← Back to variant description 
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 12-56346433-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56346433&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
  "variants": [
    {
      "chr": "12",
      "pos": 56346433,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000314128.9",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 21,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "c.2044+9C>T",
          "hgvs_p": null,
          "transcript": "NM_005419.4",
          "protein_id": "NP_005410.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 851,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2556,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4405,
          "mane_select": "ENST00000314128.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 21,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "c.2044+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000314128.9",
          "protein_id": "ENSP00000315768.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 851,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2556,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4405,
          "mane_select": "NM_005419.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "n.974+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000556539.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "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": 3278,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 21,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "c.2032+9C>T",
          "hgvs_p": null,
          "transcript": "NM_198332.2",
          "protein_id": "NP_938146.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 847,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2544,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4393,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 21,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "c.2032+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000557235.5",
          "protein_id": "ENSP00000450751.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 847,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2544,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3073,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "c.2023+9C>T",
          "hgvs_p": null,
          "transcript": "NM_001385114.1",
          "protein_id": "NP_001372043.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 844,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2535,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4384,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "c.2011+9C>T",
          "hgvs_p": null,
          "transcript": "NM_001385110.1",
          "protein_id": "NP_001372039.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 840,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2523,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4372,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 21,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "c.2002+9C>T",
          "hgvs_p": null,
          "transcript": "NM_001385115.1",
          "protein_id": "NP_001372044.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 837,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2514,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4363,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "c.1945+9C>T",
          "hgvs_p": null,
          "transcript": "NM_001385111.1",
          "protein_id": "NP_001372040.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 818,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2457,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4306,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "c.1945+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000651915.1",
          "protein_id": "ENSP00000498876.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 818,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2457,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4319,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 21,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "c.2044+9C>T",
          "hgvs_p": null,
          "transcript": "NM_001385113.1",
          "protein_id": "NP_001372042.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 807,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2424,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4398,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "c.1912+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000698186.1",
          "protein_id": "ENSP00000513598.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 807,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2424,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4360,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 21,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "c.2044+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000698193.1",
          "protein_id": "ENSP00000513600.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 806,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2421,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4025,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "n.1634+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000555488.2",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": 4215,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "n.2816+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000556140.6",
          "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": 4419,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "n.*1478+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000650805.1",
          "protein_id": "ENSP00000498710.1",
          "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": 4465,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "n.2697+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000651078.1",
          "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": 4985,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 21,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "n.*1718+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000651301.1",
          "protein_id": "ENSP00000498470.1",
          "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": 4670,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "n.779+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000651339.1",
          "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": 2050,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "n.2433+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000651805.1",
          "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": 4721,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "n.2484+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000651934.1",
          "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": 4772,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "n.2159+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000651967.1",
          "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": 3442,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "n.2562+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000652091.1",
          "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": 4850,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "n.*1610+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000652398.1",
          "protein_id": "ENSP00000499022.1",
          "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": 3131,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "n.*1170+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000652624.1",
          "protein_id": "ENSP00000499108.1",
          "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": 4124,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 21,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "n.*1799+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000652741.1",
          "protein_id": "ENSP00000498704.1",
          "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": 4740,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "n.2635+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000698178.1",
          "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": 4939,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "n.2587+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000698179.1",
          "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": 4882,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 21,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "n.*1799+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000698180.1",
          "protein_id": "ENSP00000513597.1",
          "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": 4821,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "n.3081+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000698181.1",
          "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": 5376,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "n.2854+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000698182.1",
          "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": 5149,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "n.3314+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000698183.1",
          "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": 5609,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "n.3088+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000698184.1",
          "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": 5383,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "n.3247+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000698185.1",
          "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": 5542,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "n.2370+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000698187.1",
          "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": 4654,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "n.2711+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000698188.1",
          "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": 5006,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "n.3828+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000698189.1",
          "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": 6404,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "n.2702+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000698190.1",
          "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": 4351,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "n.2635+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000698191.1",
          "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": 4284,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": 21,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "n.2044+9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000698192.1",
          "protein_id": "ENSP00000513599.1",
          "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": 3846,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 21,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "c.2068+9C>T",
          "hgvs_p": null,
          "transcript": "XM_011538697.3",
          "protein_id": "XP_011536999.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 859,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2580,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4429,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 21,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "c.2056+9C>T",
          "hgvs_p": null,
          "transcript": "XM_011538698.4",
          "protein_id": "XP_011537000.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 855,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2568,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4417,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "c.1099+9C>T",
          "hgvs_p": null,
          "transcript": "XM_047429469.1",
          "protein_id": "XP_047285425.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 536,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1611,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3500,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STAT2",
          "gene_hgnc_id": 11363,
          "hgvs_c": "n.*245C>T",
          "hgvs_p": null,
          "transcript": "ENST00000557199.1",
          "protein_id": null,
          "transcript_support_level": 4,
          "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": 662,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "STAT2",
      "gene_hgnc_id": 11363,
      "dbsnp": "rs200444661",
      "frequency_reference_population": 0.00015798688,
      "hom_count_reference_population": 1,
      "allele_count_reference_population": 255,
      "gnomad_exomes_af": 0.000154605,
      "gnomad_genomes_af": 0.000190449,
      "gnomad_exomes_ac": 226,
      "gnomad_genomes_ac": 29,
      "gnomad_exomes_homalt": 1,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8600000143051147,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.86,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.148,
      "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": -10,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Moderate,BS1",
      "acmg_by_gene": [
        {
          "score": -10,
          "benign_score": 10,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Moderate",
            "BS1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000314128.9",
          "gene_symbol": "STAT2",
          "hgnc_id": 11363,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.2044+9C>T",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}