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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: 2-219425696-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219425696&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 219425696,
      "ref": "A",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_001927.4",
      "consequences": [
        {
          "aa_ref": "H",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1322A>G",
          "hgvs_p": "p.His441Arg",
          "transcript": "NM_001927.4",
          "protein_id": "NP_001918.3",
          "transcript_support_level": null,
          "aa_start": 441,
          "aa_end": null,
          "aa_length": 470,
          "cds_start": 1322,
          "cds_end": null,
          "cds_length": 1413,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000373960.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001927.4"
        },
        {
          "aa_ref": "H",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1322A>G",
          "hgvs_p": "p.His441Arg",
          "transcript": "ENST00000373960.4",
          "protein_id": "ENSP00000363071.3",
          "transcript_support_level": 1,
          "aa_start": 441,
          "aa_end": null,
          "aa_length": 470,
          "cds_start": 1322,
          "cds_end": null,
          "cds_length": 1413,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001927.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000373960.4"
        },
        {
          "aa_ref": "H",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1445A>G",
          "hgvs_p": "p.His482Arg",
          "transcript": "ENST00000942906.1",
          "protein_id": "ENSP00000612965.1",
          "transcript_support_level": null,
          "aa_start": 482,
          "aa_end": null,
          "aa_length": 511,
          "cds_start": 1445,
          "cds_end": null,
          "cds_length": 1536,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942906.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1436A>G",
          "hgvs_p": "p.His479Arg",
          "transcript": "ENST00000942898.1",
          "protein_id": "ENSP00000612957.1",
          "transcript_support_level": null,
          "aa_start": 479,
          "aa_end": null,
          "aa_length": 508,
          "cds_start": 1436,
          "cds_end": null,
          "cds_length": 1527,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942898.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1430A>G",
          "hgvs_p": "p.His477Arg",
          "transcript": "ENST00000869000.1",
          "protein_id": "ENSP00000539059.1",
          "transcript_support_level": null,
          "aa_start": 477,
          "aa_end": null,
          "aa_length": 506,
          "cds_start": 1430,
          "cds_end": null,
          "cds_length": 1521,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000869000.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1394A>G",
          "hgvs_p": "p.His465Arg",
          "transcript": "ENST00000868999.1",
          "protein_id": "ENSP00000539058.1",
          "transcript_support_level": null,
          "aa_start": 465,
          "aa_end": null,
          "aa_length": 494,
          "cds_start": 1394,
          "cds_end": null,
          "cds_length": 1485,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868999.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1382A>G",
          "hgvs_p": "p.His461Arg",
          "transcript": "ENST00000942903.1",
          "protein_id": "ENSP00000612962.1",
          "transcript_support_level": null,
          "aa_start": 461,
          "aa_end": null,
          "aa_length": 490,
          "cds_start": 1382,
          "cds_end": null,
          "cds_length": 1473,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942903.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1370A>G",
          "hgvs_p": "p.His457Arg",
          "transcript": "ENST00000868989.1",
          "protein_id": "ENSP00000539048.1",
          "transcript_support_level": null,
          "aa_start": 457,
          "aa_end": null,
          "aa_length": 486,
          "cds_start": 1370,
          "cds_end": null,
          "cds_length": 1461,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868989.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1346A>G",
          "hgvs_p": "p.His449Arg",
          "transcript": "ENST00000868993.1",
          "protein_id": "ENSP00000539052.1",
          "transcript_support_level": null,
          "aa_start": 449,
          "aa_end": null,
          "aa_length": 478,
          "cds_start": 1346,
          "cds_end": null,
          "cds_length": 1437,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868993.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1343A>G",
          "hgvs_p": "p.His448Arg",
          "transcript": "ENST00000868996.1",
          "protein_id": "ENSP00000539055.1",
          "transcript_support_level": null,
          "aa_start": 448,
          "aa_end": null,
          "aa_length": 477,
          "cds_start": 1343,
          "cds_end": null,
          "cds_length": 1434,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000868996.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1340A>G",
          "hgvs_p": "p.His447Arg",
          "transcript": "ENST00000868997.1",
          "protein_id": "ENSP00000539056.1",
          "transcript_support_level": null,
          "aa_start": 447,
          "aa_end": null,
          "aa_length": 476,
          "cds_start": 1340,
          "cds_end": null,
          "cds_length": 1431,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868997.1"
        },
        {
          "aa_ref": "H",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1319A>G",
          "hgvs_p": "p.His440Arg",
          "transcript": "NM_001382708.1",
          "protein_id": "NP_001369637.1",
          "transcript_support_level": null,
          "aa_start": 440,
          "aa_end": null,
          "aa_length": 469,
          "cds_start": 1319,
          "cds_end": null,
          "cds_length": 1410,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001382708.1"
        },
        {
          "aa_ref": "H",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1319A>G",
          "hgvs_p": "p.His440Arg",
          "transcript": "ENST00000868992.1",
          "protein_id": "ENSP00000539051.1",
          "transcript_support_level": null,
          "aa_start": 440,
          "aa_end": null,
          "aa_length": 469,
          "cds_start": 1319,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000868992.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1310A>G",
          "hgvs_p": "p.His437Arg",
          "transcript": "ENST00000942892.1",
          "protein_id": "ENSP00000612951.1",
          "transcript_support_level": null,
          "aa_start": 437,
          "aa_end": null,
          "aa_length": 466,
          "cds_start": 1310,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "H",
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          "strand": true,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1322A>G",
          "hgvs_p": "p.His441Arg",
          "transcript": "ENST00000942901.1",
          "protein_id": "ENSP00000612960.1",
          "transcript_support_level": null,
          "aa_start": 441,
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          "cds_start": 1322,
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          "cds_length": 1401,
          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000942901.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1322A>G",
          "hgvs_p": "p.His441Arg",
          "transcript": "NM_001382712.1",
          "protein_id": "NP_001369641.1",
          "transcript_support_level": null,
          "aa_start": 441,
          "aa_end": null,
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          "cds_start": 1322,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "NM_001382712.1"
        },
        {
          "aa_ref": "H",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1304A>G",
          "hgvs_p": "p.His435Arg",
          "transcript": "ENST00000868990.1",
          "protein_id": "ENSP00000539049.1",
          "transcript_support_level": null,
          "aa_start": 435,
          "aa_end": null,
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          "cds_start": 1304,
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        {
          "aa_ref": "H",
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          ],
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          "intron_rank": null,
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          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1304A>G",
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          "transcript": "ENST00000942893.1",
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        },
        {
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          "protein_coding": true,
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          "intron_rank": null,
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          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1301A>G",
          "hgvs_p": "p.His434Arg",
          "transcript": "NM_001382711.1",
          "protein_id": "NP_001369640.1",
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          "cds_start": 1301,
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          "biotype": "protein_coding",
          "feature": "NM_001382711.1"
        },
        {
          "aa_ref": "H",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DES",
          "gene_hgnc_id": 2770,
          "hgvs_c": "c.1301A>G",
          "hgvs_p": "p.His434Arg",
          "transcript": "ENST00000868998.1",
          "protein_id": "ENSP00000539057.1",
          "transcript_support_level": null,
          "aa_start": 434,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 1301,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000868998.1"
        },
        {
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          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000234638",
          "gene_hgnc_id": null,
          "hgvs_c": "n.104+385T>C",
          "hgvs_p": null,
          "transcript": "ENST00000431827.1",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000431827.1"
        }
      ],
      "gene_symbol": "DES",
      "gene_hgnc_id": 2770,
      "dbsnp": "rs1064796937",
      "frequency_reference_population": 6.9304104e-7,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": 6.93041e-7,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 1,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.06693998724222183,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "CardioboostCm",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.691,
      "revel_prediction": "Pathogenic",
      "alphamissense_score": 0.2218,
      "alphamissense_prediction": "Benign",
      "bayesdelnoaf_score": 0.3,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 7.357,
      "phylop100way_prediction": "Uncertain_significance",
      "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": 5,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM1,PM2,PP2",
      "acmg_by_gene": [
        {
          "score": 5,
          "benign_score": 0,
          "pathogenic_score": 5,
          "criteria": [
            "PM1",
            "PM2",
            "PP2"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001927.4",
          "gene_symbol": "DES",
          "hgnc_id": 2770,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD,AR,SD",
          "hgvs_c": "c.1322A>G",
          "hgvs_p": "p.His441Arg"
        },
        {
          "score": 2,
          "benign_score": 0,
          "pathogenic_score": 2,
          "criteria": [
            "PM2"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000431827.1",
          "gene_symbol": "ENSG00000234638",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.104+385T>C",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}