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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: 11-111299815-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=111299815&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 111299815,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000610738.6",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POU2AF3",
          "gene_hgnc_id": 26978,
          "hgvs_c": "c.37A>G",
          "hgvs_p": "p.Thr13Ala",
          "transcript": "ENST00000638573.1",
          "protein_id": "ENSP00000492570.1",
          "transcript_support_level": 1,
          "aa_start": 13,
          "aa_end": null,
          "aa_length": 286,
          "cds_start": 37,
          "cds_end": null,
          "cds_length": 861,
          "cdna_start": 64,
          "cdna_end": null,
          "cdna_length": 1080,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COLCA1",
          "gene_hgnc_id": 33789,
          "hgvs_c": "n.99T>C",
          "hgvs_p": null,
          "transcript": "ENST00000355430.5",
          "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": 5541,
          "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": 2,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POU2AF3",
          "gene_hgnc_id": 26978,
          "hgvs_c": "n.37A>G",
          "hgvs_p": null,
          "transcript": "ENST00000639470.1",
          "protein_id": "ENSP00000492182.1",
          "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": 1207,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POU2AF3",
          "gene_hgnc_id": 26978,
          "hgvs_c": "c.-487A>G",
          "hgvs_p": null,
          "transcript": "ENST00000526216.1",
          "protein_id": "ENSP00000434519.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 154,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 465,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1332,
          "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": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "POU2AF3",
          "gene_hgnc_id": 26978,
          "hgvs_c": "c.8-712A>G",
          "hgvs_p": null,
          "transcript": "NM_001271458.2",
          "protein_id": "NP_001258387.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 251,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 756,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1090,
          "mane_select": "ENST00000610738.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "POU2AF3",
          "gene_hgnc_id": 26978,
          "hgvs_c": "c.8-712A>G",
          "hgvs_p": null,
          "transcript": "ENST00000610738.6",
          "protein_id": "ENSP00000484135.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 251,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 756,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1090,
          "mane_select": "NM_001271458.2",
          "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": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "POU2AF3",
          "gene_hgnc_id": 26978,
          "hgvs_c": "c.-285+91A>G",
          "hgvs_p": null,
          "transcript": "ENST00000398035.6",
          "protein_id": "ENSP00000381115.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 154,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 465,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1414,
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "COLCA1",
          "gene_hgnc_id": 33789,
          "hgvs_c": "n.88+330T>C",
          "hgvs_p": null,
          "transcript": "ENST00000532918.4",
          "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": 5366,
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "COLCA1",
          "gene_hgnc_id": 33789,
          "hgvs_c": "n.219-1149T>C",
          "hgvs_p": null,
          "transcript": "ENST00000620864.1",
          "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": 8098,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POU2AF3",
          "gene_hgnc_id": 26978,
          "hgvs_c": "c.-487A>G",
          "hgvs_p": null,
          "transcript": "NM_001370484.1",
          "protein_id": "NP_001357413.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 154,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 465,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1756,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POU2AF3",
          "gene_hgnc_id": 26978,
          "hgvs_c": "c.-360A>G",
          "hgvs_p": null,
          "transcript": "XM_047426365.1",
          "protein_id": "XP_047282321.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 154,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 465,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1163,
          "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": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "POU2AF3",
          "gene_hgnc_id": 26978,
          "hgvs_c": "c.-285+91A>G",
          "hgvs_p": null,
          "transcript": "NM_001136105.3",
          "protein_id": "NP_001129577.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 154,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 465,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1463,
          "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": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "POU2AF3",
          "gene_hgnc_id": 26978,
          "hgvs_c": "c.-284-712A>G",
          "hgvs_p": null,
          "transcript": "NM_001271457.2",
          "protein_id": "NP_001258386.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 154,
          "cds_start": -4,
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          "cds_length": 465,
          "cdna_start": null,
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          "cdna_length": 1182,
          "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": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "POU2AF3",
          "gene_hgnc_id": 26978,
          "hgvs_c": "c.-284-712A>G",
          "hgvs_p": null,
          "transcript": "ENST00000614153.4",
          "protein_id": "ENSP00000481028.2",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 154,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 465,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1264,
          "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": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "POU2AF3",
          "gene_hgnc_id": 26978,
          "hgvs_c": "c.-284-712A>G",
          "hgvs_p": null,
          "transcript": "ENST00000528846.5",
          "protein_id": "ENSP00000434938.1",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 105,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 320,
          "cdna_start": null,
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          "cdna_length": 823,
          "mane_select": null,
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          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "COLCA1",
          "gene_hgnc_id": 33789,
          "hgvs_c": "n.82+128T>C",
          "hgvs_p": null,
          "transcript": "ENST00000526150.2",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 406,
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "COLCA1",
          "gene_hgnc_id": 33789,
          "hgvs_c": "n.672-1149T>C",
          "hgvs_p": null,
          "transcript": "ENST00000669257.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
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          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 5888,
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "COLCA1",
          "gene_hgnc_id": 33789,
          "hgvs_c": "n.130+93T>C",
          "hgvs_p": null,
          "transcript": "ENST00000846569.1",
          "protein_id": null,
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          "cdna_start": null,
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          "cdna_length": 454,
          "mane_select": null,
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          "feature": null
        },
        {
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          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "COLCA1",
          "gene_hgnc_id": 33789,
          "hgvs_c": "n.222-1149T>C",
          "hgvs_p": null,
          "transcript": "NR_169237.1",
          "protein_id": null,
          "transcript_support_level": null,
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          "mane_select": null,
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "COLCA1",
          "gene_hgnc_id": 33789,
          "hgvs_c": "n.88+330T>C",
          "hgvs_p": null,
          "transcript": "NR_169241.1",
          "protein_id": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 5366,
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "COLCA1",
          "gene_hgnc_id": 33789,
          "hgvs_c": "n.129+93T>C",
          "hgvs_p": null,
          "transcript": "NR_169244.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 5407,
          "mane_select": null,
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        {
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        },
        {
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          "gene_symbol": "POU2AF3",
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          "hgvs_c": "c.-285+472A>G",
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          "transcript": "XM_017017199.2",
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          "cdna_length": 1082,
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        },
        {
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          "consequences": [
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          ],
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          "exon_count": 2,
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          "gene_symbol": "COLCA1",
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          "hgvs_c": "n.-98T>C",
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          "transcript": "NR_169242.1",
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          "cdna_length": 5402,
          "mane_select": null,
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          "feature": null
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      ],
      "gene_symbol": "POU2AF3",
      "gene_hgnc_id": 26978,
      "dbsnp": "rs10891246",
      "frequency_reference_population": 0.70867276,
      "hom_count_reference_population": 239625,
      "allele_count_reference_population": 672135,
      "gnomad_exomes_af": 0.705604,
      "gnomad_genomes_af": 0.724734,
      "gnomad_exomes_ac": 561861,
      "gnomad_genomes_ac": 110274,
      "gnomad_exomes_homalt": 199513,
      "gnomad_genomes_homalt": 40112,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.0030952394008636475,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": 0.2059,
      "alphamissense_prediction": "Benign",
      "bayesdelnoaf_score": -0.85,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.017,
      "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": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000610738.6",
          "gene_symbol": "POU2AF3",
          "hgnc_id": 26978,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.8-712A>G",
          "hgvs_p": null
        },
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000355430.5",
          "gene_symbol": "COLCA1",
          "hgnc_id": 33789,
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.99T>C",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}