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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: 5-138932622-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=138932622&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 138932622,
      "ref": "A",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_001903.5",
      "consequences": [
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTNNA1",
          "gene_hgnc_id": 2509,
          "hgvs_c": "c.2343A>C",
          "hgvs_p": "p.Gln781His",
          "transcript": "NM_001903.5",
          "protein_id": "NP_001894.2",
          "transcript_support_level": null,
          "aa_start": 781,
          "aa_end": null,
          "aa_length": 906,
          "cds_start": 2343,
          "cds_end": null,
          "cds_length": 2721,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000302763.12",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001903.5"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTNNA1",
          "gene_hgnc_id": 2509,
          "hgvs_c": "c.2343A>C",
          "hgvs_p": "p.Gln781His",
          "transcript": "ENST00000302763.12",
          "protein_id": "ENSP00000304669.7",
          "transcript_support_level": 1,
          "aa_start": 781,
          "aa_end": null,
          "aa_length": 906,
          "cds_start": 2343,
          "cds_end": null,
          "cds_length": 2721,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001903.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000302763.12"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTNNA1",
          "gene_hgnc_id": 2509,
          "hgvs_c": "c.2343A>C",
          "hgvs_p": "p.Gln781His",
          "transcript": "ENST00000518825.5",
          "protein_id": "ENSP00000427821.1",
          "transcript_support_level": 1,
          "aa_start": 781,
          "aa_end": null,
          "aa_length": 841,
          "cds_start": 2343,
          "cds_end": null,
          "cds_length": 2526,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000518825.5"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTNNA1",
          "gene_hgnc_id": 2509,
          "hgvs_c": "c.1233A>C",
          "hgvs_p": "p.Gln411His",
          "transcript": "ENST00000540387.5",
          "protein_id": "ENSP00000438476.1",
          "transcript_support_level": 1,
          "aa_start": 411,
          "aa_end": null,
          "aa_length": 536,
          "cds_start": 1233,
          "cds_end": null,
          "cds_length": 1611,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000540387.5"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTNNA1",
          "gene_hgnc_id": 2509,
          "hgvs_c": "c.2502A>C",
          "hgvs_p": "p.Gln834His",
          "transcript": "ENST00000965845.1",
          "protein_id": "ENSP00000635904.1",
          "transcript_support_level": null,
          "aa_start": 834,
          "aa_end": null,
          "aa_length": 959,
          "cds_start": 2502,
          "cds_end": null,
          "cds_length": 2880,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965845.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTNNA1",
          "gene_hgnc_id": 2509,
          "hgvs_c": "c.2487A>C",
          "hgvs_p": "p.Gln829His",
          "transcript": "ENST00000930310.1",
          "protein_id": "ENSP00000600369.1",
          "transcript_support_level": null,
          "aa_start": 829,
          "aa_end": null,
          "aa_length": 954,
          "cds_start": 2487,
          "cds_end": null,
          "cds_length": 2865,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000930310.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTNNA1",
          "gene_hgnc_id": 2509,
          "hgvs_c": "c.2343A>C",
          "hgvs_p": "p.Gln781His",
          "transcript": "NM_001323982.2",
          "protein_id": "NP_001310911.1",
          "transcript_support_level": null,
          "aa_start": 781,
          "aa_end": null,
          "aa_length": 906,
          "cds_start": 2343,
          "cds_end": null,
          "cds_length": 2721,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001323982.2"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTNNA1",
          "gene_hgnc_id": 2509,
          "hgvs_c": "c.2343A>C",
          "hgvs_p": "p.Gln781His",
          "transcript": "NM_001323983.1",
          "protein_id": "NP_001310912.1",
          "transcript_support_level": null,
          "aa_start": 781,
          "aa_end": null,
          "aa_length": 906,
          "cds_start": 2343,
          "cds_end": null,
          "cds_length": 2721,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001323983.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTNNA1",
          "gene_hgnc_id": 2509,
          "hgvs_c": "c.2343A>C",
          "hgvs_p": "p.Gln781His",
          "transcript": "NM_001323984.2",
          "protein_id": "NP_001310913.1",
          "transcript_support_level": null,
          "aa_start": 781,
          "aa_end": null,
          "aa_length": 906,
          "cds_start": 2343,
          "cds_end": null,
          "cds_length": 2721,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001323984.2"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTNNA1",
          "gene_hgnc_id": 2509,
          "hgvs_c": "c.2343A>C",
          "hgvs_p": "p.Gln781His",
          "transcript": "ENST00000889697.1",
          "protein_id": "ENSP00000559756.1",
          "transcript_support_level": null,
          "aa_start": 781,
          "aa_end": null,
          "aa_length": 906,
          "cds_start": 2343,
          "cds_end": null,
          "cds_length": 2721,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000889697.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTNNA1",
          "gene_hgnc_id": 2509,
          "hgvs_c": "c.2343A>C",
          "hgvs_p": "p.Gln781His",
          "transcript": "ENST00000889698.1",
          "protein_id": "ENSP00000559757.1",
          "transcript_support_level": null,
          "aa_start": 781,
          "aa_end": null,
          "aa_length": 906,
          "cds_start": 2343,
          "cds_end": null,
          "cds_length": 2721,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000889698.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTNNA1",
          "gene_hgnc_id": 2509,
          "hgvs_c": "c.2343A>C",
          "hgvs_p": "p.Gln781His",
          "transcript": "ENST00000889703.1",
          "protein_id": "ENSP00000559762.1",
          "transcript_support_level": null,
          "aa_start": 781,
          "aa_end": null,
          "aa_length": 906,
          "cds_start": 2343,
          "cds_end": null,
          "cds_length": 2721,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000889703.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTNNA1",
          "gene_hgnc_id": 2509,
          "hgvs_c": "c.2343A>C",
          "hgvs_p": "p.Gln781His",
          "transcript": "ENST00000889706.1",
          "protein_id": "ENSP00000559765.1",
          "transcript_support_level": null,
          "aa_start": 781,
          "aa_end": null,
          "aa_length": 906,
          "cds_start": 2343,
          "cds_end": null,
          "cds_length": 2721,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000889706.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTNNA1",
          "gene_hgnc_id": 2509,
          "hgvs_c": "c.2343A>C",
          "hgvs_p": "p.Gln781His",
          "transcript": "ENST00000889707.1",
          "protein_id": "ENSP00000559766.1",
          "transcript_support_level": null,
          "aa_start": 781,
          "aa_end": null,
          "aa_length": 906,
          "cds_start": 2343,
          "cds_end": null,
          "cds_length": 2721,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000889707.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTNNA1",
          "gene_hgnc_id": 2509,
          "hgvs_c": "c.2343A>C",
          "hgvs_p": "p.Gln781His",
          "transcript": "ENST00000889708.1",
          "protein_id": "ENSP00000559767.1",
          "transcript_support_level": null,
          "aa_start": 781,
          "aa_end": null,
          "aa_length": 906,
          "cds_start": 2343,
          "cds_end": null,
          "cds_length": 2721,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000889708.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTNNA1",
          "gene_hgnc_id": 2509,
          "hgvs_c": "c.2343A>C",
          "hgvs_p": "p.Gln781His",
          "transcript": "ENST00000889709.1",
          "protein_id": "ENSP00000559768.1",
          "transcript_support_level": null,
          "aa_start": 781,
          "aa_end": null,
          "aa_length": 906,
          "cds_start": 2343,
          "cds_end": null,
          "cds_length": 2721,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000889709.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTNNA1",
          "gene_hgnc_id": 2509,
          "hgvs_c": "c.2343A>C",
          "hgvs_p": "p.Gln781His",
          "transcript": "ENST00000889710.1",
          "protein_id": "ENSP00000559769.1",
          "transcript_support_level": null,
          "aa_start": 781,
          "aa_end": null,
          "aa_length": 906,
          "cds_start": 2343,
          "cds_end": null,
          "cds_length": 2721,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000889710.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTNNA1",
          "gene_hgnc_id": 2509,
          "hgvs_c": "c.2343A>C",
          "hgvs_p": "p.Gln781His",
          "transcript": "ENST00000889712.1",
          "protein_id": "ENSP00000559771.1",
          "transcript_support_level": null,
          "aa_start": 781,
          "aa_end": null,
          "aa_length": 906,
          "cds_start": 2343,
          "cds_end": null,
          "cds_length": 2721,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000889712.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTNNA1",
          "gene_hgnc_id": 2509,
          "hgvs_c": "c.2343A>C",
          "hgvs_p": "p.Gln781His",
          "transcript": "ENST00000889714.1",
          "protein_id": "ENSP00000559773.1",
          "transcript_support_level": null,
          "aa_start": 781,
          "aa_end": null,
          "aa_length": 906,
          "cds_start": 2343,
          "cds_end": null,
          "cds_length": 2721,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000889714.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTNNA1",
          "gene_hgnc_id": 2509,
          "hgvs_c": "c.2343A>C",
          "hgvs_p": "p.Gln781His",
          "transcript": "ENST00000889715.1",
          "protein_id": "ENSP00000559774.1",
          "transcript_support_level": null,
          "aa_start": 781,
          "aa_end": null,
          "aa_length": 906,
          "cds_start": 2343,
          "cds_end": null,
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          "transcript": "NM_001324007.1",
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          "biotype": "protein_coding",
          "feature": "NM_001324007.1"
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        {
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          "protein_coding": true,
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          "gene_symbol": "CTNNA1",
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          "hgvs_c": "c.894A>C",
          "hgvs_p": "p.Gln298His",
          "transcript": "NM_001324008.1",
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001324008.1"
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        {
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          "gene_symbol": "CTNNA1",
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          "hgvs_c": "c.894A>C",
          "hgvs_p": "p.Gln298His",
          "transcript": "NM_001324009.1",
          "protein_id": "NP_001310938.1",
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          "cds_start": 894,
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          "biotype": "protein_coding",
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        {
          "aa_ref": "Q",
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          "gene_symbol": "CTNNA1",
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          "hgvs_c": "c.894A>C",
          "hgvs_p": "p.Gln298His",
          "transcript": "NM_001324010.1",
          "protein_id": "NP_001310939.1",
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          "cds_start": 894,
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          "intron_rank": 16,
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          "gene_symbol": "CTNNA1",
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          "hgvs_c": "c.2299-25A>C",
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          "transcript": "ENST00000965852.1",
          "protein_id": "ENSP00000635911.1",
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          "cds_start": null,
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        {
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          "exon_count": 11,
          "intron_rank": 10,
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          "gene_symbol": "CTNNA1",
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          "hgvs_c": "c.1189-1180A>C",
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          "transcript": "NM_001324001.1",
          "protein_id": "NP_001310930.1",
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          "cds_start": null,
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          "biotype": "protein_coding",
          "feature": "NM_001324001.1"
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        {
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          ],
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          "intron_rank": 2,
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          "gene_symbol": "CTNNA1",
          "gene_hgnc_id": 2509,
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          "transcript": "ENST00000520520.1",
          "protein_id": "ENSP00000430076.1",
          "transcript_support_level": 3,
          "aa_start": null,
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          "aa_length": 136,
          "cds_start": null,
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          "cds_length": 411,
          "cdna_start": null,
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          "cdna_length": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000520520.1"
        },
        {
          "aa_ref": null,
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          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 16,
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          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "CTNNA1",
          "gene_hgnc_id": 2509,
          "hgvs_c": "n.*2033A>C",
          "hgvs_p": null,
          "transcript": "ENST00000521724.5",
          "protein_id": "ENSP00000431033.1",
          "transcript_support_level": 2,
          "aa_start": null,
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          "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": "ENST00000521724.5"
        },
        {
          "aa_ref": null,
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          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
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          "exon_count": 2,
          "intron_rank": null,
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          "gene_symbol": "CTNNA1",
          "gene_hgnc_id": 2509,
          "hgvs_c": "n.722A>C",
          "hgvs_p": null,
          "transcript": "ENST00000522792.1",
          "protein_id": null,
          "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": "retained_intron",
          "feature": "ENST00000522792.1"
        },
        {
          "aa_ref": null,
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          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTNNA1",
          "gene_hgnc_id": 2509,
          "hgvs_c": "n.*2033A>C",
          "hgvs_p": null,
          "transcript": "ENST00000521724.5",
          "protein_id": "ENSP00000431033.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
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          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000521724.5"
        }
      ],
      "gene_symbol": "CTNNA1",
      "gene_hgnc_id": 2509,
      "dbsnp": "rs75050399",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.8205176591873169,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.425,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.821,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.08,
      "bayesdelnoaf_prediction": "Uncertain_significance",
      "phylop100way_score": 3.691,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 3,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,PP3",
      "acmg_by_gene": [
        {
          "score": 3,
          "benign_score": 0,
          "pathogenic_score": 3,
          "criteria": [
            "PM2",
            "PP3"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001903.5",
          "gene_symbol": "CTNNA1",
          "hgnc_id": 2509,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.2343A>C",
          "hgvs_p": "p.Gln781His"
        }
      ],
      "clinvar_disease": "not provided",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not provided",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}