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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: 2-217880163-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=217880163&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 217880163,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000682258.1",
      "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": 33,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.1429+735G>A",
          "hgvs_p": null,
          "transcript": "NM_001387777.1",
          "protein_id": "NP_001374706.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1839,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5520,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10311,
          "mane_select": "ENST00000682258.1",
          "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": 33,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.1429+735G>A",
          "hgvs_p": null,
          "transcript": "ENST00000682258.1",
          "protein_id": "ENSP00000506917.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1839,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5520,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10311,
          "mane_select": "NM_001387777.1",
          "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": 33,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.1054+735G>A",
          "hgvs_p": null,
          "transcript": "ENST00000171887.8",
          "protein_id": "ENSP00000171887.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1735,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5208,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10331,
          "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": 16,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.1054+735G>A",
          "hgvs_p": null,
          "transcript": "ENST00000419504.6",
          "protein_id": "ENSP00000408724.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1721,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5166,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6154,
          "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": 19,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.1429+735G>A",
          "hgvs_p": null,
          "transcript": "ENST00000446903.5",
          "protein_id": "ENSP00000405460.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 779,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2341,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2464,
          "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": 14,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.1147+735G>A",
          "hgvs_p": null,
          "transcript": "ENST00000310858.10",
          "protein_id": "ENSP00000308321.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 416,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1251,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1792,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.1492+735G>A",
          "hgvs_p": null,
          "transcript": "NM_001438865.1",
          "protein_id": "NP_001425794.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1860,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5583,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10331,
          "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": 33,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.1492+735G>A",
          "hgvs_p": null,
          "transcript": "ENST00000646520.1",
          "protein_id": "ENSP00000493967.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1860,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5583,
          "cdna_start": null,
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          "cdna_length": 10680,
          "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": 33,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.1429+735G>A",
          "hgvs_p": null,
          "transcript": "NM_001438866.1",
          "protein_id": "NP_001425795.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 1838,
          "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,
          "consequences": [
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          "exon_count": 33,
          "intron_rank": 17,
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          "gene_symbol": "TNS1",
          "gene_hgnc_id": 11973,
          "hgvs_c": "c.1354+735G>A",
          "hgvs_p": null,
          "transcript": "ENST00000651849.1",
          "protein_id": "ENSP00000498399.1",
          "transcript_support_level": null,
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          "cds_start": -4,
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          "mane_select": null,
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        {
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          "gene_symbol": "TNS1",
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          "intron_rank": 16,
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          "gene_symbol": "TNS1",
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