← 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: 10-95038992-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=95038992&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 95038992,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_000770.3",
      "consequences": [
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "c.1196A>G",
          "hgvs_p": "p.Lys399Arg",
          "transcript": "NM_000770.3",
          "protein_id": "NP_000761.3",
          "transcript_support_level": null,
          "aa_start": 399,
          "aa_end": null,
          "aa_length": 490,
          "cds_start": 1196,
          "cds_end": null,
          "cds_length": 1473,
          "cdna_start": 1291,
          "cdna_end": null,
          "cdna_length": 1924,
          "mane_select": "ENST00000371270.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000770.3"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "c.1196A>G",
          "hgvs_p": "p.Lys399Arg",
          "transcript": "ENST00000371270.6",
          "protein_id": "ENSP00000360317.3",
          "transcript_support_level": 1,
          "aa_start": 399,
          "aa_end": null,
          "aa_length": 490,
          "cds_start": 1196,
          "cds_end": null,
          "cds_length": 1473,
          "cdna_start": 1291,
          "cdna_end": null,
          "cdna_length": 1924,
          "mane_select": "NM_000770.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000371270.6"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "c.1277A>G",
          "hgvs_p": "p.Lys426Arg",
          "transcript": "ENST00000854622.1",
          "protein_id": "ENSP00000524681.1",
          "transcript_support_level": null,
          "aa_start": 426,
          "aa_end": null,
          "aa_length": 517,
          "cds_start": 1277,
          "cds_end": null,
          "cds_length": 1554,
          "cdna_start": 1372,
          "cdna_end": null,
          "cdna_length": 2006,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854622.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "c.1232A>G",
          "hgvs_p": "p.Lys411Arg",
          "transcript": "ENST00000854631.1",
          "protein_id": "ENSP00000524690.1",
          "transcript_support_level": null,
          "aa_start": 411,
          "aa_end": null,
          "aa_length": 502,
          "cds_start": 1232,
          "cds_end": null,
          "cds_length": 1509,
          "cdna_start": 1327,
          "cdna_end": null,
          "cdna_length": 1954,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854631.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "c.1217A>G",
          "hgvs_p": "p.Lys406Arg",
          "transcript": "ENST00000854618.1",
          "protein_id": "ENSP00000524677.1",
          "transcript_support_level": null,
          "aa_start": 406,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 1217,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": 1312,
          "cdna_end": null,
          "cdna_length": 2356,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854618.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "c.1190A>G",
          "hgvs_p": "p.Lys397Arg",
          "transcript": "ENST00000854621.1",
          "protein_id": "ENSP00000524680.1",
          "transcript_support_level": null,
          "aa_start": 397,
          "aa_end": null,
          "aa_length": 488,
          "cds_start": 1190,
          "cds_end": null,
          "cds_length": 1467,
          "cdna_start": 1286,
          "cdna_end": null,
          "cdna_length": 1920,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854621.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "c.1190A>G",
          "hgvs_p": "p.Lys397Arg",
          "transcript": "ENST00000854623.1",
          "protein_id": "ENSP00000524682.1",
          "transcript_support_level": null,
          "aa_start": 397,
          "aa_end": null,
          "aa_length": 488,
          "cds_start": 1190,
          "cds_end": null,
          "cds_length": 1467,
          "cdna_start": 1285,
          "cdna_end": null,
          "cdna_length": 1917,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854623.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "c.1196A>G",
          "hgvs_p": "p.Lys399Arg",
          "transcript": "ENST00000854627.1",
          "protein_id": "ENSP00000524686.1",
          "transcript_support_level": null,
          "aa_start": 399,
          "aa_end": null,
          "aa_length": 484,
          "cds_start": 1196,
          "cds_end": null,
          "cds_length": 1455,
          "cdna_start": 1291,
          "cdna_end": null,
          "cdna_length": 1904,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854627.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "c.1196A>G",
          "hgvs_p": "p.Lys399Arg",
          "transcript": "ENST00000854634.1",
          "protein_id": "ENSP00000524693.1",
          "transcript_support_level": null,
          "aa_start": 399,
          "aa_end": null,
          "aa_length": 481,
          "cds_start": 1196,
          "cds_end": null,
          "cds_length": 1446,
          "cdna_start": 1261,
          "cdna_end": null,
          "cdna_length": 1862,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854634.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "c.1058A>G",
          "hgvs_p": "p.Lys353Arg",
          "transcript": "ENST00000854626.1",
          "protein_id": "ENSP00000524685.1",
          "transcript_support_level": null,
          "aa_start": 353,
          "aa_end": null,
          "aa_length": 444,
          "cds_start": 1058,
          "cds_end": null,
          "cds_length": 1335,
          "cdna_start": 1153,
          "cdna_end": null,
          "cdna_length": 1785,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854626.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "c.1055A>G",
          "hgvs_p": "p.Lys352Arg",
          "transcript": "ENST00000854619.1",
          "protein_id": "ENSP00000524678.1",
          "transcript_support_level": null,
          "aa_start": 352,
          "aa_end": null,
          "aa_length": 443,
          "cds_start": 1055,
          "cds_end": null,
          "cds_length": 1332,
          "cdna_start": 1151,
          "cdna_end": null,
          "cdna_length": 1786,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854619.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "c.1046A>G",
          "hgvs_p": "p.Lys349Arg",
          "transcript": "ENST00000854617.1",
          "protein_id": "ENSP00000524676.1",
          "transcript_support_level": null,
          "aa_start": 349,
          "aa_end": null,
          "aa_length": 440,
          "cds_start": 1046,
          "cds_end": null,
          "cds_length": 1323,
          "cdna_start": 1141,
          "cdna_end": null,
          "cdna_length": 2191,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854617.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "c.995A>G",
          "hgvs_p": "p.Lys332Arg",
          "transcript": "ENST00000854629.1",
          "protein_id": "ENSP00000524688.1",
          "transcript_support_level": null,
          "aa_start": 332,
          "aa_end": null,
          "aa_length": 423,
          "cds_start": 995,
          "cds_end": null,
          "cds_length": 1272,
          "cdna_start": 1090,
          "cdna_end": null,
          "cdna_length": 1718,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854629.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "c.986A>G",
          "hgvs_p": "p.Lys329Arg",
          "transcript": "NM_001198853.1",
          "protein_id": "NP_001185782.1",
          "transcript_support_level": null,
          "aa_start": 329,
          "aa_end": null,
          "aa_length": 420,
          "cds_start": 986,
          "cds_end": null,
          "cds_length": 1263,
          "cdna_start": 1329,
          "cdna_end": null,
          "cdna_length": 1962,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001198853.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "c.986A>G",
          "hgvs_p": "p.Lys329Arg",
          "transcript": "NM_001198855.1",
          "protein_id": "NP_001185784.1",
          "transcript_support_level": null,
          "aa_start": 329,
          "aa_end": null,
          "aa_length": 420,
          "cds_start": 986,
          "cds_end": null,
          "cds_length": 1263,
          "cdna_start": 1391,
          "cdna_end": null,
          "cdna_length": 2024,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001198855.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "c.986A>G",
          "hgvs_p": "p.Lys329Arg",
          "transcript": "ENST00000623108.3",
          "protein_id": "ENSP00000485110.1",
          "transcript_support_level": 2,
          "aa_start": 329,
          "aa_end": null,
          "aa_length": 420,
          "cds_start": 986,
          "cds_end": null,
          "cds_length": 1263,
          "cdna_start": 1329,
          "cdna_end": null,
          "cdna_length": 1962,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000623108.3"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "c.890A>G",
          "hgvs_p": "p.Lys297Arg",
          "transcript": "NM_001198854.1",
          "protein_id": "NP_001185783.1",
          "transcript_support_level": null,
          "aa_start": 297,
          "aa_end": null,
          "aa_length": 388,
          "cds_start": 890,
          "cds_end": null,
          "cds_length": 1167,
          "cdna_start": 1166,
          "cdna_end": null,
          "cdna_length": 1799,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001198854.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "c.890A>G",
          "hgvs_p": "p.Lys297Arg",
          "transcript": "ENST00000535898.5",
          "protein_id": "ENSP00000445062.1",
          "transcript_support_level": 2,
          "aa_start": 297,
          "aa_end": null,
          "aa_length": 388,
          "cds_start": 890,
          "cds_end": null,
          "cds_length": 1167,
          "cdna_start": 1166,
          "cdna_end": null,
          "cdna_length": 1799,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000535898.5"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "c.866A>G",
          "hgvs_p": "p.Lys289Arg",
          "transcript": "ENST00000854625.1",
          "protein_id": "ENSP00000524684.1",
          "transcript_support_level": null,
          "aa_start": 289,
          "aa_end": null,
          "aa_length": 380,
          "cds_start": 866,
          "cds_end": null,
          "cds_length": 1143,
          "cdna_start": 961,
          "cdna_end": null,
          "cdna_length": 1593,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854625.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "c.812A>G",
          "hgvs_p": "p.Lys271Arg",
          "transcript": "ENST00000854633.1",
          "protein_id": "ENSP00000524692.1",
          "transcript_support_level": null,
          "aa_start": 271,
          "aa_end": null,
          "aa_length": 362,
          "cds_start": 812,
          "cds_end": null,
          "cds_length": 1089,
          "cdna_start": 907,
          "cdna_end": null,
          "cdna_length": 1527,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854633.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "c.722A>G",
          "hgvs_p": "p.Lys241Arg",
          "transcript": "ENST00000854624.1",
          "protein_id": "ENSP00000524683.1",
          "transcript_support_level": null,
          "aa_start": 241,
          "aa_end": null,
          "aa_length": 332,
          "cds_start": 722,
          "cds_end": null,
          "cds_length": 999,
          "cdna_start": 817,
          "cdna_end": null,
          "cdna_length": 1449,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854624.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "c.566A>G",
          "hgvs_p": "p.Lys189Arg",
          "transcript": "ENST00000854630.1",
          "protein_id": "ENSP00000524689.1",
          "transcript_support_level": null,
          "aa_start": 189,
          "aa_end": null,
          "aa_length": 280,
          "cds_start": 566,
          "cds_end": null,
          "cds_length": 843,
          "cdna_start": 661,
          "cdna_end": null,
          "cdna_length": 1289,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854630.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "c.545A>G",
          "hgvs_p": "p.Lys182Arg",
          "transcript": "ENST00000854616.1",
          "protein_id": "ENSP00000524675.1",
          "transcript_support_level": null,
          "aa_start": 182,
          "aa_end": null,
          "aa_length": 273,
          "cds_start": 545,
          "cds_end": null,
          "cds_length": 822,
          "cdna_start": 640,
          "cdna_end": null,
          "cdna_length": 3686,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854616.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "c.215A>G",
          "hgvs_p": "p.Lys72Arg",
          "transcript": "ENST00000854620.1",
          "protein_id": "ENSP00000524679.1",
          "transcript_support_level": null,
          "aa_start": 72,
          "aa_end": null,
          "aa_length": 163,
          "cds_start": 215,
          "cds_end": null,
          "cds_length": 492,
          "cdna_start": 310,
          "cdna_end": null,
          "cdna_length": 946,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854620.1"
        },
        {
          "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": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "c.962-1683A>G",
          "hgvs_p": null,
          "transcript": "ENST00000854628.1",
          "protein_id": "ENSP00000524687.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 380,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1143,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1590,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854628.1"
        },
        {
          "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": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "c.332-1683A>G",
          "hgvs_p": null,
          "transcript": "ENST00000854632.1",
          "protein_id": "ENSP00000524691.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 170,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 513,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 957,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854632.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "n.1539A>G",
          "hgvs_p": null,
          "transcript": "ENST00000479946.2",
          "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": 1572,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000479946.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "n.*982A>G",
          "hgvs_p": null,
          "transcript": "ENST00000490994.6",
          "protein_id": "ENSP00000433314.1",
          "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": 1961,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000490994.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "n.*771A>G",
          "hgvs_p": null,
          "transcript": "ENST00000525991.5",
          "protein_id": "ENSP00000433842.1",
          "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": 1587,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000525991.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "n.1451A>G",
          "hgvs_p": null,
          "transcript": "ENST00000526814.5",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": 2078,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000526814.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "n.*53A>G",
          "hgvs_p": null,
          "transcript": "ENST00000527420.5",
          "protein_id": "ENSP00000433191.1",
          "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": 1868,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000527420.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "n.1490A>G",
          "hgvs_p": null,
          "transcript": "ENST00000527953.5",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": 2117,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000527953.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "n.384A>G",
          "hgvs_p": null,
          "transcript": "ENST00000531714.1",
          "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": 607,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000531714.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "n.1430A>G",
          "hgvs_p": null,
          "transcript": "ENST00000533320.5",
          "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": 2033,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000533320.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "n.*982A>G",
          "hgvs_p": null,
          "transcript": "ENST00000490994.6",
          "protein_id": "ENSP00000433314.1",
          "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": 1961,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000490994.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "n.*771A>G",
          "hgvs_p": null,
          "transcript": "ENST00000525991.5",
          "protein_id": "ENSP00000433842.1",
          "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": 1587,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000525991.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CYP2C8",
          "gene_hgnc_id": 2622,
          "hgvs_c": "n.*53A>G",
          "hgvs_p": null,
          "transcript": "ENST00000527420.5",
          "protein_id": "ENSP00000433191.1",
          "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": 1868,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000527420.5"
        }
      ],
      "gene_symbol": "CYP2C8",
      "gene_hgnc_id": 2622,
      "dbsnp": "rs10509681",
      "frequency_reference_population": 0.103249185,
      "hom_count_reference_population": 9719,
      "allele_count_reference_population": 166562,
      "gnomad_exomes_af": 0.105699,
      "gnomad_genomes_af": 0.0797513,
      "gnomad_exomes_ac": 154417,
      "gnomad_genomes_ac": 12145,
      "gnomad_exomes_homalt": 9109,
      "gnomad_genomes_homalt": 610,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.0021723508834838867,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.009999999776482582,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.054,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.0854,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.54,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.323,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.01,
      "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": -13,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6,BA1",
      "acmg_by_gene": [
        {
          "score": -13,
          "benign_score": 13,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_000770.3",
          "gene_symbol": "CYP2C8",
          "hgnc_id": 2622,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD,AR",
          "hgvs_c": "c.1196A>G",
          "hgvs_p": "p.Lys399Arg"
        }
      ],
      "clinvar_disease": " chronic obstructive, susceptibility to,CYP2C8-related disorder,Pulmonary disease",
      "clinvar_classification": " association,Benign",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "Pulmonary disease, chronic obstructive, susceptibility to|CYP2C8-related disorder",
      "pathogenicity_classification_combined": "Benign; association",
      "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.