← 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: 16-15596705-T-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=15596705&ref=T&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 15596705,
      "ref": "T",
      "alt": "G",
      "effect": "synonymous_variant",
      "transcript": "NM_014647.4",
      "consequences": [
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.5217A>C",
          "hgvs_p": "p.Ile1739Ile",
          "transcript": "NM_014647.4",
          "protein_id": "NP_055462.2",
          "transcript_support_level": null,
          "aa_start": 1739,
          "aa_end": null,
          "aa_length": 1742,
          "cds_start": 5217,
          "cds_end": null,
          "cds_length": 5229,
          "cdna_start": 5412,
          "cdna_end": null,
          "cdna_length": 7730,
          "mane_select": "ENST00000396368.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.5217A>C",
          "hgvs_p": "p.Ile1739Ile",
          "transcript": "ENST00000396368.8",
          "protein_id": "ENSP00000379654.3",
          "transcript_support_level": 1,
          "aa_start": 1739,
          "aa_end": null,
          "aa_length": 1742,
          "cds_start": 5217,
          "cds_end": null,
          "cds_length": 5229,
          "cdna_start": 5412,
          "cdna_end": null,
          "cdna_length": 7730,
          "mane_select": "NM_014647.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.5217A>C",
          "hgvs_p": "p.Ile1739Ile",
          "transcript": "ENST00000551742.5",
          "protein_id": "ENSP00000450309.1",
          "transcript_support_level": 1,
          "aa_start": 1739,
          "aa_end": null,
          "aa_length": 1742,
          "cds_start": 5217,
          "cds_end": null,
          "cds_length": 5229,
          "cdna_start": 5366,
          "cdna_end": null,
          "cdna_length": 5900,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.5208A>C",
          "hgvs_p": "p.Ile1736Ile",
          "transcript": "ENST00000548025.5",
          "protein_id": "ENSP00000449376.1",
          "transcript_support_level": 1,
          "aa_start": 1736,
          "aa_end": null,
          "aa_length": 1739,
          "cds_start": 5208,
          "cds_end": null,
          "cds_length": 5220,
          "cdna_start": 5357,
          "cdna_end": null,
          "cdna_length": 5891,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.5217A>C",
          "hgvs_p": "p.Ile1739Ile",
          "transcript": "NM_001184998.2",
          "protein_id": "NP_001171927.1",
          "transcript_support_level": null,
          "aa_start": 1739,
          "aa_end": null,
          "aa_length": 1742,
          "cds_start": 5217,
          "cds_end": null,
          "cds_length": 5229,
          "cdna_start": 5412,
          "cdna_end": null,
          "cdna_length": 7730,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.5208A>C",
          "hgvs_p": "p.Ile1736Ile",
          "transcript": "NM_001184999.2",
          "protein_id": "NP_001171928.1",
          "transcript_support_level": null,
          "aa_start": 1736,
          "aa_end": null,
          "aa_length": 1739,
          "cds_start": 5208,
          "cds_end": null,
          "cds_length": 5220,
          "cdna_start": 5403,
          "cdna_end": null,
          "cdna_length": 7721,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4722A>C",
          "hgvs_p": "p.Ile1574Ile",
          "transcript": "ENST00000540441.6",
          "protein_id": "ENSP00000439819.2",
          "transcript_support_level": 5,
          "aa_start": 1574,
          "aa_end": null,
          "aa_length": 1577,
          "cds_start": 4722,
          "cds_end": null,
          "cds_length": 4734,
          "cdna_start": 4787,
          "cdna_end": null,
          "cdna_length": 7105,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.5220A>C",
          "hgvs_p": "p.Ile1740Ile",
          "transcript": "XM_005255704.2",
          "protein_id": "XP_005255761.1",
          "transcript_support_level": null,
          "aa_start": 1740,
          "aa_end": null,
          "aa_length": 1743,
          "cds_start": 5220,
          "cds_end": null,
          "cds_length": 5232,
          "cdna_start": 5415,
          "cdna_end": null,
          "cdna_length": 7733,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.5220A>C",
          "hgvs_p": "p.Ile1740Ile",
          "transcript": "XM_017023900.3",
          "protein_id": "XP_016879389.1",
          "transcript_support_level": null,
          "aa_start": 1740,
          "aa_end": null,
          "aa_length": 1743,
          "cds_start": 5220,
          "cds_end": null,
          "cds_length": 5232,
          "cdna_start": 5442,
          "cdna_end": null,
          "cdna_length": 7760,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.5217A>C",
          "hgvs_p": "p.Ile1739Ile",
          "transcript": "XM_017023901.3",
          "protein_id": "XP_016879390.1",
          "transcript_support_level": null,
          "aa_start": 1739,
          "aa_end": null,
          "aa_length": 1742,
          "cds_start": 5217,
          "cds_end": null,
          "cds_length": 5229,
          "cdna_start": 5439,
          "cdna_end": null,
          "cdna_length": 7757,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.5217A>C",
          "hgvs_p": "p.Ile1739Ile",
          "transcript": "XM_047434938.1",
          "protein_id": "XP_047290894.1",
          "transcript_support_level": null,
          "aa_start": 1739,
          "aa_end": null,
          "aa_length": 1742,
          "cds_start": 5217,
          "cds_end": null,
          "cds_length": 5229,
          "cdna_start": 5439,
          "cdna_end": null,
          "cdna_length": 7757,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.5214A>C",
          "hgvs_p": "p.Ile1738Ile",
          "transcript": "XM_005255706.3",
          "protein_id": "XP_005255763.1",
          "transcript_support_level": null,
          "aa_start": 1738,
          "aa_end": null,
          "aa_length": 1741,
          "cds_start": 5214,
          "cds_end": null,
          "cds_length": 5226,
          "cdna_start": 5409,
          "cdna_end": null,
          "cdna_length": 7727,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.5214A>C",
          "hgvs_p": "p.Ile1738Ile",
          "transcript": "XM_047434939.1",
          "protein_id": "XP_047290895.1",
          "transcript_support_level": null,
          "aa_start": 1738,
          "aa_end": null,
          "aa_length": 1741,
          "cds_start": 5214,
          "cds_end": null,
          "cds_length": 5226,
          "cdna_start": 5436,
          "cdna_end": null,
          "cdna_length": 7754,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.5190A>C",
          "hgvs_p": "p.Ile1730Ile",
          "transcript": "XM_005255707.3",
          "protein_id": "XP_005255764.1",
          "transcript_support_level": null,
          "aa_start": 1730,
          "aa_end": null,
          "aa_length": 1733,
          "cds_start": 5190,
          "cds_end": null,
          "cds_length": 5202,
          "cdna_start": 5385,
          "cdna_end": null,
          "cdna_length": 7703,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.5190A>C",
          "hgvs_p": "p.Ile1730Ile",
          "transcript": "XM_047434940.1",
          "protein_id": "XP_047290896.1",
          "transcript_support_level": null,
          "aa_start": 1730,
          "aa_end": null,
          "aa_length": 1733,
          "cds_start": 5190,
          "cds_end": null,
          "cds_length": 5202,
          "cdna_start": 5412,
          "cdna_end": null,
          "cdna_length": 7730,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.5187A>C",
          "hgvs_p": "p.Ile1729Ile",
          "transcript": "XM_047434941.1",
          "protein_id": "XP_047290897.1",
          "transcript_support_level": null,
          "aa_start": 1729,
          "aa_end": null,
          "aa_length": 1732,
          "cds_start": 5187,
          "cds_end": null,
          "cds_length": 5199,
          "cdna_start": 5382,
          "cdna_end": null,
          "cdna_length": 7700,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.5187A>C",
          "hgvs_p": "p.Ile1729Ile",
          "transcript": "XM_047434942.1",
          "protein_id": "XP_047290898.1",
          "transcript_support_level": null,
          "aa_start": 1729,
          "aa_end": null,
          "aa_length": 1732,
          "cds_start": 5187,
          "cds_end": null,
          "cds_length": 5199,
          "cdna_start": 5409,
          "cdna_end": null,
          "cdna_length": 7727,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.5058A>C",
          "hgvs_p": "p.Ile1686Ile",
          "transcript": "XM_017023902.3",
          "protein_id": "XP_016879391.1",
          "transcript_support_level": null,
          "aa_start": 1686,
          "aa_end": null,
          "aa_length": 1689,
          "cds_start": 5058,
          "cds_end": null,
          "cds_length": 5070,
          "cdna_start": 5253,
          "cdna_end": null,
          "cdna_length": 7571,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.5055A>C",
          "hgvs_p": "p.Ile1685Ile",
          "transcript": "XM_047434943.1",
          "protein_id": "XP_047290899.1",
          "transcript_support_level": null,
          "aa_start": 1685,
          "aa_end": null,
          "aa_length": 1688,
          "cds_start": 5055,
          "cds_end": null,
          "cds_length": 5067,
          "cdna_start": 5250,
          "cdna_end": null,
          "cdna_length": 7568,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.5055A>C",
          "hgvs_p": "p.Ile1685Ile",
          "transcript": "XM_047434944.1",
          "protein_id": "XP_047290900.1",
          "transcript_support_level": null,
          "aa_start": 1685,
          "aa_end": null,
          "aa_length": 1688,
          "cds_start": 5055,
          "cds_end": null,
          "cds_length": 5067,
          "cdna_start": 5277,
          "cdna_end": null,
          "cdna_length": 7595,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4791A>C",
          "hgvs_p": "p.Ile1597Ile",
          "transcript": "XM_017023903.3",
          "protein_id": "XP_016879392.1",
          "transcript_support_level": null,
          "aa_start": 1597,
          "aa_end": null,
          "aa_length": 1600,
          "cds_start": 4791,
          "cds_end": null,
          "cds_length": 4803,
          "cdna_start": 4986,
          "cdna_end": null,
          "cdna_length": 7304,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4788A>C",
          "hgvs_p": "p.Ile1596Ile",
          "transcript": "XM_017023904.3",
          "protein_id": "XP_016879393.1",
          "transcript_support_level": null,
          "aa_start": 1596,
          "aa_end": null,
          "aa_length": 1599,
          "cds_start": 4788,
          "cds_end": null,
          "cds_length": 4800,
          "cdna_start": 4983,
          "cdna_end": null,
          "cdna_length": 7301,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4761A>C",
          "hgvs_p": "p.Ile1587Ile",
          "transcript": "XM_047434945.1",
          "protein_id": "XP_047290901.1",
          "transcript_support_level": null,
          "aa_start": 1587,
          "aa_end": null,
          "aa_length": 1590,
          "cds_start": 4761,
          "cds_end": null,
          "cds_length": 4773,
          "cdna_start": 4956,
          "cdna_end": null,
          "cdna_length": 7274,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4683A>C",
          "hgvs_p": "p.Ile1561Ile",
          "transcript": "XM_017023905.3",
          "protein_id": "XP_016879394.1",
          "transcript_support_level": null,
          "aa_start": 1561,
          "aa_end": null,
          "aa_length": 1564,
          "cds_start": 4683,
          "cds_end": null,
          "cds_length": 4695,
          "cdna_start": 4878,
          "cdna_end": null,
          "cdna_length": 7196,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4680A>C",
          "hgvs_p": "p.Ile1560Ile",
          "transcript": "XM_017023906.3",
          "protein_id": "XP_016879395.1",
          "transcript_support_level": null,
          "aa_start": 1560,
          "aa_end": null,
          "aa_length": 1563,
          "cds_start": 4680,
          "cds_end": null,
          "cds_length": 4692,
          "cdna_start": 4875,
          "cdna_end": null,
          "cdna_length": 7193,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4680A>C",
          "hgvs_p": "p.Ile1560Ile",
          "transcript": "XM_047434946.1",
          "protein_id": "XP_047290902.1",
          "transcript_support_level": null,
          "aa_start": 1560,
          "aa_end": null,
          "aa_length": 1563,
          "cds_start": 4680,
          "cds_end": null,
          "cds_length": 4692,
          "cdna_start": 4875,
          "cdna_end": null,
          "cdna_length": 7193,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4680A>C",
          "hgvs_p": "p.Ile1560Ile",
          "transcript": "XM_047434947.1",
          "protein_id": "XP_047290903.1",
          "transcript_support_level": null,
          "aa_start": 1560,
          "aa_end": null,
          "aa_length": 1563,
          "cds_start": 4680,
          "cds_end": null,
          "cds_length": 4692,
          "cdna_start": 4902,
          "cdna_end": null,
          "cdna_length": 7220,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4677A>C",
          "hgvs_p": "p.Ile1559Ile",
          "transcript": "XM_047434948.1",
          "protein_id": "XP_047290904.1",
          "transcript_support_level": null,
          "aa_start": 1559,
          "aa_end": null,
          "aa_length": 1562,
          "cds_start": 4677,
          "cds_end": null,
          "cds_length": 4689,
          "cdna_start": 4872,
          "cdna_end": null,
          "cdna_length": 7190,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4653A>C",
          "hgvs_p": "p.Ile1551Ile",
          "transcript": "XM_047434949.1",
          "protein_id": "XP_047290905.1",
          "transcript_support_level": null,
          "aa_start": 1551,
          "aa_end": null,
          "aa_length": 1554,
          "cds_start": 4653,
          "cds_end": null,
          "cds_length": 4665,
          "cdna_start": 4848,
          "cdna_end": null,
          "cdna_length": 7166,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4650A>C",
          "hgvs_p": "p.Ile1550Ile",
          "transcript": "XM_047434950.1",
          "protein_id": "XP_047290906.1",
          "transcript_support_level": null,
          "aa_start": 1550,
          "aa_end": null,
          "aa_length": 1553,
          "cds_start": 4650,
          "cds_end": null,
          "cds_length": 4662,
          "cdna_start": 4845,
          "cdna_end": null,
          "cdna_length": 7163,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4629A>C",
          "hgvs_p": "p.Ile1543Ile",
          "transcript": "XM_047434951.1",
          "protein_id": "XP_047290907.1",
          "transcript_support_level": null,
          "aa_start": 1543,
          "aa_end": null,
          "aa_length": 1546,
          "cds_start": 4629,
          "cds_end": null,
          "cds_length": 4641,
          "cdna_start": 4824,
          "cdna_end": null,
          "cdna_length": 7142,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4521A>C",
          "hgvs_p": "p.Ile1507Ile",
          "transcript": "XM_047434953.1",
          "protein_id": "XP_047290909.1",
          "transcript_support_level": null,
          "aa_start": 1507,
          "aa_end": null,
          "aa_length": 1510,
          "cds_start": 4521,
          "cds_end": null,
          "cds_length": 4533,
          "cdna_start": 4716,
          "cdna_end": null,
          "cdna_length": 7034,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4254A>C",
          "hgvs_p": "p.Ile1418Ile",
          "transcript": "XM_047434954.1",
          "protein_id": "XP_047290910.1",
          "transcript_support_level": null,
          "aa_start": 1418,
          "aa_end": null,
          "aa_length": 1421,
          "cds_start": 4254,
          "cds_end": null,
          "cds_length": 4266,
          "cdna_start": 4449,
          "cdna_end": null,
          "cdna_length": 6767,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4224A>C",
          "hgvs_p": "p.Ile1408Ile",
          "transcript": "XM_047434955.1",
          "protein_id": "XP_047290911.1",
          "transcript_support_level": null,
          "aa_start": 1408,
          "aa_end": null,
          "aa_length": 1411,
          "cds_start": 4224,
          "cds_end": null,
          "cds_length": 4236,
          "cdna_start": 4419,
          "cdna_end": null,
          "cdna_length": 6737,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "n.*471A>C",
          "hgvs_p": null,
          "transcript": "ENST00000551878.1",
          "protein_id": "ENSP00000449050.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 600,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "n.*1927A>C",
          "hgvs_p": null,
          "transcript": "ENST00000552553.5",
          "protein_id": "ENSP00000449329.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5053,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "n.1840A>C",
          "hgvs_p": null,
          "transcript": "ENST00000552771.5",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4157,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "n.*471A>C",
          "hgvs_p": null,
          "transcript": "ENST00000551878.1",
          "protein_id": "ENSP00000449050.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 600,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "n.*1927A>C",
          "hgvs_p": null,
          "transcript": "ENST00000552553.5",
          "protein_id": "ENSP00000449329.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5053,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "BMERB1",
          "gene_hgnc_id": 19213,
          "hgvs_c": "c.*12+5590T>G",
          "hgvs_p": null,
          "transcript": "ENST00000565857.1",
          "protein_id": "ENSP00000456084.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 114,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 345,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 497,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "n.*62A>C",
          "hgvs_p": null,
          "transcript": "ENST00000551579.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 489,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "MARF1",
      "gene_hgnc_id": 29562,
      "dbsnp": "rs1311518371",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.3700000047683716,
      "computational_prediction_selected": "Benign",
      "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": -0.37,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.751,
      "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": -1,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Moderate,BP7",
      "acmg_by_gene": [
        {
          "score": -1,
          "benign_score": 3,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_014647.4",
          "gene_symbol": "MARF1",
          "hgnc_id": 29562,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.5217A>C",
          "hgvs_p": "p.Ile1739Ile"
        },
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000565857.1",
          "gene_symbol": "BMERB1",
          "hgnc_id": 19213,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.*12+5590T>G",
          "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
}