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GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 3-49890524-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49890524&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 49890524,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_002447.4",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MST1R",
          "gene_hgnc_id": 7381,
          "hgvs_c": "c.3771G>A",
          "hgvs_p": "p.Glu1257Glu",
          "transcript": "NM_002447.4",
          "protein_id": "NP_002438.2",
          "transcript_support_level": null,
          "aa_start": 1257,
          "aa_end": null,
          "aa_length": 1400,
          "cds_start": 3771,
          "cds_end": null,
          "cds_length": 4203,
          "cdna_start": 4035,
          "cdna_end": null,
          "cdna_length": 4772,
          "mane_select": "ENST00000296474.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MST1R",
          "gene_hgnc_id": 7381,
          "hgvs_c": "c.3771G>A",
          "hgvs_p": "p.Glu1257Glu",
          "transcript": "ENST00000296474.8",
          "protein_id": "ENSP00000296474.3",
          "transcript_support_level": 1,
          "aa_start": 1257,
          "aa_end": null,
          "aa_length": 1400,
          "cds_start": 3771,
          "cds_end": null,
          "cds_length": 4203,
          "cdna_start": 4035,
          "cdna_end": null,
          "cdna_length": 4772,
          "mane_select": "NM_002447.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MST1R",
          "gene_hgnc_id": 7381,
          "hgvs_c": "c.3453G>A",
          "hgvs_p": "p.Glu1151Glu",
          "transcript": "ENST00000621387.4",
          "protein_id": "ENSP00000482642.1",
          "transcript_support_level": 1,
          "aa_start": 1151,
          "aa_end": null,
          "aa_length": 1294,
          "cds_start": 3453,
          "cds_end": null,
          "cds_length": 3885,
          "cdna_start": 3717,
          "cdna_end": null,
          "cdna_length": 4449,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MST1R",
          "gene_hgnc_id": 7381,
          "hgvs_c": "c.3624G>A",
          "hgvs_p": "p.Glu1208Glu",
          "transcript": "NM_001244937.3",
          "protein_id": "NP_001231866.1",
          "transcript_support_level": null,
          "aa_start": 1208,
          "aa_end": null,
          "aa_length": 1351,
          "cds_start": 3624,
          "cds_end": null,
          "cds_length": 4056,
          "cdna_start": 3888,
          "cdna_end": null,
          "cdna_length": 4625,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MST1R",
          "gene_hgnc_id": 7381,
          "hgvs_c": "c.3624G>A",
          "hgvs_p": "p.Glu1208Glu",
          "transcript": "ENST00000344206.8",
          "protein_id": "ENSP00000341325.4",
          "transcript_support_level": 5,
          "aa_start": 1208,
          "aa_end": null,
          "aa_length": 1351,
          "cds_start": 3624,
          "cds_end": null,
          "cds_length": 4056,
          "cdna_start": 3624,
          "cdna_end": null,
          "cdna_length": 4198,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MST1R",
          "gene_hgnc_id": 7381,
          "hgvs_c": "c.3564G>A",
          "hgvs_p": "p.Glu1188Glu",
          "transcript": "NM_001437543.1",
          "protein_id": "NP_001424472.1",
          "transcript_support_level": null,
          "aa_start": 1188,
          "aa_end": null,
          "aa_length": 1331,
          "cds_start": 3564,
          "cds_end": null,
          "cds_length": 3996,
          "cdna_start": 3828,
          "cdna_end": null,
          "cdna_length": 4565,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MST1R",
          "gene_hgnc_id": 7381,
          "hgvs_c": "c.3564G>A",
          "hgvs_p": "p.Glu1188Glu",
          "transcript": "ENST00000434765.6",
          "protein_id": "ENSP00000393294.2",
          "transcript_support_level": 5,
          "aa_start": 1188,
          "aa_end": null,
          "aa_length": 1331,
          "cds_start": 3564,
          "cds_end": null,
          "cds_length": 3996,
          "cdna_start": 3828,
          "cdna_end": null,
          "cdna_length": 4565,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MST1R",
          "gene_hgnc_id": 7381,
          "hgvs_c": "c.3516G>A",
          "hgvs_p": "p.Glu1172Glu",
          "transcript": "ENST00000440292.2",
          "protein_id": "ENSP00000414792.2",
          "transcript_support_level": 3,
          "aa_start": 1172,
          "aa_end": null,
          "aa_length": 1315,
          "cds_start": 3516,
          "cds_end": null,
          "cds_length": 3948,
          "cdna_start": 3780,
          "cdna_end": null,
          "cdna_length": 4517,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MST1R",
          "gene_hgnc_id": 7381,
          "hgvs_c": "c.3453G>A",
          "hgvs_p": "p.Glu1151Glu",
          "transcript": "NM_001318913.2",
          "protein_id": "NP_001305842.1",
          "transcript_support_level": null,
          "aa_start": 1151,
          "aa_end": null,
          "aa_length": 1294,
          "cds_start": 3453,
          "cds_end": null,
          "cds_length": 3885,
          "cdna_start": 3717,
          "cdna_end": null,
          "cdna_length": 4454,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MST1R",
          "gene_hgnc_id": 7381,
          "hgvs_c": "c.3774G>A",
          "hgvs_p": "p.Glu1258Glu",
          "transcript": "XM_005265170.5",
          "protein_id": "XP_005265227.2",
          "transcript_support_level": null,
          "aa_start": 1258,
          "aa_end": null,
          "aa_length": 1401,
          "cds_start": 3774,
          "cds_end": null,
          "cds_length": 4206,
          "cdna_start": 4038,
          "cdna_end": null,
          "cdna_length": 4775,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MST1R",
          "gene_hgnc_id": 7381,
          "hgvs_c": "c.3654G>A",
          "hgvs_p": "p.Glu1218Glu",
          "transcript": "XM_011533739.3",
          "protein_id": "XP_011532041.1",
          "transcript_support_level": null,
          "aa_start": 1218,
          "aa_end": null,
          "aa_length": 1361,
          "cds_start": 3654,
          "cds_end": null,
          "cds_length": 4086,
          "cdna_start": 3918,
          "cdna_end": null,
          "cdna_length": 4655,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MST1R",
          "gene_hgnc_id": 7381,
          "hgvs_c": "c.3651G>A",
          "hgvs_p": "p.Glu1217Glu",
          "transcript": "XM_047448162.1",
          "protein_id": "XP_047304118.1",
          "transcript_support_level": null,
          "aa_start": 1217,
          "aa_end": null,
          "aa_length": 1360,
          "cds_start": 3651,
          "cds_end": null,
          "cds_length": 4083,
          "cdna_start": 3915,
          "cdna_end": null,
          "cdna_length": 4652,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MST1R",
          "gene_hgnc_id": 7381,
          "hgvs_c": "c.3627G>A",
          "hgvs_p": "p.Glu1209Glu",
          "transcript": "XM_011533740.3",
          "protein_id": "XP_011532042.1",
          "transcript_support_level": null,
          "aa_start": 1209,
          "aa_end": null,
          "aa_length": 1352,
          "cds_start": 3627,
          "cds_end": null,
          "cds_length": 4059,
          "cdna_start": 3891,
          "cdna_end": null,
          "cdna_length": 4628,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MST1R",
          "gene_hgnc_id": 7381,
          "hgvs_c": "c.3567G>A",
          "hgvs_p": "p.Glu1189Glu",
          "transcript": "XM_011533741.3",
          "protein_id": "XP_011532043.1",
          "transcript_support_level": null,
          "aa_start": 1189,
          "aa_end": null,
          "aa_length": 1332,
          "cds_start": 3567,
          "cds_end": null,
          "cds_length": 3999,
          "cdna_start": 3831,
          "cdna_end": null,
          "cdna_length": 4568,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MST1R",
          "gene_hgnc_id": 7381,
          "hgvs_c": "c.3774G>A",
          "hgvs_p": "p.Glu1258Glu",
          "transcript": "XM_011533742.3",
          "protein_id": "XP_011532044.1",
          "transcript_support_level": null,
          "aa_start": 1258,
          "aa_end": null,
          "aa_length": 1324,
          "cds_start": 3774,
          "cds_end": null,
          "cds_length": 3975,
          "cdna_start": 4038,
          "cdna_end": null,
          "cdna_length": 4638,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MST1R",
          "gene_hgnc_id": 7381,
          "hgvs_c": "c.3771G>A",
          "hgvs_p": "p.Glu1257Glu",
          "transcript": "XM_047448164.1",
          "protein_id": "XP_047304120.1",
          "transcript_support_level": null,
          "aa_start": 1257,
          "aa_end": null,
          "aa_length": 1323,
          "cds_start": 3771,
          "cds_end": null,
          "cds_length": 3972,
          "cdna_start": 4035,
          "cdna_end": null,
          "cdna_length": 4635,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MST1R",
          "gene_hgnc_id": 7381,
          "hgvs_c": "c.3456G>A",
          "hgvs_p": "p.Glu1152Glu",
          "transcript": "XM_011533744.3",
          "protein_id": "XP_011532046.1",
          "transcript_support_level": null,
          "aa_start": 1152,
          "aa_end": null,
          "aa_length": 1295,
          "cds_start": 3456,
          "cds_end": null,
          "cds_length": 3888,
          "cdna_start": 3720,
          "cdna_end": null,
          "cdna_length": 4457,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MST1R",
          "gene_hgnc_id": 7381,
          "hgvs_c": "c.3651G>A",
          "hgvs_p": "p.Glu1217Glu",
          "transcript": "XM_047448166.1",
          "protein_id": "XP_047304122.1",
          "transcript_support_level": null,
          "aa_start": 1217,
          "aa_end": null,
          "aa_length": 1283,
          "cds_start": 3651,
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          "cds_length": 3852,
          "cdna_start": 3915,
          "cdna_end": null,
          "cdna_length": 4515,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MST1R",
          "gene_hgnc_id": 7381,
          "hgvs_c": "c.3420G>A",
          "hgvs_p": "p.Glu1140Glu",
          "transcript": "XM_047448167.1",
          "protein_id": "XP_047304123.1",
          "transcript_support_level": null,
          "aa_start": 1140,
          "aa_end": null,
          "aa_length": 1283,
          "cds_start": 3420,
          "cds_end": null,
          "cds_length": 3852,
          "cdna_start": 3684,
          "cdna_end": null,
          "cdna_length": 4421,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MST1R",
          "gene_hgnc_id": 7381,
          "hgvs_c": "c.3417G>A",
          "hgvs_p": "p.Glu1139Glu",
          "transcript": "XM_047448168.1",
          "protein_id": "XP_047304124.1",
          "transcript_support_level": null,
          "aa_start": 1139,
          "aa_end": null,
          "aa_length": 1282,
          "cds_start": 3417,
          "cds_end": null,
          "cds_length": 3849,
          "cdna_start": 3681,
          "cdna_end": null,
          "cdna_length": 4418,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
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          "verdict": "Likely_benign",
          "transcript": "NM_002447.4",
          "gene_symbol": "MST1R",
          "hgnc_id": 7381,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.3771G>A",
          "hgvs_p": "p.Glu1257Glu"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}