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GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 2-74530433-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74530433&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 74530433,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "ENST00000258080.8",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HTRA2",
          "gene_hgnc_id": 14348,
          "hgvs_c": "c.427C>G",
          "hgvs_p": "p.Pro143Ala",
          "transcript": "NM_013247.5",
          "protein_id": "NP_037379.1",
          "transcript_support_level": null,
          "aa_start": 143,
          "aa_end": null,
          "aa_length": 458,
          "cds_start": 427,
          "cds_end": null,
          "cds_length": 1377,
          "cdna_start": 501,
          "cdna_end": null,
          "cdna_length": 1785,
          "mane_select": "ENST00000258080.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HTRA2",
          "gene_hgnc_id": 14348,
          "hgvs_c": "c.427C>G",
          "hgvs_p": "p.Pro143Ala",
          "transcript": "ENST00000258080.8",
          "protein_id": "ENSP00000258080.3",
          "transcript_support_level": 1,
          "aa_start": 143,
          "aa_end": null,
          "aa_length": 458,
          "cds_start": 427,
          "cds_end": null,
          "cds_length": 1377,
          "cdna_start": 501,
          "cdna_end": null,
          "cdna_length": 1785,
          "mane_select": "NM_013247.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HTRA2",
          "gene_hgnc_id": 14348,
          "hgvs_c": "c.427C>G",
          "hgvs_p": "p.Pro143Ala",
          "transcript": "ENST00000437202.2",
          "protein_id": "ENSP00000399166.2",
          "transcript_support_level": 1,
          "aa_start": 143,
          "aa_end": null,
          "aa_length": 436,
          "cds_start": 427,
          "cds_end": null,
          "cds_length": 1311,
          "cdna_start": 427,
          "cdna_end": null,
          "cdna_length": 1518,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HTRA2",
          "gene_hgnc_id": 14348,
          "hgvs_c": "c.427C>G",
          "hgvs_p": "p.Pro143Ala",
          "transcript": "ENST00000352222.7",
          "protein_id": "ENSP00000312893.3",
          "transcript_support_level": 1,
          "aa_start": 143,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": 427,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": 444,
          "cdna_end": null,
          "cdna_length": 1450,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HTRA2",
          "gene_hgnc_id": 14348,
          "hgvs_c": "c.427C>G",
          "hgvs_p": "p.Pro143Ala",
          "transcript": "NM_001321727.1",
          "protein_id": "NP_001308656.1",
          "transcript_support_level": null,
          "aa_start": 143,
          "aa_end": null,
          "aa_length": 436,
          "cds_start": 427,
          "cds_end": null,
          "cds_length": 1311,
          "cdna_start": 1029,
          "cdna_end": null,
          "cdna_length": 2484,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HTRA2",
          "gene_hgnc_id": 14348,
          "hgvs_c": "c.427C>G",
          "hgvs_p": "p.Pro143Ala",
          "transcript": "NM_001321728.1",
          "protein_id": "NP_001308657.1",
          "transcript_support_level": null,
          "aa_start": 143,
          "aa_end": null,
          "aa_length": 426,
          "cds_start": 427,
          "cds_end": null,
          "cds_length": 1281,
          "cdna_start": 1029,
          "cdna_end": null,
          "cdna_length": 2454,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HTRA2",
          "gene_hgnc_id": 14348,
          "hgvs_c": "c.427C>G",
          "hgvs_p": "p.Pro143Ala",
          "transcript": "ENST00000696727.1",
          "protein_id": "ENSP00000512836.1",
          "transcript_support_level": null,
          "aa_start": 143,
          "aa_end": null,
          "aa_length": 426,
          "cds_start": 427,
          "cds_end": null,
          "cds_length": 1281,
          "cdna_start": 462,
          "cdna_end": null,
          "cdna_length": 1681,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HTRA2",
          "gene_hgnc_id": 14348,
          "hgvs_c": "c.427C>G",
          "hgvs_p": "p.Pro143Ala",
          "transcript": "NM_145074.2",
          "protein_id": "NP_659540.1",
          "transcript_support_level": null,
          "aa_start": 143,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": 427,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": 1029,
          "cdna_end": null,
          "cdna_length": 2259,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HTRA2",
          "gene_hgnc_id": 14348,
          "hgvs_c": "n.8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000465521.2",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 1165,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HTRA2",
          "gene_hgnc_id": 14348,
          "hgvs_c": "n.265C>G",
          "hgvs_p": null,
          "transcript": "ENST00000484352.5",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 1771,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HTRA2",
          "gene_hgnc_id": 14348,
          "hgvs_c": "n.427C>G",
          "hgvs_p": null,
          "transcript": "ENST00000696728.1",
          "protein_id": "ENSP00000512837.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1482,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HTRA2",
          "gene_hgnc_id": 14348,
          "hgvs_c": "n.32C>G",
          "hgvs_p": null,
          "transcript": "ENST00000696729.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1749,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HTRA2",
          "gene_hgnc_id": 14348,
          "hgvs_c": "n.14C>G",
          "hgvs_p": null,
          "transcript": "ENST00000696730.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 1801,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HTRA2",
          "gene_hgnc_id": 14348,
          "hgvs_c": "n.1029C>G",
          "hgvs_p": null,
          "transcript": "NR_135769.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2590,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "HTRA2",
          "gene_hgnc_id": 14348,
          "hgvs_c": "n.189-12C>G",
          "hgvs_p": null,
          "transcript": "ENST00000462909.6",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 1076,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "HTRA2",
          "gene_hgnc_id": 14348,
          "hgvs_c": "n.189-28C>G",
          "hgvs_p": null,
          "transcript": "ENST00000467961.6",
          "protein_id": null,
          "transcript_support_level": 5,
          "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": 1458,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "HTRA2",
          "gene_hgnc_id": 14348,
          "hgvs_c": "n.92-184C>G",
          "hgvs_p": null,
          "transcript": "ENST00000484881.6",
          "protein_id": null,
          "transcript_support_level": 5,
          "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": 1194,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "HTRA2",
          "gene_hgnc_id": 14348,
          "hgvs_c": "n.318-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000696725.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 1467,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "HTRA2",
          "gene_hgnc_id": 14348,
          "hgvs_c": "n.135-184C>G",
          "hgvs_p": null,
          "transcript": "ENST00000696726.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 1116,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "HTRA2",
          "gene_hgnc_id": 14348,
          "hgvs_c": "n.509-12C>G",
          "hgvs_p": null,
          "transcript": "NR_135770.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2018,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "HTRA2",
          "gene_hgnc_id": 14348,
          "hgvs_c": "n.509-28C>G",
          "hgvs_p": null,
          "transcript": "NR_135771.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2002,
          "mane_select": null,
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        },
        {
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          "protein_coding": false,
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            "intron_variant"
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          "exon_count": 9,
          "intron_rank": 1,
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          "hgvs_c": "n.509-8C>G",
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          "transcript": "NR_135772.1",
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        },
        {
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          "protein_coding": false,
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          "consequences": [
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          ],
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          "exon_count": 3,
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          "gene_symbol": "HTRA2",
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          "hgvs_c": "n.-178C>G",
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          "transcript": "ENST00000482331.1",
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          "transcript_support_level": 1,
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          "cdna_length": 980,
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        },
        {
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          "protein_coding": false,
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          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 2,
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          "gene_symbol": "HTRA2",
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          "hgvs_c": "n.-164C>G",
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          "transcript": "ENST00000482205.1",
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          "transcript_support_level": 2,
          "aa_start": null,
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          "cdna_length": 564,
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        },
        {
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          "protein_coding": false,
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          "consequences": [
            "upstream_gene_variant"
          ],
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          "exon_count": 4,
          "intron_rank": null,
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          "gene_symbol": "HTRA2",
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          "hgvs_c": "n.-217C>G",
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          "transcript": "ENST00000696731.1",
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          "cdna_length": 1461,
          "mane_select": null,
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          "biotype": null,
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        }
      ],
      "gene_symbol": "HTRA2",
      "gene_hgnc_id": 14348,
      "dbsnp": "rs387906942",
      "frequency_reference_population": 0.000003739012,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 6,
      "gnomad_exomes_af": 0.00000275394,
      "gnomad_genomes_af": 0.0000131372,
      "gnomad_exomes_ac": 4,
      "gnomad_genomes_ac": 2,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.227308452129364,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.029999999329447746,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.209,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.1252,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.22,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 2.622,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.03,
      "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": "ENST00000258080.8",
          "gene_symbol": "HTRA2",
          "hgnc_id": 14348,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.427C>G",
          "hgvs_p": "p.Pro143Ala"
        }
      ],
      "clinvar_disease": " autosomal dominant, susceptibility to,Parkinson disease 13",
      "clinvar_classification": "risk factor",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "Parkinson disease 13, autosomal dominant, susceptibility to",
      "pathogenicity_classification_combined": "risk factor",
      "custom_annotations": null
    }
  ],
  "message": null
}