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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: 9-115067708-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=115067708&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 115067708,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000350763.9",
      "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": 28,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "TNC",
          "gene_hgnc_id": 5318,
          "hgvs_c": "c.3215-2789G>A",
          "hgvs_p": null,
          "transcript": "NM_002160.4",
          "protein_id": "NP_002151.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2201,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6606,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8500,
          "mane_select": "ENST00000350763.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 28,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "TNC",
          "gene_hgnc_id": 5318,
          "hgvs_c": "c.3215-2789G>A",
          "hgvs_p": null,
          "transcript": "ENST00000350763.9",
          "protein_id": "ENSP00000265131.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2201,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6606,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8500,
          "mane_select": "NM_002160.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 10,
          "intron_rank_end": null,
          "gene_symbol": "TNC",
          "gene_hgnc_id": 5318,
          "hgvs_c": "c.3215-2789G>A",
          "hgvs_p": null,
          "transcript": "ENST00000423613.6",
          "protein_id": "ENSP00000411406.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1928,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5787,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6281,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 10,
          "intron_rank_end": null,
          "gene_symbol": "TNC",
          "gene_hgnc_id": 5318,
          "hgvs_c": "c.3214+5895G>A",
          "hgvs_p": null,
          "transcript": "ENST00000542877.6",
          "protein_id": "ENSP00000442242.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1838,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5517,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5879,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 10,
          "intron_rank_end": null,
          "gene_symbol": "TNC",
          "gene_hgnc_id": 5318,
          "hgvs_c": "c.3215-2789G>A",
          "hgvs_p": null,
          "transcript": "NM_001439065.1",
          "protein_id": "NP_001425994.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2384,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 7155,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9049,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 11,
          "intron_rank_end": null,
          "gene_symbol": "TNC",
          "gene_hgnc_id": 5318,
          "hgvs_c": "c.3215-2789G>A",
          "hgvs_p": null,
          "transcript": "NM_001439066.1",
          "protein_id": "NP_001425995.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2384,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 7155,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9153,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 32,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "TNC",
          "gene_hgnc_id": 5318,
          "hgvs_c": "c.3215-2789G>A",
          "hgvs_p": null,
          "transcript": "NM_001439067.1",
          "protein_id": "NP_001425996.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2384,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 7155,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9279,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 29,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "TNC",
          "gene_hgnc_id": 5318,
          "hgvs_c": "c.3215-2789G>A",
          "hgvs_p": null,
          "transcript": "NM_001439068.1",
          "protein_id": "NP_001425997.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2293,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6882,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8776,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 29,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "TNC",
          "gene_hgnc_id": 5318,
          "hgvs_c": "c.3215-2789G>A",
          "hgvs_p": null,
          "transcript": "NM_001439069.1",
          "protein_id": "NP_001425998.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 2293,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 8776,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 30,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "TNC",
          "gene_hgnc_id": 5318,
          "hgvs_c": "c.3215-2789G>A",
          "hgvs_p": null,
          "transcript": "NM_001439070.1",
          "protein_id": "NP_001425999.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 2293,
          "cds_start": -4,
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          "cds_length": 6882,
          "cdna_start": null,
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          "cdna_length": 8880,
          "mane_select": null,
          "mane_plus": null,
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          "feature": null
        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "intron_rank": 10,
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          "gene_symbol": "TNC",
          "gene_hgnc_id": 5318,
          "hgvs_c": "c.3215-2789G>A",
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          "transcript_support_level": 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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          "canonical": false,
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          "strand": false,
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          "exon_count": 28,
          "intron_rank": 10,
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          "gene_symbol": "TNC",
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          "hgvs_c": "c.3215-2789G>A",
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          "gene_symbol": "TNC",
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        {
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          "gene_symbol": "TNC",
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          "gene_symbol": "TNC",
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      "bayesdelnoaf_score": -0.88,
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      "acmg_by_gene": [
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          "verdict": "Likely_benign",
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          "effects": [
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          "inheritance_mode": "",
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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
}