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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: 21-41866243-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=41866243&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "21",
      "pos": 41866243,
      "ref": "C",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "NM_022115.7",
      "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": 24,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PRDM15",
          "gene_hgnc_id": 13999,
          "hgvs_c": "c.-9-5871G>C",
          "hgvs_p": null,
          "transcript": "NM_001040424.3",
          "protein_id": "NP_001035514.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1141,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3426,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000398548.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001040424.3"
        },
        {
          "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": 24,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PRDM15",
          "gene_hgnc_id": 13999,
          "hgvs_c": "c.-9-5871G>C",
          "hgvs_p": null,
          "transcript": "ENST00000398548.6",
          "protein_id": "ENSP00000381556.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1141,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3426,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001040424.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000398548.6"
        },
        {
          "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": 31,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "PRDM15",
          "gene_hgnc_id": 13999,
          "hgvs_c": "c.-282+1057G>C",
          "hgvs_p": null,
          "transcript": "ENST00000269844.5",
          "protein_id": "ENSP00000269844.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1207,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3624,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000269844.5"
        },
        {
          "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": 25,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PRDM15",
          "gene_hgnc_id": 13999,
          "hgvs_c": "c.-9-5871G>C",
          "hgvs_p": null,
          "transcript": "ENST00000422911.6",
          "protein_id": "ENSP00000408592.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1161,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3486,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000422911.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PRDM15",
          "gene_hgnc_id": 13999,
          "hgvs_c": "n.-9-5871G>C",
          "hgvs_p": null,
          "transcript": "ENST00000441787.5",
          "protein_id": "ENSP00000387958.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000441787.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PRDM15",
          "gene_hgnc_id": 13999,
          "hgvs_c": "n.-9-5871G>C",
          "hgvs_p": null,
          "transcript": "ENST00000449395.6",
          "protein_id": "ENSP00000396943.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000449395.6"
        },
        {
          "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": 31,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "PRDM15",
          "gene_hgnc_id": 13999,
          "hgvs_c": "c.-282+1057G>C",
          "hgvs_p": null,
          "transcript": "NM_022115.7",
          "protein_id": "NP_071398.5",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1207,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3624,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_022115.7"
        },
        {
          "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": 25,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PRDM15",
          "gene_hgnc_id": 13999,
          "hgvs_c": "c.-9-5871G>C",
          "hgvs_p": null,
          "transcript": "NM_001282934.2",
          "protein_id": "NP_001269863.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1161,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3486,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001282934.2"
        },
        {
          "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": 25,
          "intron_rank": 1,
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          "gene_symbol": "PRDM15",
          "gene_hgnc_id": 13999,
          "hgvs_c": "c.-9-5871G>C",
          "hgvs_p": null,
          "transcript": "ENST00000927550.1",
          "protein_id": "ENSP00000597609.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": null,
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          "cds_length": 3486,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
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        },
        {
          "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": 30,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "PRDM15",
          "gene_hgnc_id": 13999,
          "hgvs_c": "c.268+1057G>C",
          "hgvs_p": null,
          "transcript": "XM_011529683.2",
          "protein_id": "XP_011527985.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1324,
          "cds_start": null,
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          "cds_length": 3975,
          "cdna_start": null,
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        {
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          "gene_symbol": "PRDM15",
          "gene_hgnc_id": 13999,
          "hgvs_c": "c.4-5871G>C",
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          "transcript": "XM_011529681.4",
          "protein_id": "XP_011527983.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 1165,
          "cds_start": null,
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          "cdna_start": null,
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        {
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        {
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          "gene_symbol": "PRDM15",
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          "gene_symbol": "PRDM15",
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      "acmg_classification": "Benign",
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          "verdict": "Benign",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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  ],
  "message": null
}