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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: 9-93308387-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=93308387&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 93308387,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000427277.7",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.6319G>A",
          "hgvs_p": "p.Val2107Ile",
          "transcript": "NM_006648.4",
          "protein_id": "NP_006639.3",
          "transcript_support_level": null,
          "aa_start": 2107,
          "aa_end": null,
          "aa_length": 2217,
          "cds_start": 6319,
          "cds_end": null,
          "cds_length": 6654,
          "cdna_start": 6568,
          "cdna_end": null,
          "cdna_length": 7080,
          "mane_select": "ENST00000427277.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.6319G>A",
          "hgvs_p": "p.Val2107Ile",
          "transcript": "ENST00000427277.7",
          "protein_id": "ENSP00000411181.4",
          "transcript_support_level": 5,
          "aa_start": 2107,
          "aa_end": null,
          "aa_length": 2217,
          "cds_start": 6319,
          "cds_end": null,
          "cds_length": 6654,
          "cdna_start": 6568,
          "cdna_end": null,
          "cdna_length": 7080,
          "mane_select": "NM_006648.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.6430G>A",
          "hgvs_p": "p.Val2144Ile",
          "transcript": "ENST00000297954.9",
          "protein_id": "ENSP00000297954.4",
          "transcript_support_level": 1,
          "aa_start": 2144,
          "aa_end": null,
          "aa_length": 2297,
          "cds_start": 6430,
          "cds_end": null,
          "cds_length": 6894,
          "cdna_start": 6696,
          "cdna_end": null,
          "cdna_length": 8338,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.6319G>A",
          "hgvs_p": "p.Val2107Ile",
          "transcript": "ENST00000432730.6",
          "protein_id": "ENSP00000415038.2",
          "transcript_support_level": 1,
          "aa_start": 2107,
          "aa_end": null,
          "aa_length": 2224,
          "cds_start": 6319,
          "cds_end": null,
          "cds_length": 6675,
          "cdna_start": 6319,
          "cdna_end": null,
          "cdna_length": 7805,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.4792G>A",
          "hgvs_p": "p.Val1598Ile",
          "transcript": "ENST00000411624.5",
          "protein_id": "ENSP00000414622.1",
          "transcript_support_level": 1,
          "aa_start": 1598,
          "aa_end": null,
          "aa_length": 1772,
          "cds_start": 4792,
          "cds_end": null,
          "cds_length": 5319,
          "cdna_start": 4793,
          "cdna_end": null,
          "cdna_length": 6679,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.6430G>A",
          "hgvs_p": "p.Val2144Ile",
          "transcript": "NM_001282394.3",
          "protein_id": "NP_001269323.1",
          "transcript_support_level": null,
          "aa_start": 2144,
          "aa_end": null,
          "aa_length": 2297,
          "cds_start": 6430,
          "cds_end": null,
          "cds_length": 6894,
          "cdna_start": 6679,
          "cdna_end": null,
          "cdna_length": 8324,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.6319G>A",
          "hgvs_p": "p.Val2107Ile",
          "transcript": "ENST00000395477.6",
          "protein_id": "ENSP00000378860.2",
          "transcript_support_level": 5,
          "aa_start": 2107,
          "aa_end": null,
          "aa_length": 2217,
          "cds_start": 6319,
          "cds_end": null,
          "cds_length": 6654,
          "cdna_start": 6319,
          "cdna_end": null,
          "cdna_length": 6834,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.1738G>A",
          "hgvs_p": "p.Val580Ile",
          "transcript": "ENST00000453718.2",
          "protein_id": "ENSP00000413325.1",
          "transcript_support_level": 5,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 644,
          "cds_start": 1738,
          "cds_end": null,
          "cds_length": 1935,
          "cdna_start": 1740,
          "cdna_end": null,
          "cdna_length": 1937,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.6319G>A",
          "hgvs_p": "p.Val2107Ile",
          "transcript": "XM_005252137.4",
          "protein_id": "XP_005252194.1",
          "transcript_support_level": null,
          "aa_start": 2107,
          "aa_end": null,
          "aa_length": 2260,
          "cds_start": 6319,
          "cds_end": null,
          "cds_length": 6783,
          "cdna_start": 6568,
          "cdna_end": null,
          "cdna_length": 8213,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.6316G>A",
          "hgvs_p": "p.Val2106Ile",
          "transcript": "XM_017015045.2",
          "protein_id": "XP_016870534.1",
          "transcript_support_level": null,
          "aa_start": 2106,
          "aa_end": null,
          "aa_length": 2259,
          "cds_start": 6316,
          "cds_end": null,
          "cds_length": 6780,
          "cdna_start": 6565,
          "cdna_end": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
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          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.6265G>A",
          "hgvs_p": "p.Val2089Ile",
          "transcript": "XM_017015047.2",
          "protein_id": "XP_016870536.1",
          "transcript_support_level": null,
          "aa_start": 2089,
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          "aa_length": 2242,
          "cds_start": 6265,
          "cds_end": null,
          "cds_length": 6729,
          "cdna_start": 6514,
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          "mane_select": null,
          "mane_plus": null,
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          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
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          "gene_symbol": "WNK2",
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          "hgvs_c": "c.6262G>A",
          "hgvs_p": "p.Val2088Ile",
          "transcript": "XM_017015048.2",
          "protein_id": "XP_016870537.1",
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          "aa_length": 2241,
          "cds_start": 6262,
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          "cdna_start": 6511,
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        },
        {
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          "intron_rank": null,
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          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.6220G>A",
          "hgvs_p": "p.Val2074Ile",
          "transcript": "XM_017015049.2",
          "protein_id": "XP_016870538.1",
          "transcript_support_level": null,
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        {
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          "exon_count": 29,
          "intron_rank": null,
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          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.6217G>A",
          "hgvs_p": "p.Val2073Ile",
          "transcript": "XM_017015050.2",
          "protein_id": "XP_016870539.1",
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        {
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        {
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          "intron_rank": null,
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          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.6316G>A",
          "hgvs_p": "p.Val2106Ile",
          "transcript": "XM_047423741.1",
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        {
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          "hgvs_c": "c.6184G>A",
          "hgvs_p": "p.Val2062Ile",
          "transcript": "XM_017015051.2",
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        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
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          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.6166G>A",
          "hgvs_p": "p.Val2056Ile",
          "transcript": "XM_017015052.2",
          "protein_id": "XP_016870541.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 2209,
          "cds_start": 6166,
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          "cds_length": 6630,
          "cdna_start": 6415,
          "cdna_end": null,
          "cdna_length": 8060,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
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