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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: 20-19975363-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=19975363&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "20",
      "pos": 19975363,
      "ref": "G",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "ENST00000255006.12",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RIN2",
          "gene_hgnc_id": 18750,
          "hgvs_c": "c.1338G>C",
          "hgvs_p": "p.Arg446Arg",
          "transcript": "NM_018993.4",
          "protein_id": "NP_061866.1",
          "transcript_support_level": null,
          "aa_start": 446,
          "aa_end": null,
          "aa_length": 895,
          "cds_start": 1338,
          "cds_end": null,
          "cds_length": 2688,
          "cdna_start": 1570,
          "cdna_end": null,
          "cdna_length": 4440,
          "mane_select": "ENST00000255006.12",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RIN2",
          "gene_hgnc_id": 18750,
          "hgvs_c": "c.1338G>C",
          "hgvs_p": "p.Arg446Arg",
          "transcript": "ENST00000255006.12",
          "protein_id": "ENSP00000255006.7",
          "transcript_support_level": 2,
          "aa_start": 446,
          "aa_end": null,
          "aa_length": 895,
          "cds_start": 1338,
          "cds_end": null,
          "cds_length": 2688,
          "cdna_start": 1570,
          "cdna_end": null,
          "cdna_length": 4440,
          "mane_select": "NM_018993.4",
          "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": 5,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RIN2",
          "gene_hgnc_id": 18750,
          "hgvs_c": "n.1182G>C",
          "hgvs_p": null,
          "transcript": "ENST00000484638.1",
          "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": 4053,
          "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": 8,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "RIN2",
          "gene_hgnc_id": 18750,
          "hgvs_c": "c.463+14552G>C",
          "hgvs_p": null,
          "transcript": "ENST00000440354.2",
          "protein_id": "ENSP00000391239.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 462,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1389,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1837,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RIN2",
          "gene_hgnc_id": 18750,
          "hgvs_c": "c.1485G>C",
          "hgvs_p": "p.Arg495Arg",
          "transcript": "NM_001242581.2",
          "protein_id": "NP_001229510.1",
          "transcript_support_level": null,
          "aa_start": 495,
          "aa_end": null,
          "aa_length": 944,
          "cds_start": 1485,
          "cds_end": null,
          "cds_length": 2835,
          "cdna_start": 1522,
          "cdna_end": null,
          "cdna_length": 4392,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RIN2",
          "gene_hgnc_id": 18750,
          "hgvs_c": "c.1338G>C",
          "hgvs_p": "p.Arg446Arg",
          "transcript": "ENST00000648440.1",
          "protein_id": "ENSP00000498085.1",
          "transcript_support_level": null,
          "aa_start": 446,
          "aa_end": null,
          "aa_length": 895,
          "cds_start": 1338,
          "cds_end": null,
          "cds_length": 2688,
          "cdna_start": 1634,
          "cdna_end": null,
          "cdna_length": 4505,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RIN2",
          "gene_hgnc_id": 18750,
          "hgvs_c": "c.720G>C",
          "hgvs_p": "p.Arg240Arg",
          "transcript": "NM_001378238.1",
          "protein_id": "NP_001365167.1",
          "transcript_support_level": null,
          "aa_start": 240,
          "aa_end": null,
          "aa_length": 689,
          "cds_start": 720,
          "cds_end": null,
          "cds_length": 2070,
          "cdna_start": 1497,
          "cdna_end": null,
          "cdna_length": 4367,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RIN2",
          "gene_hgnc_id": 18750,
          "hgvs_c": "c.1485G>C",
          "hgvs_p": "p.Arg495Arg",
          "transcript": "XM_017027887.2",
          "protein_id": "XP_016883376.1",
          "transcript_support_level": null,
          "aa_start": 495,
          "aa_end": null,
          "aa_length": 944,
          "cds_start": 1485,
          "cds_end": null,
          "cds_length": 2835,
          "cdna_start": 2199,
          "cdna_end": null,
          "cdna_length": 5069,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RIN2",
          "gene_hgnc_id": 18750,
          "hgvs_c": "c.1485G>C",
          "hgvs_p": "p.Arg495Arg",
          "transcript": "XM_017027888.2",
          "protein_id": "XP_016883377.1",
          "transcript_support_level": null,
          "aa_start": 495,
          "aa_end": null,
          "aa_length": 944,
          "cds_start": 1485,
          "cds_end": null,
          "cds_length": 2835,
          "cdna_start": 2271,
          "cdna_end": null,
          "cdna_length": 5141,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RIN2",
          "gene_hgnc_id": 18750,
          "hgvs_c": "c.1485G>C",
          "hgvs_p": "p.Arg495Arg",
          "transcript": "XM_047440209.1",
          "protein_id": "XP_047296165.1",
          "transcript_support_level": null,
          "aa_start": 495,
          "aa_end": null,
          "aa_length": 944,
          "cds_start": 1485,
          "cds_end": null,
          "cds_length": 2835,
          "cdna_start": 1928,
          "cdna_end": null,
          "cdna_length": 4798,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RIN2",
          "gene_hgnc_id": 18750,
          "hgvs_c": "c.1485G>C",
          "hgvs_p": "p.Arg495Arg",
          "transcript": "XM_047440210.1",
          "protein_id": "XP_047296166.1",
          "transcript_support_level": null,
          "aa_start": 495,
          "aa_end": null,
          "aa_length": 944,
          "cds_start": 1485,
          "cds_end": null,
          "cds_length": 2835,
          "cdna_start": 2000,
          "cdna_end": null,
          "cdna_length": 4870,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RIN2",
          "gene_hgnc_id": 18750,
          "hgvs_c": "c.1485G>C",
          "hgvs_p": "p.Arg495Arg",
          "transcript": "XM_047440211.1",
          "protein_id": "XP_047296167.1",
          "transcript_support_level": null,
          "aa_start": 495,
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          "aa_length": 944,
          "cds_start": 1485,
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          "cds_length": 2835,
          "cdna_start": 2004,
          "cdna_end": null,
          "cdna_length": 4874,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "RIN2",
          "gene_hgnc_id": 18750,
          "hgvs_c": "c.1485G>C",
          "hgvs_p": "p.Arg495Arg",
          "transcript": "XM_047440212.1",
          "protein_id": "XP_047296168.1",
          "transcript_support_level": null,
          "aa_start": 495,
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          "aa_length": 944,
          "cds_start": 1485,
          "cds_end": null,
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          "cdna_start": 2347,
          "cdna_end": null,
          "cdna_length": 5217,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RIN2",
          "gene_hgnc_id": 18750,
          "hgvs_c": "c.1485G>C",
          "hgvs_p": "p.Arg495Arg",
          "transcript": "XM_047440213.1",
          "protein_id": "XP_047296169.1",
          "transcript_support_level": null,
          "aa_start": 495,
          "aa_end": null,
          "aa_length": 944,
          "cds_start": 1485,
          "cds_end": null,
          "cds_length": 2835,
          "cdna_start": 2275,
          "cdna_end": null,
          "cdna_length": 5145,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RIN2",
          "gene_hgnc_id": 18750,
          "hgvs_c": "c.1434G>C",
          "hgvs_p": "p.Arg478Arg",
          "transcript": "XM_011529255.3",
          "protein_id": "XP_011527557.3",
          "transcript_support_level": null,
          "aa_start": 478,
          "aa_end": null,
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          "cds_start": 1434,
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          "cds_length": 2784,
          "cdna_start": 1484,
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          "cdna_length": 4354,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RIN2",
          "gene_hgnc_id": 18750,
          "hgvs_c": "c.1428G>C",
          "hgvs_p": "p.Arg476Arg",
          "transcript": "XM_017027889.2",
          "protein_id": "XP_016883378.1",
          "transcript_support_level": null,
          "aa_start": 476,
          "aa_end": null,
          "aa_length": 925,
          "cds_start": 1428,
          "cds_end": null,
          "cds_length": 2778,
          "cdna_start": 1770,
          "cdna_end": null,
          "cdna_length": 4640,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RIN2",
          "gene_hgnc_id": 18750,
          "hgvs_c": "c.1338G>C",
          "hgvs_p": "p.Arg446Arg",
          "transcript": "XM_006723577.2",
          "protein_id": "XP_006723640.1",
          "transcript_support_level": null,
          "aa_start": 446,
          "aa_end": null,
          "aa_length": 895,
          "cds_start": 1338,
          "cds_end": null,
          "cds_length": 2688,
          "cdna_start": 1447,
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          "cdna_length": 4317,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RIN2",
          "gene_hgnc_id": 18750,
          "hgvs_c": "c.1338G>C",
          "hgvs_p": "p.Arg446Arg",
          "transcript": "XM_017027890.2",
          "protein_id": "XP_016883379.1",
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          "aa_length": 895,
          "cds_start": 1338,
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          "cdna_start": 1616,
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          "cdna_length": 4486,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RIN2",
          "gene_hgnc_id": 18750,
          "hgvs_c": "c.1338G>C",
          "hgvs_p": "p.Arg446Arg",
          "transcript": "XM_047440214.1",
          "protein_id": "XP_047296170.1",
          "transcript_support_level": null,
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          "cdna_start": 1854,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RIN2",
          "gene_hgnc_id": 18750,
          "hgvs_c": "c.1338G>C",
          "hgvs_p": "p.Arg446Arg",
          "transcript": "XM_047440215.1",
          "protein_id": "XP_047296171.1",
          "transcript_support_level": null,
          "aa_start": 446,
          "aa_end": null,
          "aa_length": 895,
          "cds_start": 1338,
          "cds_end": null,
          "cds_length": 2688,
          "cdna_start": 1646,
          "cdna_end": null,
          "cdna_length": 4516,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RIN2",
          "gene_hgnc_id": 18750,
          "hgvs_c": "c.1203G>C",
          "hgvs_p": "p.Arg401Arg",
          "transcript": "XM_047440216.1",
          "protein_id": "XP_047296172.1",
          "transcript_support_level": null,
          "aa_start": 401,
          "aa_end": null,
          "aa_length": 850,
          "cds_start": 1203,
          "cds_end": null,
          "cds_length": 2553,
          "cdna_start": 1439,
          "cdna_end": null,
          "cdna_length": 4309,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RIN2",
          "gene_hgnc_id": 18750,
          "hgvs_c": "c.1179G>C",
          "hgvs_p": "p.Arg393Arg",
          "transcript": "XM_011529259.3",
          "protein_id": "XP_011527561.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 842,
          "cds_start": 1179,
          "cds_end": null,
          "cds_length": 2529,
          "cdna_start": 1432,
          "cdna_end": null,
          "cdna_length": 4302,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RIN2",
          "gene_hgnc_id": 18750,
          "hgvs_c": "c.1179G>C",
          "hgvs_p": "p.Arg393Arg",
          "transcript": "XM_017027892.2",
          "protein_id": "XP_016883381.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 842,
          "cds_start": 1179,
          "cds_end": null,
          "cds_length": 2529,
          "cdna_start": 1443,
          "cdna_end": null,
          "cdna_length": 4313,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RIN2",
          "gene_hgnc_id": 18750,
          "hgvs_c": "c.1434G>C",
          "hgvs_p": "p.Arg478Arg",
          "transcript": "XM_017027893.2",
          "protein_id": "XP_016883382.2",
          "transcript_support_level": null,
          "aa_start": 478,
          "aa_end": null,
          "aa_length": 657,
          "cds_start": 1434,
          "cds_end": null,
          "cds_length": 1974,
          "cdna_start": 1484,
          "cdna_end": null,
          "cdna_length": 6170,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "RIN2",
      "gene_hgnc_id": 18750,
      "dbsnp": "rs367993633",
      "frequency_reference_population": 0.002405425,
      "hom_count_reference_population": 15,
      "allele_count_reference_population": 3882,
      "gnomad_exomes_af": 0.00241196,
      "gnomad_genomes_af": 0.0023427,
      "gnomad_exomes_ac": 3525,
      "gnomad_genomes_ac": 357,
      "gnomad_exomes_homalt": 14,
      "gnomad_genomes_homalt": 1,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.6200000047683716,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.62,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.092,
      "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,BS1,BS2",
      "acmg_by_gene": [
        {
          "score": -21,
          "benign_score": 21,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BP7",
            "BS1",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000255006.12",
          "gene_symbol": "RIN2",
          "hgnc_id": 18750,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1338G>C",
          "hgvs_p": "p.Arg446Arg"
        }
      ],
      "clinvar_disease": "RIN2-related disorder,not provided,not specified",
      "clinvar_classification": "Benign/Likely benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "LB:3 B:1",
      "phenotype_combined": "not specified|not provided|RIN2-related disorder",
      "pathogenicity_classification_combined": "Benign/Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}