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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: 12-885872-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=885872&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 885872,
      "ref": "C",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000315939.11",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.5824C>A",
          "hgvs_p": "p.Pro1942Thr",
          "transcript": "NM_213655.5",
          "protein_id": "NP_998820.3",
          "transcript_support_level": null,
          "aa_start": 1942,
          "aa_end": null,
          "aa_length": 2634,
          "cds_start": 5824,
          "cds_end": null,
          "cds_length": 7905,
          "cdna_start": 6811,
          "cdna_end": null,
          "cdna_length": 11552,
          "mane_select": null,
          "mane_plus": "ENST00000340908.9",
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.5824C>A",
          "hgvs_p": "p.Pro1942Thr",
          "transcript": "ENST00000340908.9",
          "protein_id": "ENSP00000341292.5",
          "transcript_support_level": 5,
          "aa_start": 1942,
          "aa_end": null,
          "aa_length": 2634,
          "cds_start": 5824,
          "cds_end": null,
          "cds_length": 7905,
          "cdna_start": 6811,
          "cdna_end": null,
          "cdna_length": 11552,
          "mane_select": null,
          "mane_plus": "NM_213655.5",
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.5068C>A",
          "hgvs_p": "p.Pro1690Thr",
          "transcript": "NM_018979.4",
          "protein_id": "NP_061852.3",
          "transcript_support_level": null,
          "aa_start": 1690,
          "aa_end": null,
          "aa_length": 2382,
          "cds_start": 5068,
          "cds_end": null,
          "cds_length": 7149,
          "cdna_start": 6055,
          "cdna_end": null,
          "cdna_length": 10796,
          "mane_select": "ENST00000315939.11",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.5068C>A",
          "hgvs_p": "p.Pro1690Thr",
          "transcript": "ENST00000315939.11",
          "protein_id": "ENSP00000313059.6",
          "transcript_support_level": 1,
          "aa_start": 1690,
          "aa_end": null,
          "aa_length": 2382,
          "cds_start": 5068,
          "cds_end": null,
          "cds_length": 7149,
          "cdna_start": 6055,
          "cdna_end": null,
          "cdna_length": 10796,
          "mane_select": "NM_018979.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.6307C>A",
          "hgvs_p": "p.Pro2103Thr",
          "transcript": "ENST00000530271.6",
          "protein_id": "ENSP00000433548.3",
          "transcript_support_level": 1,
          "aa_start": 2103,
          "aa_end": null,
          "aa_length": 2833,
          "cds_start": 6307,
          "cds_end": null,
          "cds_length": 8502,
          "cdna_start": 6950,
          "cdna_end": null,
          "cdna_length": 11804,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.4327C>A",
          "hgvs_p": "p.Pro1443Thr",
          "transcript": "ENST00000535572.5",
          "protein_id": "ENSP00000441972.1",
          "transcript_support_level": 1,
          "aa_start": 1443,
          "aa_end": null,
          "aa_length": 2134,
          "cds_start": 4327,
          "cds_end": null,
          "cds_length": 6405,
          "cdna_start": 5300,
          "cdna_end": null,
          "cdna_length": 9886,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.5848C>A",
          "hgvs_p": "p.Pro1950Thr",
          "transcript": "NM_001184985.2",
          "protein_id": "NP_001171914.1",
          "transcript_support_level": null,
          "aa_start": 1950,
          "aa_end": null,
          "aa_length": 2642,
          "cds_start": 5848,
          "cds_end": null,
          "cds_length": 7929,
          "cdna_start": 6835,
          "cdna_end": null,
          "cdna_length": 11576,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.5848C>A",
          "hgvs_p": "p.Pro1950Thr",
          "transcript": "ENST00000537687.5",
          "protein_id": "ENSP00000444465.1",
          "transcript_support_level": 5,
          "aa_start": 1950,
          "aa_end": null,
          "aa_length": 2642,
          "cds_start": 5848,
          "cds_end": null,
          "cds_length": 7929,
          "cdna_start": 6491,
          "cdna_end": null,
          "cdna_length": 11232,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.4327C>A",
          "hgvs_p": "p.Pro1443Thr",
          "transcript": "NM_014823.3",
          "protein_id": "NP_055638.2",
          "transcript_support_level": null,
          "aa_start": 1443,
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          "aa_length": 2134,
          "cds_start": 4327,
          "cds_end": null,
          "cds_length": 6405,
          "cdna_start": 5314,
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          "cdna_length": 10052,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.3847C>A",
          "hgvs_p": "p.Pro1283Thr",
          "transcript": "ENST00000675631.1",
          "protein_id": "ENSP00000502415.1",
          "transcript_support_level": null,
          "aa_start": 1283,
          "aa_end": null,
          "aa_length": 1975,
          "cds_start": 3847,
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          "cdna_start": 4116,
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        {
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          "strand": true,
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          "intron_rank": null,
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          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.2515C>A",
          "hgvs_p": "p.Pro839Thr",
          "transcript": "ENST00000676347.1",
          "protein_id": "ENSP00000501875.1",
          "transcript_support_level": null,
          "aa_start": 839,
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          "aa_length": 1531,
          "cds_start": 2515,
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        {
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          "intron_rank": null,
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          "gene_symbol": "WNK1",
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        {
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          "intron_rank": null,
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          "gene_symbol": "WNK1",
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          "hgvs_c": "c.6304C>A",
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        {
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          "gene_symbol": "WNK1",
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          "transcript": "XM_011520999.3",
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        {
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        {
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          "gene_symbol": "WNK1",
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          "transcript": "XM_047429374.1",
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        {
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          "transcript": "XM_011521001.3",
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        {
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          "intron_rank": null,
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          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.5848C>A",
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        {
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          ],
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