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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: 12-897548-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=897548&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 897548,
      "ref": "G",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "ENST00000315939.11",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.7071G>C",
          "hgvs_p": "p.Leu2357Leu",
          "transcript": "NM_213655.5",
          "protein_id": "NP_998820.3",
          "transcript_support_level": null,
          "aa_start": 2357,
          "aa_end": null,
          "aa_length": 2634,
          "cds_start": 7071,
          "cds_end": null,
          "cds_length": 7905,
          "cdna_start": 8058,
          "cdna_end": null,
          "cdna_length": 11552,
          "mane_select": null,
          "mane_plus": "ENST00000340908.9",
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.7071G>C",
          "hgvs_p": "p.Leu2357Leu",
          "transcript": "ENST00000340908.9",
          "protein_id": "ENSP00000341292.5",
          "transcript_support_level": 5,
          "aa_start": 2357,
          "aa_end": null,
          "aa_length": 2634,
          "cds_start": 7071,
          "cds_end": null,
          "cds_length": 7905,
          "cdna_start": 8058,
          "cdna_end": null,
          "cdna_length": 11552,
          "mane_select": null,
          "mane_plus": "NM_213655.5",
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.6315G>C",
          "hgvs_p": "p.Leu2105Leu",
          "transcript": "NM_018979.4",
          "protein_id": "NP_061852.3",
          "transcript_support_level": null,
          "aa_start": 2105,
          "aa_end": null,
          "aa_length": 2382,
          "cds_start": 6315,
          "cds_end": null,
          "cds_length": 7149,
          "cdna_start": 7302,
          "cdna_end": null,
          "cdna_length": 10796,
          "mane_select": "ENST00000315939.11",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.6315G>C",
          "hgvs_p": "p.Leu2105Leu",
          "transcript": "ENST00000315939.11",
          "protein_id": "ENSP00000313059.6",
          "transcript_support_level": 1,
          "aa_start": 2105,
          "aa_end": null,
          "aa_length": 2382,
          "cds_start": 6315,
          "cds_end": null,
          "cds_length": 7149,
          "cdna_start": 7302,
          "cdna_end": null,
          "cdna_length": 10796,
          "mane_select": "NM_018979.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.7554G>C",
          "hgvs_p": "p.Leu2518Leu",
          "transcript": "ENST00000530271.6",
          "protein_id": "ENSP00000433548.3",
          "transcript_support_level": 1,
          "aa_start": 2518,
          "aa_end": null,
          "aa_length": 2833,
          "cds_start": 7554,
          "cds_end": null,
          "cds_length": 8502,
          "cdna_start": 8197,
          "cdna_end": null,
          "cdna_length": 11804,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.5571G>C",
          "hgvs_p": "p.Leu1857Leu",
          "transcript": "ENST00000535572.5",
          "protein_id": "ENSP00000441972.1",
          "transcript_support_level": 1,
          "aa_start": 1857,
          "aa_end": null,
          "aa_length": 2134,
          "cds_start": 5571,
          "cds_end": null,
          "cds_length": 6405,
          "cdna_start": 6544,
          "cdna_end": null,
          "cdna_length": 9886,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.7095G>C",
          "hgvs_p": "p.Leu2365Leu",
          "transcript": "NM_001184985.2",
          "protein_id": "NP_001171914.1",
          "transcript_support_level": null,
          "aa_start": 2365,
          "aa_end": null,
          "aa_length": 2642,
          "cds_start": 7095,
          "cds_end": null,
          "cds_length": 7929,
          "cdna_start": 8082,
          "cdna_end": null,
          "cdna_length": 11576,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.7095G>C",
          "hgvs_p": "p.Leu2365Leu",
          "transcript": "ENST00000537687.5",
          "protein_id": "ENSP00000444465.1",
          "transcript_support_level": 5,
          "aa_start": 2365,
          "aa_end": null,
          "aa_length": 2642,
          "cds_start": 7095,
          "cds_end": null,
          "cds_length": 7929,
          "cdna_start": 7738,
          "cdna_end": null,
          "cdna_length": 11232,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.5571G>C",
          "hgvs_p": "p.Leu1857Leu",
          "transcript": "NM_014823.3",
          "protein_id": "NP_055638.2",
          "transcript_support_level": null,
          "aa_start": 1857,
          "aa_end": null,
          "aa_length": 2134,
          "cds_start": 5571,
          "cds_end": null,
          "cds_length": 6405,
          "cdna_start": 6558,
          "cdna_end": null,
          "cdna_length": 10052,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.5094G>C",
          "hgvs_p": "p.Leu1698Leu",
          "transcript": "ENST00000675631.1",
          "protein_id": "ENSP00000502415.1",
          "transcript_support_level": null,
          "aa_start": 1698,
          "aa_end": null,
          "aa_length": 1975,
          "cds_start": 5094,
          "cds_end": null,
          "cds_length": 5928,
          "cdna_start": 5363,
          "cdna_end": null,
          "cdna_length": 8857,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.3762G>C",
          "hgvs_p": "p.Leu1254Leu",
          "transcript": "ENST00000676347.1",
          "protein_id": "ENSP00000501875.1",
          "transcript_support_level": null,
          "aa_start": 1254,
          "aa_end": null,
          "aa_length": 1531,
          "cds_start": 3762,
          "cds_end": null,
          "cds_length": 4596,
          "cdna_start": 3762,
          "cdna_end": null,
          "cdna_length": 4596,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.7554G>C",
          "hgvs_p": "p.Leu2518Leu",
          "transcript": "XM_011520997.4",
          "protein_id": "XP_011519299.1",
          "transcript_support_level": null,
          "aa_start": 2518,
          "aa_end": null,
          "aa_length": 2795,
          "cds_start": 7554,
          "cds_end": null,
          "cds_length": 8388,
          "cdna_start": 8541,
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          "cdna_length": 12035,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.7551G>C",
          "hgvs_p": "p.Leu2517Leu",
          "transcript": "XM_011520998.3",
          "protein_id": "XP_011519300.1",
          "transcript_support_level": null,
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          "aa_length": 2794,
          "cds_start": 7551,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.7551G>C",
          "hgvs_p": "p.Leu2517Leu",
          "transcript": "XM_011520999.3",
          "protein_id": "XP_011519301.1",
          "transcript_support_level": null,
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          "mane_select": null,
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        },
        {
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          "gene_symbol": "WNK1",
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          "hgvs_c": "c.7554G>C",
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          "transcript": "XM_011521000.3",
          "protein_id": "XP_011519302.1",
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.7551G>C",
          "hgvs_p": "p.Leu2517Leu",
          "transcript": "XM_047429374.1",
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          "transcript_support_level": null,
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          "cdna_start": 8538,
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          "mane_select": null,
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        },
        {
          "aa_ref": "L",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 25,
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          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.7275G>C",
          "hgvs_p": "p.Leu2425Leu",
          "transcript": "XM_011521001.3",
          "protein_id": "XP_011519303.1",
          "transcript_support_level": null,
          "aa_start": 2425,
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          "aa_length": 2702,
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        },
        {
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 25,
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          "intron_rank": null,
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          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.7272G>C",
          "hgvs_p": "p.Leu2424Leu",
          "transcript": "XM_047429375.1",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.7092G>C",
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          "transcript": "XM_011521002.3",
          "protein_id": "XP_011519304.1",
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        },
        {
          "aa_ref": "L",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
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          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK1",
          "gene_hgnc_id": 14540,
          "hgvs_c": "c.7092G>C",
          "hgvs_p": "p.Leu2364Leu",
          "transcript": "XM_047429376.1",
          "protein_id": "XP_047285332.1",
          "transcript_support_level": null,
          "aa_start": 2364,
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          "cds_start": 7092,
          "cds_end": null,
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          "mane_select": null,
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          "biotype": null,
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        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
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      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
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}