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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: 9-128177654-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128177654&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 128177654,
      "ref": "G",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_001257975.2",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIZ1",
          "gene_hgnc_id": 16744,
          "hgvs_c": "c.1730C>A",
          "hgvs_p": "p.Ser577Tyr",
          "transcript": "NM_001131016.2",
          "protein_id": "NP_001124488.1",
          "transcript_support_level": null,
          "aa_start": 577,
          "aa_end": null,
          "aa_length": 898,
          "cds_start": 1730,
          "cds_end": null,
          "cds_length": 2697,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000372938.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001131016.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "Y",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIZ1",
          "gene_hgnc_id": 16744,
          "hgvs_c": "c.1730C>A",
          "hgvs_p": "p.Ser577Tyr",
          "transcript": "ENST00000372938.10",
          "protein_id": "ENSP00000362029.5",
          "transcript_support_level": 1,
          "aa_start": 577,
          "aa_end": null,
          "aa_length": 898,
          "cds_start": 1730,
          "cds_end": null,
          "cds_length": 2697,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001131016.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000372938.10"
        },
        {
          "aa_ref": "S",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIZ1",
          "gene_hgnc_id": 16744,
          "hgvs_c": "c.1496C>A",
          "hgvs_p": "p.Ser499Tyr",
          "transcript": "ENST00000415526.5",
          "protein_id": "ENSP00000398011.1",
          "transcript_support_level": 1,
          "aa_start": 499,
          "aa_end": null,
          "aa_length": 820,
          "cds_start": 1496,
          "cds_end": null,
          "cds_length": 2463,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000415526.5"
        },
        {
          "aa_ref": "S",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIZ1",
          "gene_hgnc_id": 16744,
          "hgvs_c": "c.1490C>A",
          "hgvs_p": "p.Ser497Tyr",
          "transcript": "ENST00000372954.5",
          "protein_id": "ENSP00000362045.1",
          "transcript_support_level": 1,
          "aa_start": 497,
          "aa_end": null,
          "aa_length": 818,
          "cds_start": 1490,
          "cds_end": null,
          "cds_length": 2457,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000372954.5"
        },
        {
          "aa_ref": "S",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIZ1",
          "gene_hgnc_id": 16744,
          "hgvs_c": "c.1820C>A",
          "hgvs_p": "p.Ser607Tyr",
          "transcript": "NM_001257975.2",
          "protein_id": "NP_001244904.1",
          "transcript_support_level": null,
          "aa_start": 607,
          "aa_end": null,
          "aa_length": 954,
          "cds_start": 1820,
          "cds_end": null,
          "cds_length": 2865,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001257975.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIZ1",
          "gene_hgnc_id": 16744,
          "hgvs_c": "c.1820C>A",
          "hgvs_p": "p.Ser607Tyr",
          "transcript": "ENST00000538431.5",
          "protein_id": "ENSP00000439244.2",
          "transcript_support_level": 2,
          "aa_start": 607,
          "aa_end": null,
          "aa_length": 954,
          "cds_start": 1820,
          "cds_end": null,
          "cds_length": 2865,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000538431.5"
        },
        {
          "aa_ref": "S",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIZ1",
          "gene_hgnc_id": 16744,
          "hgvs_c": "c.1730C>A",
          "hgvs_p": "p.Ser577Tyr",
          "transcript": "ENST00000866508.1",
          "protein_id": "ENSP00000536567.1",
          "transcript_support_level": null,
          "aa_start": 577,
          "aa_end": null,
          "aa_length": 954,
          "cds_start": 1730,
          "cds_end": null,
          "cds_length": 2865,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000866508.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIZ1",
          "gene_hgnc_id": 16744,
          "hgvs_c": "c.1748C>A",
          "hgvs_p": "p.Ser583Tyr",
          "transcript": "ENST00000866505.1",
          "protein_id": "ENSP00000536564.1",
          "transcript_support_level": null,
          "aa_start": 583,
          "aa_end": null,
          "aa_length": 904,
          "cds_start": 1748,
          "cds_end": null,
          "cds_length": 2715,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000866505.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIZ1",
          "gene_hgnc_id": 16744,
          "hgvs_c": "c.1730C>A",
          "hgvs_p": "p.Ser577Tyr",
          "transcript": "NM_012127.3",
          "protein_id": "NP_036259.2",
          "transcript_support_level": null,
          "aa_start": 577,
          "aa_end": null,
          "aa_length": 898,
          "cds_start": 1730,
          "cds_end": null,
          "cds_length": 2697,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_012127.3"
        },
        {
          "aa_ref": "S",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIZ1",
          "gene_hgnc_id": 16744,
          "hgvs_c": "c.1730C>A",
          "hgvs_p": "p.Ser577Tyr",
          "transcript": "ENST00000634901.1",
          "protein_id": "ENSP00000489425.1",
          "transcript_support_level": 5,
          "aa_start": 577,
          "aa_end": null,
          "aa_length": 898,
          "cds_start": 1730,
          "cds_end": null,
          "cds_length": 2697,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000634901.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIZ1",
          "gene_hgnc_id": 16744,
          "hgvs_c": "c.1730C>A",
          "hgvs_p": "p.Ser577Tyr",
          "transcript": "ENST00000866500.1",
          "protein_id": "ENSP00000536559.1",
          "transcript_support_level": null,
          "aa_start": 577,
          "aa_end": null,
          "aa_length": 898,
          "cds_start": 1730,
          "cds_end": null,
          "cds_length": 2697,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000866500.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIZ1",
          "gene_hgnc_id": 16744,
          "hgvs_c": "c.1730C>A",
          "hgvs_p": "p.Ser577Tyr",
          "transcript": "ENST00000866501.1",
          "protein_id": "ENSP00000536560.1",
          "transcript_support_level": null,
          "aa_start": 577,
          "aa_end": null,
          "aa_length": 898,
          "cds_start": 1730,
          "cds_end": null,
          "cds_length": 2697,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000866501.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIZ1",
          "gene_hgnc_id": 16744,
          "hgvs_c": "c.1730C>A",
          "hgvs_p": "p.Ser577Tyr",
          "transcript": "ENST00000866510.1",
          "protein_id": "ENSP00000536569.1",
          "transcript_support_level": null,
          "aa_start": 577,
          "aa_end": null,
          "aa_length": 898,
          "cds_start": 1730,
          "cds_end": null,
          "cds_length": 2697,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000866510.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIZ1",
          "gene_hgnc_id": 16744,
          "hgvs_c": "c.1730C>A",
          "hgvs_p": "p.Ser577Tyr",
          "transcript": "ENST00000866511.1",
          "protein_id": "ENSP00000536570.1",
          "transcript_support_level": null,
          "aa_start": 577,
          "aa_end": null,
          "aa_length": 898,
          "cds_start": 1730,
          "cds_end": null,
          "cds_length": 2697,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000866511.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIZ1",
          "gene_hgnc_id": 16744,
          "hgvs_c": "c.1730C>A",
          "hgvs_p": "p.Ser577Tyr",
          "transcript": "ENST00000866512.1",
          "protein_id": "ENSP00000536571.1",
          "transcript_support_level": null,
          "aa_start": 577,
          "aa_end": null,
          "aa_length": 898,
          "cds_start": 1730,
          "cds_end": null,
          "cds_length": 2697,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000866512.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIZ1",
          "gene_hgnc_id": 16744,
          "hgvs_c": "c.1730C>A",
          "hgvs_p": "p.Ser577Tyr",
          "transcript": "ENST00000866513.1",
          "protein_id": "ENSP00000536572.1",
          "transcript_support_level": null,
          "aa_start": 577,
          "aa_end": null,
          "aa_length": 898,
          "cds_start": 1730,
          "cds_end": null,
          "cds_length": 2697,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000866513.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIZ1",
          "gene_hgnc_id": 16744,
          "hgvs_c": "c.1730C>A",
          "hgvs_p": "p.Ser577Tyr",
          "transcript": "ENST00000965482.1",
          "protein_id": "ENSP00000635541.1",
          "transcript_support_level": null,
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          "cds_start": 1730,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000965482.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIZ1",
          "gene_hgnc_id": 16744,
          "hgvs_c": "c.1730C>A",
          "hgvs_p": "p.Ser577Tyr",
          "transcript": "ENST00000965485.1",
          "protein_id": "ENSP00000635544.1",
          "transcript_support_level": null,
          "aa_start": 577,
          "aa_end": null,
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          "cds_start": 1730,
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          "cds_length": 2697,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
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          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965485.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIZ1",
          "gene_hgnc_id": 16744,
          "hgvs_c": "c.1730C>A",
          "hgvs_p": "p.Ser577Tyr",
          "transcript": "ENST00000965486.1",
          "protein_id": "ENSP00000635545.1",
          "transcript_support_level": null,
          "aa_start": 577,
          "aa_end": null,
          "aa_length": 897,
          "cds_start": 1730,
          "cds_end": null,
          "cds_length": 2694,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965486.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CIZ1",
          "gene_hgnc_id": 16744,
          "hgvs_c": "c.1730C>A",
          "hgvs_p": "p.Ser577Tyr",
          "transcript": "ENST00000866506.1",
          "protein_id": "ENSP00000536565.1",
          "transcript_support_level": null,
          "aa_start": 577,
          "aa_end": null,
          "aa_length": 896,
          "cds_start": 1730,
          "cds_end": null,
          "cds_length": 2691,
          "cdna_start": null,
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        },
        {
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            "upstream_gene_variant"
          ],
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          "exon_count": 9,
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          "gene_symbol": "CIZ1",
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          "transcript": "ENST00000471839.5",
          "protein_id": "ENSP00000489129.1",
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000471839.5"
        }
      ],
      "gene_symbol": "CIZ1",
      "gene_hgnc_id": 16744,
      "dbsnp": "rs780188256",
      "frequency_reference_population": 6.9398754e-7,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": 6.93988e-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": 0.17620795965194702,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.106,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.1366,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.39,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 3.547,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4_Moderate",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001257975.2",
          "gene_symbol": "CIZ1",
          "hgnc_id": 16744,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD,Unknown",
          "hgvs_c": "c.1820C>A",
          "hgvs_p": "p.Ser607Tyr"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}
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