← 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: 2-219421475-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219421475&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 219421475,
      "ref": "G",
      "alt": "T",
      "effect": "stop_gained",
      "transcript": "NM_001927.4",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1159G>T",
          "hgvs_p": "p.Glu387*",
          "transcript": "NM_001927.4",
          "protein_id": "NP_001918.3",
          "transcript_support_level": null,
          "aa_start": 387,
          "aa_end": null,
          "aa_length": 470,
          "cds_start": 1159,
          "cds_end": null,
          "cds_length": 1413,
          "cdna_start": 1245,
          "cdna_end": null,
          "cdna_length": 2243,
          "mane_select": "ENST00000373960.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001927.4"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1159G>T",
          "hgvs_p": "p.Glu387*",
          "transcript": "ENST00000373960.4",
          "protein_id": "ENSP00000363071.3",
          "transcript_support_level": 1,
          "aa_start": 387,
          "aa_end": null,
          "aa_length": 470,
          "cds_start": 1159,
          "cds_end": null,
          "cds_length": 1413,
          "cdna_start": 1245,
          "cdna_end": null,
          "cdna_length": 2243,
          "mane_select": "NM_001927.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000373960.4"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1159G>T",
          "hgvs_p": "p.Glu387*",
          "transcript": "ENST00000942906.1",
          "protein_id": "ENSP00000612965.1",
          "transcript_support_level": null,
          "aa_start": 387,
          "aa_end": null,
          "aa_length": 511,
          "cds_start": 1159,
          "cds_end": null,
          "cds_length": 1536,
          "cdna_start": 1194,
          "cdna_end": null,
          "cdna_length": 2313,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942906.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1159G>T",
          "hgvs_p": "p.Glu387*",
          "transcript": "ENST00000942898.1",
          "protein_id": "ENSP00000612957.1",
          "transcript_support_level": null,
          "aa_start": 387,
          "aa_end": null,
          "aa_length": 508,
          "cds_start": 1159,
          "cds_end": null,
          "cds_length": 1527,
          "cdna_start": 1245,
          "cdna_end": null,
          "cdna_length": 2359,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942898.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1159G>T",
          "hgvs_p": "p.Glu387*",
          "transcript": "ENST00000869000.1",
          "protein_id": "ENSP00000539059.1",
          "transcript_support_level": null,
          "aa_start": 387,
          "aa_end": null,
          "aa_length": 506,
          "cds_start": 1159,
          "cds_end": null,
          "cds_length": 1521,
          "cdna_start": 1245,
          "cdna_end": null,
          "cdna_length": 2349,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000869000.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1159G>T",
          "hgvs_p": "p.Glu387*",
          "transcript": "ENST00000868999.1",
          "protein_id": "ENSP00000539058.1",
          "transcript_support_level": null,
          "aa_start": 387,
          "aa_end": null,
          "aa_length": 494,
          "cds_start": 1159,
          "cds_end": null,
          "cds_length": 1485,
          "cdna_start": 1245,
          "cdna_end": null,
          "cdna_length": 2315,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868999.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1159G>T",
          "hgvs_p": "p.Glu387*",
          "transcript": "ENST00000942903.1",
          "protein_id": "ENSP00000612962.1",
          "transcript_support_level": null,
          "aa_start": 387,
          "aa_end": null,
          "aa_length": 490,
          "cds_start": 1159,
          "cds_end": null,
          "cds_length": 1473,
          "cdna_start": 1245,
          "cdna_end": null,
          "cdna_length": 2301,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942903.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1159G>T",
          "hgvs_p": "p.Glu387*",
          "transcript": "ENST00000868989.1",
          "protein_id": "ENSP00000539048.1",
          "transcript_support_level": null,
          "aa_start": 387,
          "aa_end": null,
          "aa_length": 486,
          "cds_start": 1159,
          "cds_end": null,
          "cds_length": 1461,
          "cdna_start": 2148,
          "cdna_end": null,
          "cdna_length": 3194,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868989.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1159G>T",
          "hgvs_p": "p.Glu387*",
          "transcript": "ENST00000868993.1",
          "protein_id": "ENSP00000539052.1",
          "transcript_support_level": null,
          "aa_start": 387,
          "aa_end": null,
          "aa_length": 478,
          "cds_start": 1159,
          "cds_end": null,
          "cds_length": 1437,
          "cdna_start": 1245,
          "cdna_end": null,
          "cdna_length": 2272,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868993.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1159G>T",
          "hgvs_p": "p.Glu387*",
          "transcript": "ENST00000868996.1",
          "protein_id": "ENSP00000539055.1",
          "transcript_support_level": null,
          "aa_start": 387,
          "aa_end": null,
          "aa_length": 477,
          "cds_start": 1159,
          "cds_end": null,
          "cds_length": 1434,
          "cdna_start": 1245,
          "cdna_end": null,
          "cdna_length": 2266,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868996.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1177G>T",
          "hgvs_p": "p.Glu393*",
          "transcript": "ENST00000868997.1",
          "protein_id": "ENSP00000539056.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 476,
          "cds_start": 1177,
          "cds_end": null,
          "cds_length": 1431,
          "cdna_start": 1263,
          "cdna_end": null,
          "cdna_length": 2261,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868997.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1156G>T",
          "hgvs_p": "p.Glu386*",
          "transcript": "NM_001382708.1",
          "protein_id": "NP_001369637.1",
          "transcript_support_level": null,
          "aa_start": 386,
          "aa_end": null,
          "aa_length": 469,
          "cds_start": 1156,
          "cds_end": null,
          "cds_length": 1410,
          "cdna_start": 1242,
          "cdna_end": null,
          "cdna_length": 2240,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001382708.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1156G>T",
          "hgvs_p": "p.Glu386*",
          "transcript": "ENST00000868992.1",
          "protein_id": "ENSP00000539051.1",
          "transcript_support_level": null,
          "aa_start": 386,
          "aa_end": null,
          "aa_length": 469,
          "cds_start": 1156,
          "cds_end": null,
          "cds_length": 1410,
          "cdna_start": 1242,
          "cdna_end": null,
          "cdna_length": 2245,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868992.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1147G>T",
          "hgvs_p": "p.Glu383*",
          "transcript": "ENST00000942892.1",
          "protein_id": "ENSP00000612951.1",
          "transcript_support_level": null,
          "aa_start": 383,
          "aa_end": null,
          "aa_length": 466,
          "cds_start": 1147,
          "cds_end": null,
          "cds_length": 1401,
          "cdna_start": 1235,
          "cdna_end": null,
          "cdna_length": 2237,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942892.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1159G>T",
          "hgvs_p": "p.Glu387*",
          "transcript": "ENST00000942901.1",
          "protein_id": "ENSP00000612960.1",
          "transcript_support_level": null,
          "aa_start": 387,
          "aa_end": null,
          "aa_length": 466,
          "cds_start": 1159,
          "cds_end": null,
          "cds_length": 1401,
          "cdna_start": 1245,
          "cdna_end": null,
          "cdna_length": 2231,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942901.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1159G>T",
          "hgvs_p": "p.Glu387*",
          "transcript": "NM_001382712.1",
          "protein_id": "NP_001369641.1",
          "transcript_support_level": null,
          "aa_start": 387,
          "aa_end": null,
          "aa_length": 465,
          "cds_start": 1159,
          "cds_end": null,
          "cds_length": 1398,
          "cdna_start": 1245,
          "cdna_end": null,
          "cdna_length": 1639,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001382712.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1141G>T",
          "hgvs_p": "p.Glu381*",
          "transcript": "ENST00000868990.1",
          "protein_id": "ENSP00000539049.1",
          "transcript_support_level": null,
          "aa_start": 381,
          "aa_end": null,
          "aa_length": 464,
          "cds_start": 1141,
          "cds_end": null,
          "cds_length": 1395,
          "cdna_start": 1227,
          "cdna_end": null,
          "cdna_length": 2230,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868990.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1141G>T",
          "hgvs_p": "p.Glu381*",
          "transcript": "ENST00000942893.1",
          "protein_id": "ENSP00000612952.1",
          "transcript_support_level": null,
          "aa_start": 381,
          "aa_end": null,
          "aa_length": 464,
          "cds_start": 1141,
          "cds_end": null,
          "cds_length": 1395,
          "cdna_start": 1227,
          "cdna_end": null,
          "cdna_length": 2229,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942893.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1138G>T",
          "hgvs_p": "p.Glu380*",
          "transcript": "NM_001382711.1",
          "protein_id": "NP_001369640.1",
          "transcript_support_level": null,
          "aa_start": 380,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 1138,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": 1224,
          "cdna_end": null,
          "cdna_length": 2222,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001382711.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1138G>T",
          "hgvs_p": "p.Glu380*",
          "transcript": "ENST00000868998.1",
          "protein_id": "ENSP00000539057.1",
          "transcript_support_level": null,
          "aa_start": 380,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 1138,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": 1224,
          "cdna_end": null,
          "cdna_length": 2222,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868998.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1159G>T",
          "hgvs_p": "p.Glu387*",
          "transcript": "ENST00000942891.1",
          "protein_id": "ENSP00000612950.1",
          "transcript_support_level": null,
          "aa_start": 387,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 1159,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": 1280,
          "cdna_end": null,
          "cdna_length": 2260,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942891.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1159G>T",
          "hgvs_p": "p.Glu387*",
          "transcript": "ENST00000942894.1",
          "protein_id": "ENSP00000612953.1",
          "transcript_support_level": null,
          "aa_start": 387,
          "aa_end": null,
          "aa_length": 462,
          "cds_start": 1159,
          "cds_end": null,
          "cds_length": 1389,
          "cdna_start": 1245,
          "cdna_end": null,
          "cdna_length": 2222,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942894.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1108G>T",
          "hgvs_p": "p.Glu370*",
          "transcript": "ENST00000942905.1",
          "protein_id": "ENSP00000612964.1",
          "transcript_support_level": null,
          "aa_start": 370,
          "aa_end": null,
          "aa_length": 453,
          "cds_start": 1108,
          "cds_end": null,
          "cds_length": 1362,
          "cdna_start": 1188,
          "cdna_end": null,
          "cdna_length": 2185,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942905.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1159G>T",
          "hgvs_p": "p.Glu387*",
          "transcript": "ENST00000869001.1",
          "protein_id": "ENSP00000539060.1",
          "transcript_support_level": null,
          "aa_start": 387,
          "aa_end": null,
          "aa_length": 452,
          "cds_start": 1159,
          "cds_end": null,
          "cds_length": 1359,
          "cdna_start": 1242,
          "cdna_end": null,
          "cdna_length": 2186,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000869001.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1090G>T",
          "hgvs_p": "p.Glu364*",
          "transcript": "NM_001382710.1",
          "protein_id": "NP_001369639.1",
          "transcript_support_level": null,
          "aa_start": 364,
          "aa_end": null,
          "aa_length": 447,
          "cds_start": 1090,
          "cds_end": null,
          "cds_length": 1344,
          "cdna_start": 1176,
          "cdna_end": null,
          "cdna_length": 2174,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001382710.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1078G>T",
          "hgvs_p": "p.Glu360*",
          "transcript": "ENST00000942904.1",
          "protein_id": "ENSP00000612963.1",
          "transcript_support_level": null,
          "aa_start": 360,
          "aa_end": null,
          "aa_length": 443,
          "cds_start": 1078,
          "cds_end": null,
          "cds_length": 1332,
          "cdna_start": 1164,
          "cdna_end": null,
          "cdna_length": 2160,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942904.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1069G>T",
          "hgvs_p": "p.Glu357*",
          "transcript": "ENST00000942900.1",
          "protein_id": "ENSP00000612959.1",
          "transcript_support_level": null,
          "aa_start": 357,
          "aa_end": null,
          "aa_length": 440,
          "cds_start": 1069,
          "cds_end": null,
          "cds_length": 1323,
          "cdna_start": 1155,
          "cdna_end": null,
          "cdna_length": 2153,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942900.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1063G>T",
          "hgvs_p": "p.Glu355*",
          "transcript": "ENST00000868991.1",
          "protein_id": "ENSP00000539050.1",
          "transcript_support_level": null,
          "aa_start": 355,
          "aa_end": null,
          "aa_length": 438,
          "cds_start": 1063,
          "cds_end": null,
          "cds_length": 1317,
          "cdna_start": 1149,
          "cdna_end": null,
          "cdna_length": 2152,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868991.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1033G>T",
          "hgvs_p": "p.Glu345*",
          "transcript": "ENST00000942897.1",
          "protein_id": "ENSP00000612956.1",
          "transcript_support_level": null,
          "aa_start": 345,
          "aa_end": null,
          "aa_length": 428,
          "cds_start": 1033,
          "cds_end": null,
          "cds_length": 1287,
          "cdna_start": 1119,
          "cdna_end": null,
          "cdna_length": 2120,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942897.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1015G>T",
          "hgvs_p": "p.Glu339*",
          "transcript": "ENST00000868995.1",
          "protein_id": "ENSP00000539054.1",
          "transcript_support_level": null,
          "aa_start": 339,
          "aa_end": null,
          "aa_length": 422,
          "cds_start": 1015,
          "cds_end": null,
          "cds_length": 1269,
          "cdna_start": 1101,
          "cdna_end": null,
          "cdna_length": 2101,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868995.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.949G>T",
          "hgvs_p": "p.Glu317*",
          "transcript": "ENST00000942899.1",
          "protein_id": "ENSP00000612958.1",
          "transcript_support_level": null,
          "aa_start": 317,
          "aa_end": null,
          "aa_length": 400,
          "cds_start": 949,
          "cds_end": null,
          "cds_length": 1203,
          "cdna_start": 1033,
          "cdna_end": null,
          "cdna_length": 2034,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942899.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.937G>T",
          "hgvs_p": "p.Glu313*",
          "transcript": "ENST00000868994.1",
          "protein_id": "ENSP00000539053.1",
          "transcript_support_level": null,
          "aa_start": 313,
          "aa_end": null,
          "aa_length": 396,
          "cds_start": 937,
          "cds_end": null,
          "cds_length": 1191,
          "cdna_start": 1023,
          "cdna_end": null,
          "cdna_length": 2026,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868994.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.889G>T",
          "hgvs_p": "p.Glu297*",
          "transcript": "NM_001382713.1",
          "protein_id": "NP_001369642.1",
          "transcript_support_level": null,
          "aa_start": 297,
          "aa_end": null,
          "aa_length": 380,
          "cds_start": 889,
          "cds_end": null,
          "cds_length": 1143,
          "cdna_start": 975,
          "cdna_end": null,
          "cdna_length": 1973,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001382713.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.853G>T",
          "hgvs_p": "p.Glu285*",
          "transcript": "ENST00000942896.1",
          "protein_id": "ENSP00000612955.1",
          "transcript_support_level": null,
          "aa_start": 285,
          "aa_end": null,
          "aa_length": 368,
          "cds_start": 853,
          "cds_end": null,
          "cds_length": 1107,
          "cdna_start": 939,
          "cdna_end": null,
          "cdna_length": 1940,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942896.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.781G>T",
          "hgvs_p": "p.Glu261*",
          "transcript": "ENST00000942895.1",
          "protein_id": "ENSP00000612954.1",
          "transcript_support_level": null,
          "aa_start": 261,
          "aa_end": null,
          "aa_length": 344,
          "cds_start": 781,
          "cds_end": null,
          "cds_length": 1035,
          "cdna_start": 867,
          "cdna_end": null,
          "cdna_length": 1868,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942895.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.778G>T",
          "hgvs_p": "p.Glu260*",
          "transcript": "ENST00000869002.1",
          "protein_id": "ENSP00000539061.1",
          "transcript_support_level": null,
          "aa_start": 260,
          "aa_end": null,
          "aa_length": 343,
          "cds_start": 778,
          "cds_end": null,
          "cds_length": 1032,
          "cdna_start": 859,
          "cdna_end": null,
          "cdna_length": 1857,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000869002.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.220G>T",
          "hgvs_p": "p.Glu74*",
          "transcript": "ENST00000942902.1",
          "protein_id": "ENSP00000612961.1",
          "transcript_support_level": null,
          "aa_start": 74,
          "aa_end": null,
          "aa_length": 157,
          "cds_start": 220,
          "cds_end": null,
          "cds_length": 474,
          "cdna_start": 306,
          "cdna_end": null,
          "cdna_length": 1303,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942902.1"
        },
        {
          "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": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.736-9G>T",
          "hgvs_p": null,
          "transcript": "NM_001382709.1",
          "protein_id": "NP_001369638.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 326,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 981,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1811,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001382709.1"
        },
        {
          "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": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "n.633G>T",
          "hgvs_p": null,
          "transcript": "ENST00000477226.6",
          "protein_id": null,
          "transcript_support_level": 4,
          "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": 1631,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000477226.6"
        },
        {
          "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": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "n.554G>T",
          "hgvs_p": null,
          "transcript": "ENST00000492726.1",
          "protein_id": null,
          "transcript_support_level": 4,
          "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": 706,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000492726.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "n.547G>T",
          "hgvs_p": null,
          "transcript": "ENST00000683013.1",
          "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": 1546,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000683013.1"
        }
      ],
      "gene_symbol": "DES",
      "gene_hgnc_id": 2770,
      "dbsnp": "rs865961434",
      "frequency_reference_population": 0.000001368092,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 2,
      "gnomad_exomes_af": 0.00000136809,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 2,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.6600000262260437,
      "computational_prediction_selected": "Pathogenic",
      "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": 0.66,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 9.864,
      "phylop100way_prediction": "Pathogenic",
      "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": 10,
      "acmg_classification": "Pathogenic",
      "acmg_criteria": "PVS1,PM2",
      "acmg_by_gene": [
        {
          "score": 10,
          "benign_score": 0,
          "pathogenic_score": 10,
          "criteria": [
            "PVS1",
            "PM2"
          ],
          "verdict": "Pathogenic",
          "transcript": "NM_001927.4",
          "gene_symbol": "DES",
          "hgnc_id": 2770,
          "effects": [
            "stop_gained"
          ],
          "inheritance_mode": "SD,AR,AD",
          "hgvs_c": "c.1159G>T",
          "hgvs_p": "p.Glu387*"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "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.