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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: X-124022370-CAAAAA-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=124022370&ref=CAAAAA&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "X",
      "pos": 124022370,
      "ref": "CAAAAA",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_001042749.2",
      "consequences": [
        {
          "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": 35,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "STAG2",
          "gene_hgnc_id": 11355,
          "hgvs_c": "c.-97-149_-97-145delAAAAA",
          "hgvs_p": null,
          "transcript": "NM_001042750.2",
          "protein_id": "NP_001036215.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1268,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3807,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000371145.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001042750.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "STAG2",
          "gene_hgnc_id": 11355,
          "hgvs_c": "c.-97-160_-97-156delAAAAA",
          "hgvs_p": null,
          "transcript": "ENST00000371145.8",
          "protein_id": "ENSP00000360187.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1268,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3807,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001042750.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000371145.8"
        },
        {
          "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": 35,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "STAG2",
          "gene_hgnc_id": 11355,
          "hgvs_c": "c.-97-160_-97-156delAAAAA",
          "hgvs_p": null,
          "transcript": "ENST00000218089.13",
          "protein_id": "ENSP00000218089.9",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1268,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3807,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000218089.13"
        },
        {
          "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": 34,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "STAG2",
          "gene_hgnc_id": 11355,
          "hgvs_c": "c.-97-160_-97-156delAAAAA",
          "hgvs_p": null,
          "transcript": "ENST00000371144.7",
          "protein_id": "ENSP00000360186.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1231,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3696,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000371144.7"
        },
        {
          "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": 33,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STAG2",
          "gene_hgnc_id": 11355,
          "hgvs_c": "c.-97-160_-97-156delAAAAA",
          "hgvs_p": null,
          "transcript": "ENST00000371157.7",
          "protein_id": "ENSP00000360199.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1231,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3696,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000371157.7"
        },
        {
          "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": 34,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "STAG2",
          "gene_hgnc_id": 11355,
          "hgvs_c": "c.-97-160_-97-156delAAAAA",
          "hgvs_p": null,
          "transcript": "ENST00000371160.5",
          "protein_id": "ENSP00000360202.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1231,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3696,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000371160.5"
        },
        {
          "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": 35,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "STAG2",
          "gene_hgnc_id": 11355,
          "hgvs_c": "c.-97-149_-97-145delAAAAA",
          "hgvs_p": null,
          "transcript": "NM_001042749.2",
          "protein_id": "NP_001036214.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1268,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3807,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001042749.2"
        },
        {
          "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": 34,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STAG2",
          "gene_hgnc_id": 11355,
          "hgvs_c": "c.-97-149_-97-145delAAAAA",
          "hgvs_p": null,
          "transcript": "NM_001375366.1",
          "protein_id": "NP_001362295.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1268,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3807,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375366.1"
        },
        {
          "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": 35,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "STAG2",
          "gene_hgnc_id": 11355,
          "hgvs_c": "c.-97-149_-97-145delAAAAA",
          "hgvs_p": null,
          "transcript": "NM_001375367.1",
          "protein_id": "NP_001362296.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1268,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3807,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375367.1"
        },
        {
          "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": 34,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STAG2",
          "gene_hgnc_id": 11355,
          "hgvs_c": "c.-97-149_-97-145delAAAAA",
          "hgvs_p": null,
          "transcript": "NM_001375368.1",
          "protein_id": "NP_001362297.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1268,
          "cds_start": null,
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          "cds_length": 3807,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375368.1"
        },
        {
          "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": 34,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STAG2",
          "gene_hgnc_id": 11355,
          "hgvs_c": "c.-97-149_-97-145delAAAAA",
          "hgvs_p": null,
          "transcript": "NM_001375369.1",
          "protein_id": "NP_001362298.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1268,
          "cds_start": null,
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          "cds_length": 3807,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375369.1"
        },
        {
          "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": 35,
          "intron_rank": 2,
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          "gene_symbol": "STAG2",
          "gene_hgnc_id": 11355,
          "hgvs_c": "c.-97-149_-97-145delAAAAA",
          "hgvs_p": null,
          "transcript": "NM_001375370.1",
          "protein_id": "NP_001362299.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1268,
          "cds_start": null,
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          "cds_length": 3807,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375370.1"
        },
        {
          "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": 34,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STAG2",
          "gene_hgnc_id": 11355,
          "hgvs_c": "c.-97-149_-97-145delAAAAA",
          "hgvs_p": null,
          "transcript": "NM_001375371.1",
          "protein_id": "NP_001362300.1",
          "transcript_support_level": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375371.1"
        },
        {
          "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": 34,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "STAG2",
          "gene_hgnc_id": 11355,
          "hgvs_c": "c.-97-149_-97-145delAAAAA",
          "hgvs_p": null,
          "transcript": "NM_001375372.1",
          "protein_id": "NP_001362301.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "feature": "NM_001375372.1"
        },
        {
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          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 36,
          "intron_rank": 3,
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          "gene_symbol": "STAG2",
          "gene_hgnc_id": 11355,
          "hgvs_c": "c.-97-149_-97-145delAAAAA",
          "hgvs_p": null,
          "transcript": "NM_001441081.1",
          "protein_id": "NP_001428010.1",
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001441081.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 35,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "STAG2",
          "gene_hgnc_id": 11355,
          "hgvs_c": "c.-97-149_-97-145delAAAAA",
          "hgvs_p": null,
          "transcript": "NM_001441082.1",
          "protein_id": "NP_001428011.1",
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          "feature": "NM_001441082.1"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 35,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "STAG2",
          "gene_hgnc_id": 11355,
          "hgvs_c": "c.-97-149_-97-145delAAAAA",
          "hgvs_p": null,
          "transcript": "NM_001441085.1",
          "protein_id": "NP_001428014.1",
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        {
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          ],
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          "intron_rank": 5,
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          "gene_symbol": "STAG2",
          "gene_hgnc_id": 11355,
          "hgvs_c": "c.-97-160_-97-156delAAAAA",
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          "transcript": "ENST00000687852.1",
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        },
        {
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          "gene_symbol": "STAG2",
          "gene_hgnc_id": 11355,
          "hgvs_c": "c.-97-160_-97-156delAAAAA",
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          "transcript": "ENST00000899964.1",
          "protein_id": "ENSP00000570023.1",
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          "biotype": "protein_coding",
          "feature": "ENST00000899964.1"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 35,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "STAG2",
          "gene_hgnc_id": 11355,
          "hgvs_c": "c.-97-160_-97-156delAAAAA",
          "hgvs_p": null,
          "transcript": "ENST00000899967.1",
          "protein_id": "ENSP00000570026.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
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          "gene_symbol": "STAG2",
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          "transcript": "ENST00000691035.1",
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          "transcript_support_level": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "retained_intron",
          "feature": "ENST00000691035.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
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          "exon_count": 18,
          "intron_rank": 1,
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          "gene_symbol": "STAG2",
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          "hgvs_c": "n.140-160_140-156delAAAAA",
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          "transcript": "ENST00000691383.1",
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          "aa_start": null,
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          "aa_length": null,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000691383.1"
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      ],
      "gene_symbol": "STAG2",
      "gene_hgnc_id": 11355,
      "dbsnp": "rs5903652",
      "frequency_reference_population": 0.000076322285,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 6,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.0000763223,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 6,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": null,
      "computational_prediction_selected": null,
      "computational_source_selected": null,
      "splice_score_selected": null,
      "splice_prediction_selected": null,
      "splice_source_selected": null,
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": null,
      "bayesdelnoaf_prediction": null,
      "phylop100way_score": 0.103,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": null,
      "spliceai_max_prediction": null,
      "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": "",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 0,
          "pathogenic_score": 0,
          "criteria": [],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001042749.2",
          "gene_symbol": "STAG2",
          "hgnc_id": 11355,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "XL",
          "hgvs_c": "c.-97-149_-97-145delAAAAA",
          "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
}