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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: 2-86217057-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=86217057&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 86217057,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "ENST00000538924.7",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.837G>A",
          "hgvs_p": "p.Ser279Ser",
          "transcript": "NM_001371279.1",
          "protein_id": "NP_001358208.1",
          "transcript_support_level": null,
          "aa_start": 279,
          "aa_end": null,
          "aa_length": 284,
          "cds_start": 837,
          "cds_end": null,
          "cds_length": 855,
          "cdna_start": 953,
          "cdna_end": null,
          "cdna_length": 4017,
          "mane_select": "ENST00000538924.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.837G>A",
          "hgvs_p": "p.Ser279Ser",
          "transcript": "ENST00000538924.7",
          "protein_id": "ENSP00000438346.3",
          "transcript_support_level": 5,
          "aa_start": 279,
          "aa_end": null,
          "aa_length": 284,
          "cds_start": 837,
          "cds_end": null,
          "cds_length": 855,
          "cdna_start": 953,
          "cdna_end": null,
          "cdna_length": 4017,
          "mane_select": "NM_001371279.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.*43G>A",
          "hgvs_p": null,
          "transcript": "ENST00000165698.9",
          "protein_id": "ENSP00000165698.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 201,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 606,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3857,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.945G>A",
          "hgvs_p": "p.Ser315Ser",
          "transcript": "ENST00000642243.1",
          "protein_id": "ENSP00000494960.1",
          "transcript_support_level": null,
          "aa_start": 315,
          "aa_end": null,
          "aa_length": 320,
          "cds_start": 945,
          "cds_end": null,
          "cds_length": 963,
          "cdna_start": 945,
          "cdna_end": null,
          "cdna_length": 1485,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.846G>A",
          "hgvs_p": "p.Ser282Ser",
          "transcript": "ENST00000644644.1",
          "protein_id": "ENSP00000494305.1",
          "transcript_support_level": null,
          "aa_start": 282,
          "aa_end": null,
          "aa_length": 287,
          "cds_start": 846,
          "cds_end": null,
          "cds_length": 864,
          "cdna_start": 846,
          "cdna_end": null,
          "cdna_length": 2584,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.801G>A",
          "hgvs_p": "p.Ser267Ser",
          "transcript": "NM_001410855.1",
          "protein_id": "NP_001397784.1",
          "transcript_support_level": null,
          "aa_start": 267,
          "aa_end": null,
          "aa_length": 272,
          "cds_start": 801,
          "cds_end": null,
          "cds_length": 819,
          "cdna_start": 917,
          "cdna_end": null,
          "cdna_length": 3981,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.801G>A",
          "hgvs_p": "p.Ser267Ser",
          "transcript": "ENST00000643817.2",
          "protein_id": "ENSP00000495610.2",
          "transcript_support_level": null,
          "aa_start": 267,
          "aa_end": null,
          "aa_length": 272,
          "cds_start": 801,
          "cds_end": null,
          "cds_length": 819,
          "cdna_start": 945,
          "cdna_end": null,
          "cdna_length": 2384,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.471G>A",
          "hgvs_p": "p.Ser157Ser",
          "transcript": "NM_001371280.1",
          "protein_id": "NP_001358209.1",
          "transcript_support_level": null,
          "aa_start": 157,
          "aa_end": null,
          "aa_length": 162,
          "cds_start": 471,
          "cds_end": null,
          "cds_length": 489,
          "cdna_start": 587,
          "cdna_end": null,
          "cdna_length": 3651,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.471G>A",
          "hgvs_p": "p.Ser157Ser",
          "transcript": "ENST00000689156.1",
          "protein_id": "ENSP00000509143.1",
          "transcript_support_level": null,
          "aa_start": 157,
          "aa_end": null,
          "aa_length": 162,
          "cds_start": 471,
          "cds_end": null,
          "cds_length": 489,
          "cdna_start": 605,
          "cdna_end": null,
          "cdna_length": 2566,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.414G>A",
          "hgvs_p": "p.Ser138Ser",
          "transcript": "NM_001164732.2",
          "protein_id": "NP_001158204.1",
          "transcript_support_level": null,
          "aa_start": 138,
          "aa_end": null,
          "aa_length": 143,
          "cds_start": 414,
          "cds_end": null,
          "cds_length": 432,
          "cdna_start": 530,
          "cdna_end": null,
          "cdna_length": 3594,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.414G>A",
          "hgvs_p": "p.Ser138Ser",
          "transcript": "ENST00000541910.6",
          "protein_id": "ENSP00000442681.1",
          "transcript_support_level": 2,
          "aa_start": 138,
          "aa_end": null,
          "aa_length": 143,
          "cds_start": 414,
          "cds_end": null,
          "cds_length": 432,
          "cdna_start": 493,
          "cdna_end": null,
          "cdna_length": 969,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.822G>A",
          "hgvs_p": "p.Ser274Ser",
          "transcript": "XM_017004725.2",
          "protein_id": "XP_016860214.1",
          "transcript_support_level": null,
          "aa_start": 274,
          "aa_end": null,
          "aa_length": 279,
          "cds_start": 822,
          "cds_end": null,
          "cds_length": 840,
          "cdna_start": 1181,
          "cdna_end": null,
          "cdna_length": 4245,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.819G>A",
          "hgvs_p": "p.Ser273Ser",
          "transcript": "XM_011533044.2",
          "protein_id": "XP_011531346.1",
          "transcript_support_level": null,
          "aa_start": 273,
          "aa_end": null,
          "aa_length": 278,
          "cds_start": 819,
          "cds_end": null,
          "cds_length": 837,
          "cdna_start": 844,
          "cdna_end": null,
          "cdna_length": 3908,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.813G>A",
          "hgvs_p": "p.Ser271Ser",
          "transcript": "XM_011533045.2",
          "protein_id": "XP_011531347.1",
          "transcript_support_level": null,
          "aa_start": 271,
          "aa_end": null,
          "aa_length": 276,
          "cds_start": 813,
          "cds_end": null,
          "cds_length": 831,
          "cdna_start": 828,
          "cdna_end": null,
          "cdna_length": 3892,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.723G>A",
          "hgvs_p": "p.Ser241Ser",
          "transcript": "XM_005264504.2",
          "protein_id": "XP_005264561.1",
          "transcript_support_level": null,
          "aa_start": 241,
          "aa_end": null,
          "aa_length": 246,
          "cds_start": 723,
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          "cds_length": 741,
          "cdna_start": 824,
          "cdna_end": null,
          "cdna_length": 3888,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.723G>A",
          "hgvs_p": "p.Ser241Ser",
          "transcript": "XM_047445537.1",
          "protein_id": "XP_047301493.1",
          "transcript_support_level": null,
          "aa_start": 241,
          "aa_end": null,
          "aa_length": 246,
          "cds_start": 723,
          "cds_end": null,
          "cds_length": 741,
          "cdna_start": 949,
          "cdna_end": null,
          "cdna_length": 4013,
          "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": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "n.522G>A",
          "hgvs_p": null,
          "transcript": "ENST00000646181.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 3328,
          "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": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "n.179G>A",
          "hgvs_p": null,
          "transcript": "ENST00000687696.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2140,
          "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": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "n.1115G>A",
          "hgvs_p": null,
          "transcript": "ENST00000687927.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 3115,
          "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": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "n.*123G>A",
          "hgvs_p": null,
          "transcript": "ENST00000693329.1",
          "protein_id": "ENSP00000508490.1",
          "transcript_support_level": null,
          "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": 2888,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "REEP1",
          "gene_hgnc_id": 25786,
          "hgvs_c": "c.*97G>A",
          "hgvs_p": null,
          "transcript": "ENST00000686220.1",
          "protein_id": "ENSP00000509904.1",
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