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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: 2-29160508-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=29160508&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 29160508,
      "ref": "G",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000320081.10",
      "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": 16,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "CLIP4",
          "gene_hgnc_id": 26108,
          "hgvs_c": "c.1534+41G>C",
          "hgvs_p": null,
          "transcript": "NM_024692.6",
          "protein_id": "NP_078968.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 705,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2118,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4299,
          "mane_select": "ENST00000320081.10",
          "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": 16,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "CLIP4",
          "gene_hgnc_id": 26108,
          "hgvs_c": "c.1534+41G>C",
          "hgvs_p": null,
          "transcript": "ENST00000320081.10",
          "protein_id": "ENSP00000327009.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 705,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2118,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4299,
          "mane_select": "NM_024692.6",
          "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": 16,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "CLIP4",
          "gene_hgnc_id": 26108,
          "hgvs_c": "c.1555+41G>C",
          "hgvs_p": null,
          "transcript": "ENST00000687506.1",
          "protein_id": "ENSP00000509486.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 712,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2139,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4230,
          "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": 16,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "CLIP4",
          "gene_hgnc_id": 26108,
          "hgvs_c": "c.1534+41G>C",
          "hgvs_p": null,
          "transcript": "NM_001287527.2",
          "protein_id": "NP_001274456.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 705,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2118,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4295,
          "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": 16,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "CLIP4",
          "gene_hgnc_id": 26108,
          "hgvs_c": "c.1534+41G>C",
          "hgvs_p": null,
          "transcript": "ENST00000404424.5",
          "protein_id": "ENSP00000385594.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 705,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2118,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2480,
          "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": 16,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "CLIP4",
          "gene_hgnc_id": 26108,
          "hgvs_c": "c.1534+41G>C",
          "hgvs_p": null,
          "transcript": "ENST00000690063.1",
          "protein_id": "ENSP00000508552.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 705,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2118,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4144,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "CLIP4",
          "gene_hgnc_id": 26108,
          "hgvs_c": "c.1534+41G>C",
          "hgvs_p": null,
          "transcript": "ENST00000693264.1",
          "protein_id": "ENSP00000509159.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 705,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2118,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4224,
          "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": 17,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "CLIP4",
          "gene_hgnc_id": 26108,
          "hgvs_c": "c.1534+41G>C",
          "hgvs_p": null,
          "transcript": "ENST00000689605.1",
          "protein_id": "ENSP00000508948.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 666,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2001,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4963,
          "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": 15,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "CLIP4",
          "gene_hgnc_id": 26108,
          "hgvs_c": "c.1399+3161G>C",
          "hgvs_p": null,
          "transcript": "ENST00000689017.1",
          "protein_id": "ENSP00000510497.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 660,
          "cds_start": -4,
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          "cds_length": 1983,
          "cdna_start": null,
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          "cdna_length": 4072,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
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          "exon_rank": null,
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          "exon_count": 14,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "CLIP4",
          "gene_hgnc_id": 26108,
          "hgvs_c": "c.1454+3106G>C",
          "hgvs_p": null,
          "transcript": "ENST00000687450.1",
          "protein_id": "ENSP00000508879.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 637,
          "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": "CLIP4",
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          "hgvs_c": "c.1534+41G>C",
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          "cds_start": -4,
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        {
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          "gene_symbol": "CLIP4",
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          "intron_rank_end": null,
          "gene_symbol": "CLIP4",
          "gene_hgnc_id": 26108,
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      "computational_score_selected": -0.9100000262260437,
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      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "bayesdelnoaf_score": -0.91,
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      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
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      "acmg_classification": "Likely_benign",
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      "acmg_by_gene": [
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          "benign_score": 4,
          "pathogenic_score": 2,
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            "BP4_Strong"
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          "verdict": "Likely_benign",
          "transcript": "ENST00000320081.10",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}