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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: 9-93301408-T-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=93301408&ref=T&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 93301408,
      "ref": "T",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000427277.7",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": 26,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.6214+1259T>G",
          "hgvs_p": null,
          "transcript": "NM_006648.4",
          "protein_id": "NP_006639.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2217,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6654,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7080,
          "mane_select": "ENST00000427277.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": 26,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.6214+1259T>G",
          "hgvs_p": null,
          "transcript": "ENST00000427277.7",
          "protein_id": "ENSP00000411181.4",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2217,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6654,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7080,
          "mane_select": "NM_006648.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.6325+1259T>G",
          "hgvs_p": null,
          "transcript": "ENST00000297954.9",
          "protein_id": "ENSP00000297954.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2297,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6894,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8338,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": 25,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.6214+1259T>G",
          "hgvs_p": null,
          "transcript": "ENST00000432730.6",
          "protein_id": "ENSP00000415038.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2224,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6675,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7805,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.4732+3341T>G",
          "hgvs_p": null,
          "transcript": "ENST00000411624.5",
          "protein_id": "ENSP00000414622.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1772,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5319,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6679,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.6325+1259T>G",
          "hgvs_p": null,
          "transcript": "NM_001282394.3",
          "protein_id": "NP_001269323.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2297,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6894,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8324,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": 25,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.6214+1259T>G",
          "hgvs_p": null,
          "transcript": "ENST00000395477.6",
          "protein_id": "ENSP00000378860.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2217,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6654,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6834,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.1678+2147T>G",
          "hgvs_p": null,
          "transcript": "ENST00000453718.2",
          "protein_id": "ENSP00000413325.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 644,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1935,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1937,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": 26,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.6214+1259T>G",
          "hgvs_p": null,
          "transcript": "XM_005252137.4",
          "protein_id": "XP_005252194.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 2260,
          "cds_start": -4,
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          "cds_length": 6783,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          "exon_rank": null,
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          "exon_count": 30,
          "intron_rank": 26,
          "intron_rank_end": null,
          "gene_symbol": "WNK2",
          "gene_hgnc_id": 14542,
          "hgvs_c": "c.6211+1259T>G",
          "hgvs_p": null,
          "transcript": "XM_017015045.2",
          "protein_id": "XP_016870534.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "gene_symbol": "WNK2",
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          "cdna_start": null,
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        {
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