← 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: 14-50725941-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=50725941&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 50725941,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_182946.2",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.6204C>T",
          "hgvs_p": "p.Pro2068Pro",
          "transcript": "ENST00000382041.7",
          "protein_id": "ENSP00000371472.3",
          "transcript_support_level": 1,
          "aa_start": 2068,
          "aa_end": null,
          "aa_length": 2090,
          "cds_start": 6204,
          "cds_end": null,
          "cds_length": 6273,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000382041.7"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.4065C>T",
          "hgvs_p": "p.Pro1355Pro",
          "transcript": "ENST00000382043.8",
          "protein_id": "ENSP00000371474.4",
          "transcript_support_level": 1,
          "aa_start": 1355,
          "aa_end": null,
          "aa_length": 1377,
          "cds_start": 4065,
          "cds_end": null,
          "cds_length": 4134,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000382043.8"
        },
        {
          "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": 31,
          "intron_rank": 30,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.6192+12C>T",
          "hgvs_p": null,
          "transcript": "NM_020921.4",
          "protein_id": "NP_065972.4",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2133,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 6402,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000530997.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_020921.4"
        },
        {
          "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": 31,
          "intron_rank": 30,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.6192+12C>T",
          "hgvs_p": null,
          "transcript": "ENST00000530997.7",
          "protein_id": "ENSP00000436092.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2133,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 6402,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_020921.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000530997.7"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.6204C>T",
          "hgvs_p": "p.Pro2068Pro",
          "transcript": "NM_182946.2",
          "protein_id": "NP_891991.2",
          "transcript_support_level": null,
          "aa_start": 2068,
          "aa_end": null,
          "aa_length": 2090,
          "cds_start": 6204,
          "cds_end": null,
          "cds_length": 6273,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_182946.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.4674C>T",
          "hgvs_p": "p.Pro1558Pro",
          "transcript": "ENST00000389869.7",
          "protein_id": "ENSP00000374519.3",
          "transcript_support_level": 5,
          "aa_start": 1558,
          "aa_end": null,
          "aa_length": 1580,
          "cds_start": 4674,
          "cds_end": null,
          "cds_length": 4743,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000389869.7"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.4065C>T",
          "hgvs_p": "p.Pro1355Pro",
          "transcript": "NM_016350.5",
          "protein_id": "NP_057434.4",
          "transcript_support_level": null,
          "aa_start": 1355,
          "aa_end": null,
          "aa_length": 1377,
          "cds_start": 4065,
          "cds_end": null,
          "cds_length": 4134,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_016350.5"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.4065C>T",
          "hgvs_p": "p.Pro1355Pro",
          "transcript": "ENST00000324330.13",
          "protein_id": "ENSP00000324210.10",
          "transcript_support_level": 5,
          "aa_start": 1355,
          "aa_end": null,
          "aa_length": 1377,
          "cds_start": 4065,
          "cds_end": null,
          "cds_length": 4134,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000324330.13"
        },
        {
          "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": 31,
          "intron_rank": 30,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.6192+12C>T",
          "hgvs_p": null,
          "transcript": "ENST00000914777.1",
          "protein_id": "ENSP00000584836.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2133,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 6402,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914777.1"
        },
        {
          "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": 30,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.6102+12C>T",
          "hgvs_p": null,
          "transcript": "ENST00000872465.1",
          "protein_id": "ENSP00000542524.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2103,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 6312,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872465.1"
        },
        {
          "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": 29,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.5886+12C>T",
          "hgvs_p": null,
          "transcript": "ENST00000965312.1",
          "protein_id": "ENSP00000635371.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2031,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 6096,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965312.1"
        },
        {
          "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": 32,
          "intron_rank": 31,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.*283+12C>T",
          "hgvs_p": null,
          "transcript": "ENST00000476352.5",
          "protein_id": "ENSP00000432924.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1989,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5970,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000476352.5"
        },
        {
          "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": 29,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.*283+12C>T",
          "hgvs_p": null,
          "transcript": "ENST00000706706.1",
          "protein_id": "ENSP00000516509.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1235,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3708,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000706706.1"
        },
        {
          "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": 32,
          "intron_rank": 31,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.6282+12C>T",
          "hgvs_p": null,
          "transcript": "XM_024449622.2",
          "protein_id": "XP_024305390.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2163,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 6492,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_024449622.2"
        },
        {
          "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": 31,
          "intron_rank": 30,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.6192+12C>T",
          "hgvs_p": null,
          "transcript": "XM_047431431.1",
          "protein_id": "XP_047287387.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2133,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 6402,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047431431.1"
        },
        {
          "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": 30,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.6102+12C>T",
          "hgvs_p": null,
          "transcript": "XM_047431432.1",
          "protein_id": "XP_047287388.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2103,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 6312,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047431432.1"
        },
        {
          "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": 31,
          "intron_rank": 30,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.6066+12C>T",
          "hgvs_p": null,
          "transcript": "XM_047431433.1",
          "protein_id": "XP_047287389.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2091,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 6276,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047431433.1"
        },
        {
          "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": 30,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.5976+12C>T",
          "hgvs_p": null,
          "transcript": "XM_047431434.1",
          "protein_id": "XP_047287390.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2061,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 6186,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047431434.1"
        },
        {
          "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": 30,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.5526+12C>T",
          "hgvs_p": null,
          "transcript": "XM_047431438.1",
          "protein_id": "XP_047287394.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1911,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5736,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047431438.1"
        },
        {
          "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": 29,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.5436+12C>T",
          "hgvs_p": null,
          "transcript": "XM_047431439.1",
          "protein_id": "XP_047287395.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1881,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5646,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047431439.1"
        },
        {
          "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": 31,
          "intron_rank": 30,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.4143+12C>T",
          "hgvs_p": null,
          "transcript": "XM_011536822.3",
          "protein_id": "XP_011535124.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1450,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4353,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011536822.3"
        },
        {
          "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": 30,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.4053+12C>T",
          "hgvs_p": null,
          "transcript": "XM_047431440.1",
          "protein_id": "XP_047287396.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1420,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4263,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047431440.1"
        },
        {
          "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": 30,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.4053+12C>T",
          "hgvs_p": null,
          "transcript": "XM_047431441.1",
          "protein_id": "XP_047287397.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1420,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4263,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047431441.1"
        },
        {
          "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": 29,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.3963+12C>T",
          "hgvs_p": null,
          "transcript": "XM_047431442.1",
          "protein_id": "XP_047287398.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1390,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4173,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047431442.1"
        },
        {
          "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": 30,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.3927+12C>T",
          "hgvs_p": null,
          "transcript": "XM_047431443.1",
          "protein_id": "XP_047287399.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1378,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4137,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047431443.1"
        },
        {
          "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": 29,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.3837+12C>T",
          "hgvs_p": null,
          "transcript": "XM_047431445.1",
          "protein_id": "XP_047287401.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1348,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4047,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047431445.1"
        },
        {
          "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": 30,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.3387+12C>T",
          "hgvs_p": null,
          "transcript": "XM_047431450.1",
          "protein_id": "XP_047287406.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1198,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3597,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047431450.1"
        },
        {
          "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": 29,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.3387+12C>T",
          "hgvs_p": null,
          "transcript": "XM_047431453.1",
          "protein_id": "XP_047287409.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1198,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3597,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047431453.1"
        },
        {
          "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": 28,
          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "c.3297+12C>T",
          "hgvs_p": null,
          "transcript": "XM_047431452.1",
          "protein_id": "XP_047287408.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1168,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3507,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047431452.1"
        },
        {
          "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": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "n.462+12C>T",
          "hgvs_p": null,
          "transcript": "ENST00000555984.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": "retained_intron",
          "feature": "ENST00000555984.1"
        },
        {
          "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": 29,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "n.*2918+12C>T",
          "hgvs_p": null,
          "transcript": "ENST00000673657.1",
          "protein_id": "ENSP00000501199.1",
          "transcript_support_level": null,
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000673657.1"
        },
        {
          "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": 30,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "n.*2381+12C>T",
          "hgvs_p": null,
          "transcript": "ENST00000674030.1",
          "protein_id": "ENSP00000501260.1",
          "transcript_support_level": null,
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000674030.1"
        },
        {
          "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": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "n.720+12C>T",
          "hgvs_p": null,
          "transcript": "ENST00000706703.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": "retained_intron",
          "feature": "ENST00000706703.1"
        },
        {
          "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": 12,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "n.2434+12C>T",
          "hgvs_p": null,
          "transcript": "ENST00000706704.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": "retained_intron",
          "feature": "ENST00000706704.1"
        },
        {
          "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": 29,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "NIN",
          "gene_hgnc_id": 14906,
          "hgvs_c": "n.*1506+12C>T",
          "hgvs_p": null,
          "transcript": "ENST00000706705.1",
          "protein_id": "ENSP00000516508.1",
          "transcript_support_level": null,
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000706705.1"
        }
      ],
      "gene_symbol": "NIN",
      "gene_hgnc_id": 14906,
      "dbsnp": "rs1983764",
      "frequency_reference_population": 0.34720522,
      "hom_count_reference_population": 101532,
      "allele_count_reference_population": 560192,
      "gnomad_exomes_af": 0.354317,
      "gnomad_genomes_af": 0.278838,
      "gnomad_exomes_ac": 517802,
      "gnomad_genomes_ac": 42390,
      "gnomad_exomes_homalt": 94288,
      "gnomad_genomes_homalt": 7244,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.014000000432133675,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "REVEL",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.014,
      "revel_prediction": "Benign",
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.85,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.97,
      "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": -21,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
      "acmg_by_gene": [
        {
          "score": -21,
          "benign_score": 21,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BP7",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_182946.2",
          "gene_symbol": "NIN",
          "hgnc_id": 14906,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR,Unknown",
          "hgvs_c": "c.6204C>T",
          "hgvs_p": "p.Pro2068Pro"
        }
      ],
      "clinvar_disease": "Seckel syndrome 7,not provided",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "B:4",
      "phenotype_combined": "not provided|Seckel syndrome 7",
      "pathogenicity_classification_combined": "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.