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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: 13-32443611-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=32443611&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "13",
      "pos": 32443611,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_001320836.3",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "N4BP2L2",
          "gene_hgnc_id": 26916,
          "hgvs_c": "n.897C>T",
          "hgvs_p": null,
          "transcript": "ENST00000380121.7",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000380121.7"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "N4BP2L2",
          "gene_hgnc_id": 26916,
          "hgvs_c": "c.2213C>T",
          "hgvs_p": "p.Thr738Ile",
          "transcript": "NM_001320836.3",
          "protein_id": "NP_001307765.1",
          "transcript_support_level": null,
          "aa_start": 738,
          "aa_end": null,
          "aa_length": 1181,
          "cds_start": 2213,
          "cds_end": null,
          "cds_length": 3546,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001320836.3"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "N4BP2L2",
          "gene_hgnc_id": 26916,
          "hgvs_c": "c.2213C>T",
          "hgvs_p": "p.Thr738Ile",
          "transcript": "NM_001387001.1",
          "protein_id": "NP_001373930.1",
          "transcript_support_level": null,
          "aa_start": 738,
          "aa_end": null,
          "aa_length": 1181,
          "cds_start": 2213,
          "cds_end": null,
          "cds_length": 3546,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001387001.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "N4BP2L2",
          "gene_hgnc_id": 26916,
          "hgvs_c": "c.2213C>T",
          "hgvs_p": "p.Thr738Ile",
          "transcript": "NM_001387002.1",
          "protein_id": "NP_001373931.1",
          "transcript_support_level": null,
          "aa_start": 738,
          "aa_end": null,
          "aa_length": 1181,
          "cds_start": 2213,
          "cds_end": null,
          "cds_length": 3546,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001387002.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "N4BP2L2",
          "gene_hgnc_id": 26916,
          "hgvs_c": "c.1922C>T",
          "hgvs_p": "p.Thr641Ile",
          "transcript": "NM_001387004.1",
          "protein_id": "NP_001373933.1",
          "transcript_support_level": null,
          "aa_start": 641,
          "aa_end": null,
          "aa_length": 1084,
          "cds_start": 1922,
          "cds_end": null,
          "cds_length": 3255,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001387004.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "N4BP2L2",
          "gene_hgnc_id": 26916,
          "hgvs_c": "c.1922C>T",
          "hgvs_p": "p.Thr641Ile",
          "transcript": "NM_001387017.1",
          "protein_id": "NP_001373946.1",
          "transcript_support_level": null,
          "aa_start": 641,
          "aa_end": null,
          "aa_length": 1084,
          "cds_start": 1922,
          "cds_end": null,
          "cds_length": 3255,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001387017.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "N4BP2L2",
          "gene_hgnc_id": 26916,
          "hgvs_c": "c.1775C>T",
          "hgvs_p": "p.Thr592Ile",
          "transcript": "NM_001387005.1",
          "protein_id": "NP_001373934.1",
          "transcript_support_level": null,
          "aa_start": 592,
          "aa_end": null,
          "aa_length": 1035,
          "cds_start": 1775,
          "cds_end": null,
          "cds_length": 3108,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001387005.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "N4BP2L2",
          "gene_hgnc_id": 26916,
          "hgvs_c": "c.1775C>T",
          "hgvs_p": "p.Thr592Ile",
          "transcript": "NM_001387006.1",
          "protein_id": "NP_001373935.1",
          "transcript_support_level": null,
          "aa_start": 592,
          "aa_end": null,
          "aa_length": 1035,
          "cds_start": 1775,
          "cds_end": null,
          "cds_length": 3108,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001387006.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "N4BP2L2",
          "gene_hgnc_id": 26916,
          "hgvs_c": "c.2213C>T",
          "hgvs_p": "p.Thr738Ile",
          "transcript": "ENST00000674422.1",
          "protein_id": "ENSP00000501390.1",
          "transcript_support_level": null,
          "aa_start": 738,
          "aa_end": null,
          "aa_length": 918,
          "cds_start": 2213,
          "cds_end": null,
          "cds_length": 2758,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000674422.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "N4BP2L2",
          "gene_hgnc_id": 26916,
          "hgvs_c": "c.974C>T",
          "hgvs_p": "p.Thr325Ile",
          "transcript": "NM_001387008.1",
          "protein_id": "NP_001373937.1",
          "transcript_support_level": null,
          "aa_start": 325,
          "aa_end": null,
          "aa_length": 768,
          "cds_start": 974,
          "cds_end": null,
          "cds_length": 2307,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001387008.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "N4BP2L2",
          "gene_hgnc_id": 26916,
          "hgvs_c": "c.974C>T",
          "hgvs_p": "p.Thr325Ile",
          "transcript": "NM_001387009.1",
          "protein_id": "NP_001373938.1",
          "transcript_support_level": null,
          "aa_start": 325,
          "aa_end": null,
          "aa_length": 768,
          "cds_start": 974,
          "cds_end": null,
          "cds_length": 2307,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001387009.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "N4BP2L2",
          "gene_hgnc_id": 26916,
          "hgvs_c": "c.926C>T",
          "hgvs_p": "p.Thr309Ile",
          "transcript": "NM_033111.5",
          "protein_id": "NP_149102.3",
          "transcript_support_level": null,
          "aa_start": 309,
          "aa_end": null,
          "aa_length": 752,
          "cds_start": 926,
          "cds_end": null,
          "cds_length": 2259,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_033111.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "N4BP2L2",
          "gene_hgnc_id": 26916,
          "hgvs_c": "c.926C>T",
          "hgvs_p": "p.Thr309Ile",
          "transcript": "ENST00000399396.7",
          "protein_id": "ENSP00000382328.3",
          "transcript_support_level": 5,
          "aa_start": 309,
          "aa_end": null,
          "aa_length": 752,
          "cds_start": 926,
          "cds_end": null,
          "cds_length": 2259,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000399396.7"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "N4BP2L2",
          "gene_hgnc_id": 26916,
          "hgvs_c": "c.881C>T",
          "hgvs_p": "p.Thr294Ile",
          "transcript": "NM_001278432.2",
          "protein_id": "NP_001265361.1",
          "transcript_support_level": null,
          "aa_start": 294,
          "aa_end": null,
          "aa_length": 737,
          "cds_start": 881,
          "cds_end": null,
          "cds_length": 2214,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001278432.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "N4BP2L2",
          "gene_hgnc_id": 26916,
          "hgvs_c": "c.881C>T",
          "hgvs_p": "p.Thr294Ile",
          "transcript": "NM_001387015.1",
          "protein_id": "NP_001373944.1",
          "transcript_support_level": null,
          "aa_start": 294,
          "aa_end": null,
          "aa_length": 737,
          "cds_start": 881,
          "cds_end": null,
          "cds_length": 2214,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001387015.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "N4BP2L2",
          "gene_hgnc_id": 26916,
          "hgvs_c": "c.881C>T",
          "hgvs_p": "p.Thr294Ile",
          "transcript": "NM_001387018.1",
          "protein_id": "NP_001373947.1",
          "transcript_support_level": null,
          "aa_start": 294,
          "aa_end": null,
          "aa_length": 737,
          "cds_start": 881,
          "cds_end": null,
          "cds_length": 2214,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001387018.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "N4BP2L2",
          "gene_hgnc_id": 26916,
          "hgvs_c": "c.881C>T",
          "hgvs_p": "p.Thr294Ile",
          "transcript": "NM_001387019.1",
          "protein_id": "NP_001373948.1",
          "transcript_support_level": null,
          "aa_start": 294,
          "aa_end": null,
          "aa_length": 737,
          "cds_start": 881,
          "cds_end": null,
          "cds_length": 2214,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001387019.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "N4BP2L2",
          "gene_hgnc_id": 26916,
          "hgvs_c": "c.881C>T",
          "hgvs_p": "p.Thr294Ile",
          "transcript": "ENST00000357505.10",
          "protein_id": "ENSP00000350104.6",
          "transcript_support_level": 2,
          "aa_start": 294,
          "aa_end": null,
          "aa_length": 737,
          "cds_start": 881,
          "cds_end": null,
          "cds_length": 2214,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000357505.10"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "N4BP2L2",
          "gene_hgnc_id": 26916,
          "hgvs_c": "c.881C>T",
          "hgvs_p": "p.Thr294Ile",
          "transcript": "ENST00000504114.5",
          "protein_id": "ENSP00000427477.1",
          "transcript_support_level": 5,
          "aa_start": 294,
          "aa_end": null,
          "aa_length": 737,
          "cds_start": 881,
          "cds_end": null,
          "cds_length": 2214,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000504114.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "N4BP2L2",
          "gene_hgnc_id": 26916,
          "hgvs_c": "c.761C>T",
          "hgvs_p": "p.Thr254Ile",
          "transcript": "NM_001387020.1",
          "protein_id": "NP_001373949.1",
          "transcript_support_level": null,
          "aa_start": 254,
          "aa_end": null,
          "aa_length": 697,
          "cds_start": 761,
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          "biotype": "pseudogene",
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        {
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          "protein_coding": false,
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          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "N4BP2L2",
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          "hgvs_c": "n.889C>T",
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          "biotype": "pseudogene",
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        {
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          "protein_coding": false,
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          "consequences": [
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          "exon_count": 7,
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          "gene_symbol": "N4BP2L2",
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          "biotype": "nonsense_mediated_decay",
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        {
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          "protein_coding": false,
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        {
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          "gene_symbol": "N4BP2L2",
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          "hgvs_c": "c.*86C>T",
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          "transcript": "ENST00000505213.5",
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          "cds_length": 2127,
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          "biotype": "protein_coding",
          "feature": "ENST00000505213.5"
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      ],
      "gene_symbol": "N4BP2L2",
      "gene_hgnc_id": 26916,
      "dbsnp": "rs147501500",
      "frequency_reference_population": 0.0003163595,
      "hom_count_reference_population": 3,
      "allele_count_reference_population": 510,
      "gnomad_exomes_af": 0.000313742,
      "gnomad_genomes_af": 0.000341449,
      "gnomad_exomes_ac": 458,
      "gnomad_genomes_ac": 52,
      "gnomad_exomes_homalt": 3,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.010247409343719482,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": null,
      "splice_prediction_selected": null,
      "splice_source_selected": null,
      "revel_score": 0.035,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.0916,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.8,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.811,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": null,
      "spliceai_max_prediction": null,
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
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      "mitotip_score": null,
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      "acmg_score": -10,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
      "acmg_by_gene": [
        {
          "score": -10,
          "benign_score": 10,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Moderate",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "NM_001320836.3",
          "gene_symbol": "N4BP2L2",
          "hgnc_id": 26916,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.2213C>T",
          "hgvs_p": "p.Thr738Ile"
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.