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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: 6-52276714-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=52276714&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 52276714,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_001366369.2",
      "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": 17,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "MCM3",
          "gene_hgnc_id": 6945,
          "hgvs_c": "c.1166-238A>G",
          "hgvs_p": null,
          "transcript": "NM_002388.6",
          "protein_id": "NP_002379.4",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 808,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2427,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3068,
          "mane_select": "ENST00000596288.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_002388.6"
        },
        {
          "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": 17,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "MCM3",
          "gene_hgnc_id": 6945,
          "hgvs_c": "c.1166-238A>G",
          "hgvs_p": null,
          "transcript": "ENST00000596288.7",
          "protein_id": "ENSP00000472940.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 808,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2427,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3068,
          "mane_select": "NM_002388.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000596288.7"
        },
        {
          "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": 17,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "MCM3",
          "gene_hgnc_id": 6945,
          "hgvs_c": "c.1301-238A>G",
          "hgvs_p": null,
          "transcript": "ENST00000616552.4",
          "protein_id": "ENSP00000480987.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 853,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2562,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3208,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000616552.4"
        },
        {
          "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": 16,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "MCM3",
          "gene_hgnc_id": 6945,
          "hgvs_c": "c.1196-238A>G",
          "hgvs_p": null,
          "transcript": "ENST00000229854.12",
          "protein_id": "ENSP00000229854.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 818,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2457,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3095,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000229854.12"
        },
        {
          "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": 18,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "MCM3",
          "gene_hgnc_id": 6945,
          "hgvs_c": "c.1166-238A>G",
          "hgvs_p": null,
          "transcript": "ENST00000860054.1",
          "protein_id": "ENSP00000530113.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 839,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2520,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3229,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860054.1"
        },
        {
          "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": 18,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "MCM3",
          "gene_hgnc_id": 6945,
          "hgvs_c": "c.1166-238A>G",
          "hgvs_p": null,
          "transcript": "ENST00000860058.1",
          "protein_id": "ENSP00000530117.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 839,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2520,
          "cdna_start": null,
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          "cdna_length": 3159,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000860058.1"
        },
        {
          "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": 18,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "MCM3",
          "gene_hgnc_id": 6945,
          "hgvs_c": "c.1244-238A>G",
          "hgvs_p": null,
          "transcript": "ENST00000939873.1",
          "protein_id": "ENSP00000609932.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 834,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2505,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3179,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000939873.1"
        },
        {
          "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": 18,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "MCM3",
          "gene_hgnc_id": 6945,
          "hgvs_c": "c.1166-238A>G",
          "hgvs_p": null,
          "transcript": "NM_001366369.2",
          "protein_id": "NP_001353298.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 833,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2502,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3219,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001366369.2"
        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 17,
          "intron_rank": 8,
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          "gene_symbol": "MCM3",
          "gene_hgnc_id": 6945,
          "hgvs_c": "c.1166-238A>G",
          "hgvs_p": null,
          "transcript": "NM_001366370.2",
          "protein_id": "NP_001353299.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cdna_start": null,
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        {
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          "consequences": [
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          "exon_rank": null,
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          "intron_rank": 8,
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          "gene_symbol": "MCM3",
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          "hgvs_c": "c.1166-238A>G",
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          "transcript": "ENST00000860060.1",
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          "cds_start": null,
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For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.