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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: 3-30671647-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=30671647&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 30671647,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "ENST00000295754.10",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TGFBR2",
          "gene_hgnc_id": 11773,
          "hgvs_c": "c.464C>T",
          "hgvs_p": "p.Thr155Ile",
          "transcript": "NM_003242.6",
          "protein_id": "NP_003233.4",
          "transcript_support_level": null,
          "aa_start": 155,
          "aa_end": null,
          "aa_length": 567,
          "cds_start": 464,
          "cds_end": null,
          "cds_length": 1704,
          "cdna_start": 747,
          "cdna_end": null,
          "cdna_length": 4530,
          "mane_select": "ENST00000295754.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TGFBR2",
          "gene_hgnc_id": 11773,
          "hgvs_c": "c.464C>T",
          "hgvs_p": "p.Thr155Ile",
          "transcript": "ENST00000295754.10",
          "protein_id": "ENSP00000295754.5",
          "transcript_support_level": 1,
          "aa_start": 155,
          "aa_end": null,
          "aa_length": 567,
          "cds_start": 464,
          "cds_end": null,
          "cds_length": 1704,
          "cdna_start": 747,
          "cdna_end": null,
          "cdna_length": 4530,
          "mane_select": "NM_003242.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TGFBR2",
          "gene_hgnc_id": 11773,
          "hgvs_c": "c.539C>T",
          "hgvs_p": "p.Thr180Ile",
          "transcript": "ENST00000359013.4",
          "protein_id": "ENSP00000351905.4",
          "transcript_support_level": 1,
          "aa_start": 180,
          "aa_end": null,
          "aa_length": 592,
          "cds_start": 539,
          "cds_end": null,
          "cds_length": 1779,
          "cdna_start": 822,
          "cdna_end": null,
          "cdna_length": 4605,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TGFBR2",
          "gene_hgnc_id": 11773,
          "hgvs_c": "c.647C>T",
          "hgvs_p": "p.Thr216Ile",
          "transcript": "NM_001407126.1",
          "protein_id": "NP_001394055.1",
          "transcript_support_level": null,
          "aa_start": 216,
          "aa_end": null,
          "aa_length": 628,
          "cds_start": 647,
          "cds_end": null,
          "cds_length": 1887,
          "cdna_start": 930,
          "cdna_end": null,
          "cdna_length": 4713,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TGFBR2",
          "gene_hgnc_id": 11773,
          "hgvs_c": "c.572C>T",
          "hgvs_p": "p.Thr191Ile",
          "transcript": "NM_001407127.1",
          "protein_id": "NP_001394056.1",
          "transcript_support_level": null,
          "aa_start": 191,
          "aa_end": null,
          "aa_length": 603,
          "cds_start": 572,
          "cds_end": null,
          "cds_length": 1812,
          "cdna_start": 855,
          "cdna_end": null,
          "cdna_length": 4638,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TGFBR2",
          "gene_hgnc_id": 11773,
          "hgvs_c": "c.539C>T",
          "hgvs_p": "p.Thr180Ile",
          "transcript": "NM_001024847.3",
          "protein_id": "NP_001020018.1",
          "transcript_support_level": null,
          "aa_start": 180,
          "aa_end": null,
          "aa_length": 592,
          "cds_start": 539,
          "cds_end": null,
          "cds_length": 1779,
          "cdna_start": 822,
          "cdna_end": null,
          "cdna_length": 4605,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TGFBR2",
          "gene_hgnc_id": 11773,
          "hgvs_c": "c.491C>T",
          "hgvs_p": "p.Thr164Ile",
          "transcript": "NM_001407128.1",
          "protein_id": "NP_001394057.1",
          "transcript_support_level": null,
          "aa_start": 164,
          "aa_end": null,
          "aa_length": 576,
          "cds_start": 491,
          "cds_end": null,
          "cds_length": 1731,
          "cdna_start": 1016,
          "cdna_end": null,
          "cdna_length": 4799,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TGFBR2",
          "gene_hgnc_id": 11773,
          "hgvs_c": "c.467C>T",
          "hgvs_p": "p.Thr156Ile",
          "transcript": "NM_001407129.1",
          "protein_id": "NP_001394058.1",
          "transcript_support_level": null,
          "aa_start": 156,
          "aa_end": null,
          "aa_length": 568,
          "cds_start": 467,
          "cds_end": null,
          "cds_length": 1707,
          "cdna_start": 716,
          "cdna_end": null,
          "cdna_length": 4499,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TGFBR2",
          "gene_hgnc_id": 11773,
          "hgvs_c": "c.464C>T",
          "hgvs_p": "p.Thr155Ile",
          "transcript": "NM_001407130.1",
          "protein_id": "NP_001394059.1",
          "transcript_support_level": null,
          "aa_start": 155,
          "aa_end": null,
          "aa_length": 566,
          "cds_start": 464,
          "cds_end": null,
          "cds_length": 1701,
          "cdna_start": 747,
          "cdna_end": null,
          "cdna_length": 4527,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TGFBR2",
          "gene_hgnc_id": 11773,
          "hgvs_c": "c.437C>T",
          "hgvs_p": "p.Thr146Ile",
          "transcript": "ENST00000714391.1",
          "protein_id": "ENSP00000519658.1",
          "transcript_support_level": null,
          "aa_start": 146,
          "aa_end": null,
          "aa_length": 558,
          "cds_start": 437,
          "cds_end": null,
          "cds_length": 1677,
          "cdna_start": 544,
          "cdna_end": null,
          "cdna_length": 4291,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TGFBR2",
          "gene_hgnc_id": 11773,
          "hgvs_c": "c.359C>T",
          "hgvs_p": "p.Thr120Ile",
          "transcript": "NM_001407132.1",
          "protein_id": "NP_001394061.1",
          "transcript_support_level": null,
          "aa_start": 120,
          "aa_end": null,
          "aa_length": 532,
          "cds_start": 359,
          "cds_end": null,
          "cds_length": 1599,
          "cdna_start": 608,
          "cdna_end": null,
          "cdna_length": 4391,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
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          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TGFBR2",
          "gene_hgnc_id": 11773,
          "hgvs_c": "c.359C>T",
          "hgvs_p": "p.Thr120Ile",
          "transcript": "NM_001407133.1",
          "protein_id": "NP_001394062.1",
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          "cds_start": 359,
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          "cdna_start": 925,
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          "mane_select": null,
          "mane_plus": null,
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        },
        {
          "aa_ref": "T",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "TGFBR2",
          "gene_hgnc_id": 11773,
          "hgvs_c": "c.359C>T",
          "hgvs_p": "p.Thr120Ile",
          "transcript": "NM_001407134.1",
          "protein_id": "NP_001394063.1",
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          "aa_length": 532,
          "cds_start": 359,
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          "mane_select": null,
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          "feature": null
        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 5,
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          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TGFBR2",
          "gene_hgnc_id": 11773,
          "hgvs_c": "c.359C>T",
          "hgvs_p": "p.Thr120Ile",
          "transcript": "NM_001407135.1",
          "protein_id": "NP_001394064.1",
          "transcript_support_level": null,
          "aa_start": 120,
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          "cds_start": 359,
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          "cdna_start": 850,
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          "mane_select": null,
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          "biotype": null,
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        },
        {
          "aa_ref": "T",
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          ],
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          "intron_rank": null,
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          "gene_symbol": "TGFBR2",
          "gene_hgnc_id": 11773,
          "hgvs_c": "c.359C>T",
          "hgvs_p": "p.Thr120Ile",
          "transcript": "NM_001407136.1",
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        },
        {
          "aa_ref": "T",
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 4,
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          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TGFBR2",
          "gene_hgnc_id": 11773,
          "hgvs_c": "c.359C>T",
          "hgvs_p": "p.Thr120Ile",
          "transcript": "ENST00000714389.1",
          "protein_id": "ENSP00000519656.1",
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          "aa_start": 120,
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          "aa_length": 532,
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          "cdna_start": 481,
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        },
        {
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
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          ],
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          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "TGFBR2",
          "gene_hgnc_id": 11773,
          "hgvs_c": "c.359C>T",
          "hgvs_p": "p.Thr120Ile",
          "transcript": "ENST00000714390.1",
          "protein_id": "ENSP00000519657.1",
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          "cds_start": 359,
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          "cdna_start": 470,
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          "biotype": null,
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        },
        {
          "aa_ref": "T",
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          "protein_coding": true,
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          ],
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          "gene_symbol": "TGFBR2",
          "gene_hgnc_id": 11773,
          "hgvs_c": "c.179C>T",
          "hgvs_p": "p.Thr60Ile",
          "transcript": "NM_001407137.1",
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        },
        {
          "aa_ref": "T",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TGFBR2",
          "gene_hgnc_id": 11773,
          "hgvs_c": "c.104C>T",
          "hgvs_p": "p.Thr35Ile",
          "transcript": "NM_001407138.1",
          "protein_id": "NP_001394067.1",
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          "cds_start": 104,
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          "cdna_start": 387,
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          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TGFBR2",
          "gene_hgnc_id": 11773,
          "hgvs_c": "c.416C>T",
          "hgvs_p": "p.Thr139Ile",
          "transcript": "XM_047448787.1",
          "protein_id": "XP_047304743.1",
          "transcript_support_level": null,
          "aa_start": 139,
          "aa_end": null,
          "aa_length": 551,
          "cds_start": 416,
          "cds_end": null,
          "cds_length": 1656,
          "cdna_start": 8170,
          "cdna_end": null,
          "cdna_length": 11953,
          "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": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TGFBR2",
          "gene_hgnc_id": 11773,
          "hgvs_c": "n.2060C>T",
          "hgvs_p": null,
          "transcript": "ENST00000672866.1",
          "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": 5794,
          "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": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TGFBR2",
          "gene_hgnc_id": 11773,
          "hgvs_c": "n.*193C>T",
          "hgvs_p": null,
          "transcript": "ENST00000714392.1",
          "protein_id": "ENSP00000519659.1",
          "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": 4525,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TGFBR2",
          "gene_hgnc_id": 11773,
          "hgvs_c": "n.*193C>T",
          "hgvs_p": null,
          "transcript": "ENST00000714392.1",
          "protein_id": "ENSP00000519659.1",
          "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": 4525,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "TGFBR2",
          "gene_hgnc_id": 11773,
          "hgvs_c": "c.530-16740C>T",
          "hgvs_p": null,
          "transcript": "NM_001407139.1",
          "protein_id": "NP_001394068.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 277,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 834,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3660,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "TGFBR2",
      "gene_hgnc_id": 11773,
      "dbsnp": "rs727504406",
      "frequency_reference_population": 0.00006443243,
      "hom_count_reference_population": 1,
      "allele_count_reference_population": 104,
      "gnomad_exomes_af": 0.0000690894,
      "gnomad_genomes_af": 0.0000197083,
      "gnomad_exomes_ac": 101,
      "gnomad_genomes_ac": 3,
      "gnomad_exomes_homalt": 1,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.021272778511047363,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.374,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.085,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.19,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.456,
      "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": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "PP2,BP4_Strong,BP6,BS1,BS2",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 13,
          "pathogenic_score": 1,
          "criteria": [
            "PP2",
            "BP4_Strong",
            "BP6",
            "BS1",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000295754.10",
          "gene_symbol": "TGFBR2",
          "hgnc_id": 11773,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.464C>T",
          "hgvs_p": "p.Thr155Ile"
        }
      ],
      "clinvar_disease": "Familial thoracic aortic aneurysm and aortic dissection,Loeys-Dietz syndrome 2,not provided,not specified",
      "clinvar_classification": "Conflicting classifications of pathogenicity",
      "clinvar_review_status": "criteria provided, conflicting classifications",
      "clinvar_submissions_summary": "US:1 LB:4 B:1",
      "phenotype_combined": "not specified|Familial thoracic aortic aneurysm and aortic dissection|not provided|Loeys-Dietz syndrome 2",
      "pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
      "custom_annotations": null
    }
  ],
  "message": null
}