← 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: 16-15599012-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=15599012&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 15599012,
      "ref": "G",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_014647.4",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4826C>G",
          "hgvs_p": "p.Thr1609Arg",
          "transcript": "NM_014647.4",
          "protein_id": "NP_055462.2",
          "transcript_support_level": null,
          "aa_start": 1609,
          "aa_end": null,
          "aa_length": 1742,
          "cds_start": 4826,
          "cds_end": null,
          "cds_length": 5229,
          "cdna_start": 5021,
          "cdna_end": null,
          "cdna_length": 7730,
          "mane_select": "ENST00000396368.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4826C>G",
          "hgvs_p": "p.Thr1609Arg",
          "transcript": "ENST00000396368.8",
          "protein_id": "ENSP00000379654.3",
          "transcript_support_level": 1,
          "aa_start": 1609,
          "aa_end": null,
          "aa_length": 1742,
          "cds_start": 4826,
          "cds_end": null,
          "cds_length": 5229,
          "cdna_start": 5021,
          "cdna_end": null,
          "cdna_length": 7730,
          "mane_select": "NM_014647.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4826C>G",
          "hgvs_p": "p.Thr1609Arg",
          "transcript": "ENST00000551742.5",
          "protein_id": "ENSP00000450309.1",
          "transcript_support_level": 1,
          "aa_start": 1609,
          "aa_end": null,
          "aa_length": 1742,
          "cds_start": 4826,
          "cds_end": null,
          "cds_length": 5229,
          "cdna_start": 4975,
          "cdna_end": null,
          "cdna_length": 5900,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4817C>G",
          "hgvs_p": "p.Thr1606Arg",
          "transcript": "ENST00000548025.5",
          "protein_id": "ENSP00000449376.1",
          "transcript_support_level": 1,
          "aa_start": 1606,
          "aa_end": null,
          "aa_length": 1739,
          "cds_start": 4817,
          "cds_end": null,
          "cds_length": 5220,
          "cdna_start": 4966,
          "cdna_end": null,
          "cdna_length": 5891,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4826C>G",
          "hgvs_p": "p.Thr1609Arg",
          "transcript": "NM_001184998.2",
          "protein_id": "NP_001171927.1",
          "transcript_support_level": null,
          "aa_start": 1609,
          "aa_end": null,
          "aa_length": 1742,
          "cds_start": 4826,
          "cds_end": null,
          "cds_length": 5229,
          "cdna_start": 5021,
          "cdna_end": null,
          "cdna_length": 7730,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4817C>G",
          "hgvs_p": "p.Thr1606Arg",
          "transcript": "NM_001184999.2",
          "protein_id": "NP_001171928.1",
          "transcript_support_level": null,
          "aa_start": 1606,
          "aa_end": null,
          "aa_length": 1739,
          "cds_start": 4817,
          "cds_end": null,
          "cds_length": 5220,
          "cdna_start": 5012,
          "cdna_end": null,
          "cdna_length": 7721,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4331C>G",
          "hgvs_p": "p.Thr1444Arg",
          "transcript": "ENST00000540441.6",
          "protein_id": "ENSP00000439819.2",
          "transcript_support_level": 5,
          "aa_start": 1444,
          "aa_end": null,
          "aa_length": 1577,
          "cds_start": 4331,
          "cds_end": null,
          "cds_length": 4734,
          "cdna_start": 4396,
          "cdna_end": null,
          "cdna_length": 7105,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4829C>G",
          "hgvs_p": "p.Thr1610Arg",
          "transcript": "XM_005255704.2",
          "protein_id": "XP_005255761.1",
          "transcript_support_level": null,
          "aa_start": 1610,
          "aa_end": null,
          "aa_length": 1743,
          "cds_start": 4829,
          "cds_end": null,
          "cds_length": 5232,
          "cdna_start": 5024,
          "cdna_end": null,
          "cdna_length": 7733,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4829C>G",
          "hgvs_p": "p.Thr1610Arg",
          "transcript": "XM_017023900.3",
          "protein_id": "XP_016879389.1",
          "transcript_support_level": null,
          "aa_start": 1610,
          "aa_end": null,
          "aa_length": 1743,
          "cds_start": 4829,
          "cds_end": null,
          "cds_length": 5232,
          "cdna_start": 5051,
          "cdna_end": null,
          "cdna_length": 7760,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4826C>G",
          "hgvs_p": "p.Thr1609Arg",
          "transcript": "XM_017023901.3",
          "protein_id": "XP_016879390.1",
          "transcript_support_level": null,
          "aa_start": 1609,
          "aa_end": null,
          "aa_length": 1742,
          "cds_start": 4826,
          "cds_end": null,
          "cds_length": 5229,
          "cdna_start": 5048,
          "cdna_end": null,
          "cdna_length": 7757,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4826C>G",
          "hgvs_p": "p.Thr1609Arg",
          "transcript": "XM_047434938.1",
          "protein_id": "XP_047290894.1",
          "transcript_support_level": null,
          "aa_start": 1609,
          "aa_end": null,
          "aa_length": 1742,
          "cds_start": 4826,
          "cds_end": null,
          "cds_length": 5229,
          "cdna_start": 5048,
          "cdna_end": null,
          "cdna_length": 7757,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4823C>G",
          "hgvs_p": "p.Thr1608Arg",
          "transcript": "XM_005255706.3",
          "protein_id": "XP_005255763.1",
          "transcript_support_level": null,
          "aa_start": 1608,
          "aa_end": null,
          "aa_length": 1741,
          "cds_start": 4823,
          "cds_end": null,
          "cds_length": 5226,
          "cdna_start": 5018,
          "cdna_end": null,
          "cdna_length": 7727,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4823C>G",
          "hgvs_p": "p.Thr1608Arg",
          "transcript": "XM_047434939.1",
          "protein_id": "XP_047290895.1",
          "transcript_support_level": null,
          "aa_start": 1608,
          "aa_end": null,
          "aa_length": 1741,
          "cds_start": 4823,
          "cds_end": null,
          "cds_length": 5226,
          "cdna_start": 5045,
          "cdna_end": null,
          "cdna_length": 7754,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4799C>G",
          "hgvs_p": "p.Thr1600Arg",
          "transcript": "XM_005255707.3",
          "protein_id": "XP_005255764.1",
          "transcript_support_level": null,
          "aa_start": 1600,
          "aa_end": null,
          "aa_length": 1733,
          "cds_start": 4799,
          "cds_end": null,
          "cds_length": 5202,
          "cdna_start": 4994,
          "cdna_end": null,
          "cdna_length": 7703,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4799C>G",
          "hgvs_p": "p.Thr1600Arg",
          "transcript": "XM_047434940.1",
          "protein_id": "XP_047290896.1",
          "transcript_support_level": null,
          "aa_start": 1600,
          "aa_end": null,
          "aa_length": 1733,
          "cds_start": 4799,
          "cds_end": null,
          "cds_length": 5202,
          "cdna_start": 5021,
          "cdna_end": null,
          "cdna_length": 7730,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4796C>G",
          "hgvs_p": "p.Thr1599Arg",
          "transcript": "XM_047434941.1",
          "protein_id": "XP_047290897.1",
          "transcript_support_level": null,
          "aa_start": 1599,
          "aa_end": null,
          "aa_length": 1732,
          "cds_start": 4796,
          "cds_end": null,
          "cds_length": 5199,
          "cdna_start": 4991,
          "cdna_end": null,
          "cdna_length": 7700,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4796C>G",
          "hgvs_p": "p.Thr1599Arg",
          "transcript": "XM_047434942.1",
          "protein_id": "XP_047290898.1",
          "transcript_support_level": null,
          "aa_start": 1599,
          "aa_end": null,
          "aa_length": 1732,
          "cds_start": 4796,
          "cds_end": null,
          "cds_length": 5199,
          "cdna_start": 5018,
          "cdna_end": null,
          "cdna_length": 7727,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4667C>G",
          "hgvs_p": "p.Thr1556Arg",
          "transcript": "XM_017023902.3",
          "protein_id": "XP_016879391.1",
          "transcript_support_level": null,
          "aa_start": 1556,
          "aa_end": null,
          "aa_length": 1689,
          "cds_start": 4667,
          "cds_end": null,
          "cds_length": 5070,
          "cdna_start": 4862,
          "cdna_end": null,
          "cdna_length": 7571,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4664C>G",
          "hgvs_p": "p.Thr1555Arg",
          "transcript": "XM_047434943.1",
          "protein_id": "XP_047290899.1",
          "transcript_support_level": null,
          "aa_start": 1555,
          "aa_end": null,
          "aa_length": 1688,
          "cds_start": 4664,
          "cds_end": null,
          "cds_length": 5067,
          "cdna_start": 4859,
          "cdna_end": null,
          "cdna_length": 7568,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4664C>G",
          "hgvs_p": "p.Thr1555Arg",
          "transcript": "XM_047434944.1",
          "protein_id": "XP_047290900.1",
          "transcript_support_level": null,
          "aa_start": 1555,
          "aa_end": null,
          "aa_length": 1688,
          "cds_start": 4664,
          "cds_end": null,
          "cds_length": 5067,
          "cdna_start": 4886,
          "cdna_end": null,
          "cdna_length": 7595,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4400C>G",
          "hgvs_p": "p.Thr1467Arg",
          "transcript": "XM_017023903.3",
          "protein_id": "XP_016879392.1",
          "transcript_support_level": null,
          "aa_start": 1467,
          "aa_end": null,
          "aa_length": 1600,
          "cds_start": 4400,
          "cds_end": null,
          "cds_length": 4803,
          "cdna_start": 4595,
          "cdna_end": null,
          "cdna_length": 7304,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4397C>G",
          "hgvs_p": "p.Thr1466Arg",
          "transcript": "XM_017023904.3",
          "protein_id": "XP_016879393.1",
          "transcript_support_level": null,
          "aa_start": 1466,
          "aa_end": null,
          "aa_length": 1599,
          "cds_start": 4397,
          "cds_end": null,
          "cds_length": 4800,
          "cdna_start": 4592,
          "cdna_end": null,
          "cdna_length": 7301,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4370C>G",
          "hgvs_p": "p.Thr1457Arg",
          "transcript": "XM_047434945.1",
          "protein_id": "XP_047290901.1",
          "transcript_support_level": null,
          "aa_start": 1457,
          "aa_end": null,
          "aa_length": 1590,
          "cds_start": 4370,
          "cds_end": null,
          "cds_length": 4773,
          "cdna_start": 4565,
          "cdna_end": null,
          "cdna_length": 7274,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4292C>G",
          "hgvs_p": "p.Thr1431Arg",
          "transcript": "XM_017023905.3",
          "protein_id": "XP_016879394.1",
          "transcript_support_level": null,
          "aa_start": 1431,
          "aa_end": null,
          "aa_length": 1564,
          "cds_start": 4292,
          "cds_end": null,
          "cds_length": 4695,
          "cdna_start": 4487,
          "cdna_end": null,
          "cdna_length": 7196,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4289C>G",
          "hgvs_p": "p.Thr1430Arg",
          "transcript": "XM_017023906.3",
          "protein_id": "XP_016879395.1",
          "transcript_support_level": null,
          "aa_start": 1430,
          "aa_end": null,
          "aa_length": 1563,
          "cds_start": 4289,
          "cds_end": null,
          "cds_length": 4692,
          "cdna_start": 4484,
          "cdna_end": null,
          "cdna_length": 7193,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4289C>G",
          "hgvs_p": "p.Thr1430Arg",
          "transcript": "XM_047434946.1",
          "protein_id": "XP_047290902.1",
          "transcript_support_level": null,
          "aa_start": 1430,
          "aa_end": null,
          "aa_length": 1563,
          "cds_start": 4289,
          "cds_end": null,
          "cds_length": 4692,
          "cdna_start": 4484,
          "cdna_end": null,
          "cdna_length": 7193,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4289C>G",
          "hgvs_p": "p.Thr1430Arg",
          "transcript": "XM_047434947.1",
          "protein_id": "XP_047290903.1",
          "transcript_support_level": null,
          "aa_start": 1430,
          "aa_end": null,
          "aa_length": 1563,
          "cds_start": 4289,
          "cds_end": null,
          "cds_length": 4692,
          "cdna_start": 4511,
          "cdna_end": null,
          "cdna_length": 7220,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4286C>G",
          "hgvs_p": "p.Thr1429Arg",
          "transcript": "XM_047434948.1",
          "protein_id": "XP_047290904.1",
          "transcript_support_level": null,
          "aa_start": 1429,
          "aa_end": null,
          "aa_length": 1562,
          "cds_start": 4286,
          "cds_end": null,
          "cds_length": 4689,
          "cdna_start": 4481,
          "cdna_end": null,
          "cdna_length": 7190,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4262C>G",
          "hgvs_p": "p.Thr1421Arg",
          "transcript": "XM_047434949.1",
          "protein_id": "XP_047290905.1",
          "transcript_support_level": null,
          "aa_start": 1421,
          "aa_end": null,
          "aa_length": 1554,
          "cds_start": 4262,
          "cds_end": null,
          "cds_length": 4665,
          "cdna_start": 4457,
          "cdna_end": null,
          "cdna_length": 7166,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4259C>G",
          "hgvs_p": "p.Thr1420Arg",
          "transcript": "XM_047434950.1",
          "protein_id": "XP_047290906.1",
          "transcript_support_level": null,
          "aa_start": 1420,
          "aa_end": null,
          "aa_length": 1553,
          "cds_start": 4259,
          "cds_end": null,
          "cds_length": 4662,
          "cdna_start": 4454,
          "cdna_end": null,
          "cdna_length": 7163,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4238C>G",
          "hgvs_p": "p.Thr1413Arg",
          "transcript": "XM_047434951.1",
          "protein_id": "XP_047290907.1",
          "transcript_support_level": null,
          "aa_start": 1413,
          "aa_end": null,
          "aa_length": 1546,
          "cds_start": 4238,
          "cds_end": null,
          "cds_length": 4641,
          "cdna_start": 4433,
          "cdna_end": null,
          "cdna_length": 7142,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4130C>G",
          "hgvs_p": "p.Thr1377Arg",
          "transcript": "XM_047434953.1",
          "protein_id": "XP_047290909.1",
          "transcript_support_level": null,
          "aa_start": 1377,
          "aa_end": null,
          "aa_length": 1510,
          "cds_start": 4130,
          "cds_end": null,
          "cds_length": 4533,
          "cdna_start": 4325,
          "cdna_end": null,
          "cdna_length": 7034,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.3863C>G",
          "hgvs_p": "p.Thr1288Arg",
          "transcript": "XM_047434954.1",
          "protein_id": "XP_047290910.1",
          "transcript_support_level": null,
          "aa_start": 1288,
          "aa_end": null,
          "aa_length": 1421,
          "cds_start": 3863,
          "cds_end": null,
          "cds_length": 4266,
          "cdna_start": 4058,
          "cdna_end": null,
          "cdna_length": 6767,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.3833C>G",
          "hgvs_p": "p.Thr1278Arg",
          "transcript": "XM_047434955.1",
          "protein_id": "XP_047290911.1",
          "transcript_support_level": null,
          "aa_start": 1278,
          "aa_end": null,
          "aa_length": 1411,
          "cds_start": 3833,
          "cds_end": null,
          "cds_length": 4236,
          "cdna_start": 4028,
          "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.478C>G",
          "hgvs_p": null,
          "transcript": "ENST00000549337.1",
          "protein_id": null,
          "transcript_support_level": 4,
          "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": 568,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "n.160C>G",
          "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
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "n.*80C>G",
          "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": 24,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "n.*1536C>G",
          "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": 2,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "n.1449C>G",
          "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": 2,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "n.*80C>G",
          "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": 24,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "n.*1536C>G",
          "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+7897G>C",
          "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
        }
      ],
      "gene_symbol": "MARF1",
      "gene_hgnc_id": 29562,
      "dbsnp": null,
      "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": 0.10383278131484985,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.186,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.0699,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.43,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.576,
      "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_014647.4",
          "gene_symbol": "MARF1",
          "hgnc_id": 29562,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.4826C>G",
          "hgvs_p": "p.Thr1609Arg"
        },
        {
          "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+7897G>C",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}