgnc_id": 14177,
          "hgvs_c": "c.574G>T",
          "hgvs_p": "p.Val192Leu",
          "transcript": "ENST00000917740.1",
          "protein_id": "ENSP00000587799.1",
          "transcript_support_level": null,
          "aa_start": 192,
          "aa_end": null,
          "aa_length": 282,
          "cds_start": 574,
          "cds_end": null,
          "cds_length": 849,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000917740.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HAGHL",
          "gene_hgnc_id": 14177,
          "hgvs_c": "c.571G>T",
          "hgvs_p": "p.Val191Leu",
          "transcript": "ENST00000905749.1",
          "protein_id": "ENSP00000575808.1",
          "transcript_support_level": null,
          "aa_start": 191,
          "aa_end": null,
          "aa_length": 281,
          "cds_start": 571,
          "cds_end": null,
          "cds_length": 846,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000905749.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HAGHL",
          "gene_hgnc_id": 14177,
          "hgvs_c": "c.571G>T",
          "hgvs_p": "p.Val191Leu",
          "transcript": "ENST00000917738.1",
          "protein_id": "ENSP00000587797.1",
          "transcript_support_level": null,
          "aa_start": 191,
          "aa_end": null,
          "aa_length": 281,
          "cds_start": 571,
          "cds_end": null,
          "cds_length": 846,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000917738.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HAGHL",
          "gene_hgnc_id": 14177,
          "hgvs_c": "c.574G>T",
          "hgvs_p": "p.Val192Leu",
          "transcript": "NM_001365282.1",
          "protein_id": "NP_001352211.1",
          "transcript_support_level": null,
          "aa_start": 192,
          "aa_end": null,
          "aa_length": 227,
          "cds_start": 574,
          "cds_end": null,
          "cds_length": 684,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001365282.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HAGHL",
          "gene_hgnc_id": 14177,
          "hgvs_c": "c.574G>T",
          "hgvs_p": "p.Val192Leu",
          "transcript": "ENST00000561546.5",
          "protein_id": "ENSP00000456390.1",
          "transcript_support_level": 2,
          "aa_start": 192,
          "aa_end": null,
          "aa_length": 227,
          "cds_start": 574,
          "cds_end": null,
          "cds_length": 684,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000561546.5"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HAGHL",
          "gene_hgnc_id": 14177,
          "hgvs_c": "c.400G>T",
          "hgvs_p": "p.Val134Leu",
          "transcript": "ENST00000917743.1",
          "protein_id": "ENSP00000587802.1",
          "transcript_support_level": null,
          "aa_start": 134,
          "aa_end": null,
          "aa_length": 224,
          "cds_start": 400,
          "cds_end": null,
          "cds_length": 675,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000917743.1"
        },
        {
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        {
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          "consequences": [
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          "intron_rank": null,
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          "hgvs_c": "n.*44G>T",
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          "transcript": "ENST00000569385.1",
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "nonsense_mediated_decay",
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        },
        {
          "aa_ref": null,
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          "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,
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          "gene_symbol": "HAGHL",
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          "hgvs_c": "n.*44G>T",
          "hgvs_p": null,
          "transcript": "ENST00000561561.6",
          "protein_id": "ENSP00000457486.1",
          "transcript_support_level": 2,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": null,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000561561.6"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 2,
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          "exon_count": 3,
          "intron_rank": null,
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          "gene_symbol": "HAGHL",
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          "hgvs_c": "n.*44G>T",
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          "transcript": "ENST00000569385.1",
          "protein_id": "ENSP00000458711.1",
          "transcript_support_level": 2,
          "aa_start": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000569385.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
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          "exon_count": 3,
          "intron_rank": 1,
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          "gene_symbol": "HAGHL",
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          "hgvs_c": "n.94+265G>T",
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          "transcript": "ENST00000647875.1",
          "protein_id": null,
          "transcript_support_level": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "pseudogene",
          "feature": "ENST00000647875.1"
        },
        {
          "aa_ref": null,
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 5,
          "intron_rank": null,
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          "gene_symbol": "HAGHL",
          "gene_hgnc_id": 14177,
          "hgvs_c": "c.*245G>T",
          "hgvs_p": null,
          "transcript": "ENST00000567414.5",
          "protein_id": "ENSP00000460451.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 171,
          "cds_start": null,
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          "cds_length": 518,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000567414.5"
        }
      ],
      "gene_symbol": "HAGHL",
      "gene_hgnc_id": 14177,
      "dbsnp": "rs755156372",
      "frequency_reference_population": 6.862683e-7,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": 6.86268e-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": 0.22798189520835876,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.411,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.3592,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.07,
      "bayesdelnoaf_prediction": "Uncertain_significance",
      "phylop100way_score": 1.407,
      "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": "NM_001323636.2",
          "gene_symbol": "HAGHL",
          "hgnc_id": 14177,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.574G>T",
          "hgvs_p": "p.Val192Leu"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}