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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: 14-72270403-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=72270403&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 72270403,
      "ref": "G",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000553525.6",
      "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": 18,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "RGS6",
          "gene_hgnc_id": 10002,
          "hgvs_c": "c.85-81692G>T",
          "hgvs_p": null,
          "transcript": "NM_001204424.2",
          "protein_id": "NP_001191353.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 490,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1473,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6069,
          "mane_select": "ENST00000553525.6",
          "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": 18,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "RGS6",
          "gene_hgnc_id": 10002,
          "hgvs_c": "c.85-81692G>T",
          "hgvs_p": null,
          "transcript": "ENST00000553525.6",
          "protein_id": "ENSP00000451030.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 490,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1473,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6069,
          "mane_select": "NM_001204424.2",
          "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": 18,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "RGS6",
          "gene_hgnc_id": 10002,
          "hgvs_c": "c.85-81692G>T",
          "hgvs_p": null,
          "transcript": "ENST00000556437.5",
          "protein_id": "ENSP00000451855.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 490,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1473,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1689,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "RGS6",
          "gene_hgnc_id": 10002,
          "hgvs_c": "c.85-81692G>T",
          "hgvs_p": null,
          "transcript": "ENST00000404301.6",
          "protein_id": "ENSP00000385243.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 480,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1443,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1497,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "RGS6",
          "gene_hgnc_id": 10002,
          "hgvs_c": "c.85-81692G>T",
          "hgvs_p": null,
          "transcript": "ENST00000407322.8",
          "protein_id": "ENSP00000384612.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 477,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1434,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1497,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "RGS6",
          "gene_hgnc_id": 10002,
          "hgvs_c": "c.85-81692G>T",
          "hgvs_p": null,
          "transcript": "ENST00000406236.8",
          "protein_id": "ENSP00000384218.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1476,
          "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": 17,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "RGS6",
          "gene_hgnc_id": 10002,
          "hgvs_c": "c.85-81692G>T",
          "hgvs_p": null,
          "transcript": "ENST00000553530.5",
          "protein_id": "ENSP00000452331.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 472,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1419,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5685,
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "RGS6",
          "gene_hgnc_id": 10002,
          "hgvs_c": "c.85-81692G>T",
          "hgvs_p": null,
          "transcript": "ENST00000555571.5",
          "protein_id": "ENSP00000450936.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 472,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1419,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1764,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "RGS6",
          "gene_hgnc_id": 10002,
          "hgvs_c": "c.85-81692G>T",
          "hgvs_p": null,
          "transcript": "ENST00000355512.10",
          "protein_id": "ENSP00000347699.6",
          "transcript_support_level": 1,
          "aa_start": 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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          "feature": null
        },
        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          "exon_count": 19,
          "intron_rank": 2,
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          "gene_symbol": "RGS6",
          "gene_hgnc_id": 10002,
          "hgvs_c": "n.85-81692G>T",
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          "transcript": "ENST00000554474.5",
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          "transcript_support_level": 1,
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          "mane_select": null,
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        {
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          "gene_symbol": "RGS6",
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          "gene_symbol": "RGS6",
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          "gene_symbol": "RGS6",
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