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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: 10-73851332-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=73851332&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 73851332,
      "ref": "G",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_001320898.2",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2G",
          "gene_hgnc_id": 1463,
          "hgvs_c": "c.341+922C>G",
          "hgvs_p": null,
          "transcript": "NM_001367534.1",
          "protein_id": "NP_001354463.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 588,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1767,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000423381.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001367534.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2G",
          "gene_hgnc_id": 1463,
          "hgvs_c": "c.341+922C>G",
          "hgvs_p": null,
          "transcript": "ENST00000423381.6",
          "protein_id": "ENSP00000410298.3",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 588,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1767,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001367534.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000423381.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2G",
          "gene_hgnc_id": 1463,
          "hgvs_c": "c.341+922C>G",
          "hgvs_p": null,
          "transcript": "ENST00000322635.7",
          "protein_id": "ENSP00000315599.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 527,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1584,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000322635.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2G",
          "gene_hgnc_id": 1463,
          "hgvs_c": "c.146+922C>G",
          "hgvs_p": null,
          "transcript": "ENST00000433289.5",
          "protein_id": "ENSP00000393784.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 453,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1362,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000433289.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2G",
          "gene_hgnc_id": 1463,
          "hgvs_c": "c.-413+922C>G",
          "hgvs_p": null,
          "transcript": "ENST00000394762.7",
          "protein_id": "ENSP00000378243.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 288,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 867,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000394762.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2G",
          "gene_hgnc_id": 1463,
          "hgvs_c": "c.341+922C>G",
          "hgvs_p": null,
          "transcript": "NM_001320898.2",
          "protein_id": "NP_001307827.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 592,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1779,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001320898.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2G",
          "gene_hgnc_id": 1463,
          "hgvs_c": "c.341+922C>G",
          "hgvs_p": null,
          "transcript": "ENST00000441192.2",
          "protein_id": "ENSP00000405561.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 588,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1767,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000441192.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2G",
          "gene_hgnc_id": 1463,
          "hgvs_c": "c.341+922C>G",
          "hgvs_p": null,
          "transcript": "NM_001367544.1",
          "protein_id": "NP_001354473.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 577,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1734,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001367544.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 22,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "CAMK2G",
          "gene_hgnc_id": 1463,
          "hgvs_c": "c.341+922C>G",
          "hgvs_p": null,
          "transcript": "ENST00000864120.1",
          "protein_id": "ENSP00000534179.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 577,
          "cds_start": null,
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          "cds_length": 1734,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000864120.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 21,
          "intron_rank": 5,
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          "gene_symbol": "CAMK2G",
          "gene_hgnc_id": 1463,
          "hgvs_c": "c.341+922C>G",
          "hgvs_p": null,
          "transcript": "ENST00000864141.1",
          "protein_id": "ENSP00000534200.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": null,
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        {
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          "intron_rank": 5,
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          "gene_symbol": "CAMK2G",
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          "hgvs_c": "c.341+922C>G",
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          "transcript": "ENST00000964836.1",
          "protein_id": "ENSP00000634895.1",
          "transcript_support_level": null,
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          "aa_length": 577,
          "cds_start": null,
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        {
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      "computational_prediction_selected": "Benign",
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      "splice_prediction_selected": "Benign",
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          "transcript": "NM_001320898.2",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
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      "custom_annotations": null
    }
  ],
  "message": null
}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.