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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: 2-86232731-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=86232731&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 86232731,
      "ref": "G",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "ENST00000538924.7",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.489C>A",
          "hgvs_p": "p.Gly163Gly",
          "transcript": "NM_001371279.1",
          "protein_id": "NP_001358208.1",
          "transcript_support_level": null,
          "aa_start": 163,
          "aa_end": null,
          "aa_length": 284,
          "cds_start": 489,
          "cds_end": null,
          "cds_length": 855,
          "cdna_start": 605,
          "cdna_end": null,
          "cdna_length": 4017,
          "mane_select": "ENST00000538924.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.489C>A",
          "hgvs_p": "p.Gly163Gly",
          "transcript": "ENST00000538924.7",
          "protein_id": "ENSP00000438346.3",
          "transcript_support_level": 5,
          "aa_start": 163,
          "aa_end": null,
          "aa_length": 284,
          "cds_start": 489,
          "cds_end": null,
          "cds_length": 855,
          "cdna_start": 605,
          "cdna_end": null,
          "cdna_length": 4017,
          "mane_select": "NM_001371279.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.489C>A",
          "hgvs_p": "p.Gly163Gly",
          "transcript": "ENST00000165698.9",
          "protein_id": "ENSP00000165698.5",
          "transcript_support_level": 1,
          "aa_start": 163,
          "aa_end": null,
          "aa_length": 201,
          "cds_start": 489,
          "cds_end": null,
          "cds_length": 606,
          "cdna_start": 633,
          "cdna_end": null,
          "cdna_length": 3857,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.254C>A",
          "hgvs_p": "p.Ala85Glu",
          "transcript": "NM_001164732.2",
          "protein_id": "NP_001158204.1",
          "transcript_support_level": null,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 143,
          "cds_start": 254,
          "cds_end": null,
          "cds_length": 432,
          "cdna_start": 370,
          "cdna_end": null,
          "cdna_length": 3594,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.254C>A",
          "hgvs_p": "p.Ala85Glu",
          "transcript": "ENST00000541910.6",
          "protein_id": "ENSP00000442681.1",
          "transcript_support_level": 2,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 143,
          "cds_start": 254,
          "cds_end": null,
          "cds_length": 432,
          "cdna_start": 333,
          "cdna_end": null,
          "cdna_length": 969,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.597C>A",
          "hgvs_p": "p.Gly199Gly",
          "transcript": "ENST00000642243.1",
          "protein_id": "ENSP00000494960.1",
          "transcript_support_level": null,
          "aa_start": 199,
          "aa_end": null,
          "aa_length": 320,
          "cds_start": 597,
          "cds_end": null,
          "cds_length": 963,
          "cdna_start": 597,
          "cdna_end": null,
          "cdna_length": 1485,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.498C>A",
          "hgvs_p": "p.Gly166Gly",
          "transcript": "ENST00000644644.1",
          "protein_id": "ENSP00000494305.1",
          "transcript_support_level": null,
          "aa_start": 166,
          "aa_end": null,
          "aa_length": 287,
          "cds_start": 498,
          "cds_end": null,
          "cds_length": 864,
          "cdna_start": 498,
          "cdna_end": null,
          "cdna_length": 2584,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.489C>A",
          "hgvs_p": "p.Gly163Gly",
          "transcript": "NM_001410855.1",
          "protein_id": "NP_001397784.1",
          "transcript_support_level": null,
          "aa_start": 163,
          "aa_end": null,
          "aa_length": 272,
          "cds_start": 489,
          "cds_end": null,
          "cds_length": 819,
          "cdna_start": 605,
          "cdna_end": null,
          "cdna_length": 3981,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.489C>A",
          "hgvs_p": "p.Gly163Gly",
          "transcript": "ENST00000643817.2",
          "protein_id": "ENSP00000495610.2",
          "transcript_support_level": null,
          "aa_start": 163,
          "aa_end": null,
          "aa_length": 272,
          "cds_start": 489,
          "cds_end": null,
          "cds_length": 819,
          "cdna_start": 633,
          "cdna_end": null,
          "cdna_length": 2384,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.408C>A",
          "hgvs_p": "p.Gly136Gly",
          "transcript": "ENST00000686220.1",
          "protein_id": "ENSP00000509904.1",
          "transcript_support_level": null,
          "aa_start": 136,
          "aa_end": null,
          "aa_length": 223,
          "cds_start": 408,
          "cds_end": null,
          "cds_length": 672,
          "cdna_start": 532,
          "cdna_end": null,
          "cdna_length": 2882,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.489C>A",
          "hgvs_p": "p.Gly163Gly",
          "transcript": "NM_001410856.1",
          "protein_id": "NP_001397785.1",
          "transcript_support_level": null,
          "aa_start": 163,
          "aa_end": null,
          "aa_length": 213,
          "cds_start": 489,
          "cds_end": null,
          "cds_length": 642,
          "cdna_start": 605,
          "cdna_end": null,
          "cdna_length": 3865,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.489C>A",
          "hgvs_p": "p.Gly163Gly",
          "transcript": "ENST00000691703.1",
          "protein_id": "ENSP00000508496.1",
          "transcript_support_level": null,
          "aa_start": 163,
          "aa_end": null,
          "aa_length": 213,
          "cds_start": 489,
          "cds_end": null,
          "cds_length": 642,
          "cdna_start": 633,
          "cdna_end": null,
          "cdna_length": 1046,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.510C>A",
          "hgvs_p": "p.Gly170Gly",
          "transcript": "NM_001164730.2",
          "protein_id": "NP_001158202.1",
          "transcript_support_level": null,
          "aa_start": 170,
          "aa_end": null,
          "aa_length": 208,
          "cds_start": 510,
          "cds_end": null,
          "cds_length": 627,
          "cdna_start": 517,
          "cdna_end": null,
          "cdna_length": 3741,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.510C>A",
          "hgvs_p": "p.Gly170Gly",
          "transcript": "ENST00000453231.6",
          "protein_id": "ENSP00000392197.2",
          "transcript_support_level": 2,
          "aa_start": 170,
          "aa_end": null,
          "aa_length": 208,
          "cds_start": 510,
          "cds_end": null,
          "cds_length": 627,
          "cdna_start": 517,
          "cdna_end": null,
          "cdna_length": 940,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.489C>A",
          "hgvs_p": "p.Gly163Gly",
          "transcript": "NM_022912.3",
          "protein_id": "NP_075063.1",
          "transcript_support_level": null,
          "aa_start": 163,
          "aa_end": null,
          "aa_length": 201,
          "cds_start": 489,
          "cds_end": null,
          "cds_length": 606,
          "cdna_start": 605,
          "cdna_end": null,
          "cdna_length": 3829,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.408C>A",
          "hgvs_p": "p.Gly136Gly",
          "transcript": "NM_001164731.2",
          "protein_id": "NP_001158203.1",
          "transcript_support_level": null,
          "aa_start": 136,
          "aa_end": null,
          "aa_length": 174,
          "cds_start": 408,
          "cds_end": null,
          "cds_length": 525,
          "cdna_start": 532,
          "cdna_end": null,
          "cdna_length": 3756,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.408C>A",
          "hgvs_p": "p.Gly136Gly",
          "transcript": "ENST00000535845.6",
          "protein_id": "ENSP00000437567.1",
          "transcript_support_level": 2,
          "aa_start": 136,
          "aa_end": null,
          "aa_length": 174,
          "cds_start": 408,
          "cds_end": null,
          "cds_length": 525,
          "cdna_start": 533,
          "cdna_end": null,
          "cdna_length": 1196,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.339C>A",
          "hgvs_p": "p.Gly113Gly",
          "transcript": "ENST00000692664.1",
          "protein_id": "ENSP00000508656.1",
          "transcript_support_level": null,
          "aa_start": 113,
          "aa_end": null,
          "aa_length": 151,
          "cds_start": 339,
          "cds_end": null,
          "cds_length": 456,
          "cdna_start": 455,
          "cdna_end": null,
          "cdna_length": 2633,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.309C>A",
          "hgvs_p": "p.Gly103Gly",
          "transcript": "ENST00000691093.1",
          "protein_id": "ENSP00000509465.1",
          "transcript_support_level": null,
          "aa_start": 103,
          "aa_end": null,
          "aa_length": 141,
          "cds_start": 309,
          "cds_end": null,
          "cds_length": 426,
          "cdna_start": 534,
          "cdna_end": null,
          "cdna_length": 2712,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.177C>A",
          "hgvs_p": "p.Gly59Gly",
          "transcript": "ENST00000688400.1",
          "protein_id": "ENSP00000510490.1",
          "transcript_support_level": null,
          "aa_start": 59,
          "aa_end": null,
          "aa_length": 97,
          "cds_start": 177,
          "cds_end": null,
          "cds_length": 294,
          "cdna_start": 177,
          "cdna_end": null,
          "cdna_length": 2330,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.510C>A",
          "hgvs_p": "p.Gly170Gly",
          "transcript": "XM_017004725.2",
          "protein_id": "XP_016860214.1",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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      "custom_annotations": null
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  "message": null
}