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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: 17-65717752-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=65717752&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 65717752,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "NM_001353129.2",
      "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": 27,
          "intron_rank": 23,
          "intron_rank_end": null,
          "gene_symbol": "CEP112",
          "gene_hgnc_id": 28514,
          "hgvs_c": "c.2607+25316G>A",
          "hgvs_p": null,
          "transcript": "NM_001199165.4",
          "protein_id": "NP_001186094.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 955,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2868,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000535342.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001199165.4"
        },
        {
          "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": 27,
          "intron_rank": 23,
          "intron_rank_end": null,
          "gene_symbol": "CEP112",
          "gene_hgnc_id": 28514,
          "hgvs_c": "c.2607+25316G>A",
          "hgvs_p": null,
          "transcript": "ENST00000535342.7",
          "protein_id": "ENSP00000442784.2",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 955,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2868,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001199165.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000535342.7"
        },
        {
          "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": 25,
          "intron_rank": 21,
          "intron_rank_end": null,
          "gene_symbol": "CEP112",
          "gene_hgnc_id": 28514,
          "hgvs_c": "c.2481+25316G>A",
          "hgvs_p": null,
          "transcript": "ENST00000537949.5",
          "protein_id": "ENSP00000440775.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 913,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2742,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000537949.5"
        },
        {
          "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": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CEP112",
          "gene_hgnc_id": 28514,
          "hgvs_c": "c.375+25316G>A",
          "hgvs_p": null,
          "transcript": "ENST00000317442.12",
          "protein_id": "ENSP00000320592.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 211,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 636,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000317442.12"
        },
        {
          "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": 28,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "CEP112",
          "gene_hgnc_id": 28514,
          "hgvs_c": "c.2706+25316G>A",
          "hgvs_p": null,
          "transcript": "ENST00000859226.1",
          "protein_id": "ENSP00000529285.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 988,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2967,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000859226.1"
        },
        {
          "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": 27,
          "intron_rank": 23,
          "intron_rank_end": null,
          "gene_symbol": "CEP112",
          "gene_hgnc_id": 28514,
          "hgvs_c": "c.2610+25316G>A",
          "hgvs_p": null,
          "transcript": "NM_001353129.2",
          "protein_id": "NP_001340058.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 956,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2871,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001353129.2"
        },
        {
          "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": 27,
          "intron_rank": 23,
          "intron_rank_end": null,
          "gene_symbol": "CEP112",
          "gene_hgnc_id": 28514,
          "hgvs_c": "c.2610+25316G>A",
          "hgvs_p": null,
          "transcript": "ENST00000859224.1",
          "protein_id": "ENSP00000529283.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 956,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2871,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000859224.1"
        },
        {
          "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": 27,
          "intron_rank": 23,
          "intron_rank_end": null,
          "gene_symbol": "CEP112",
          "gene_hgnc_id": 28514,
          "hgvs_c": "c.2610+25316G>A",
          "hgvs_p": null,
          "transcript": "ENST00000859225.1",
          "protein_id": "ENSP00000529284.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 956,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2871,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000859225.1"
        },
        {
          "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": 27,
          "intron_rank": 23,
          "intron_rank_end": null,
          "gene_symbol": "CEP112",
          "gene_hgnc_id": 28514,
          "hgvs_c": "c.2610+25316G>A",
          "hgvs_p": null,
          "transcript": "ENST00000952586.1",
          "protein_id": "ENSP00000622645.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 956,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2871,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000952586.1"
        },
        {
          "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": 27,
          "intron_rank": 23,
          "intron_rank_end": null,
          "gene_symbol": "CEP112",
          "gene_hgnc_id": 28514,
          "hgvs_c": "c.2607+25316G>A",
          "hgvs_p": null,
          "transcript": "NM_001353127.2",
          "protein_id": "NP_001340056.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 955,
          "cds_start": null,
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          "cds_length": 2868,
          "cdna_start": null,
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          "mane_select": null,
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        },
        {
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          "gene_symbol": "CEP112",
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          "hgvs_c": "c.2607+25316G>A",
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          "transcript": "ENST00000392769.6",
          "protein_id": "ENSP00000376522.2",
          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": 955,
          "cds_start": null,
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          "cdna_start": null,
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        {
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          "gene_symbol": "CEP112",
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        {
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        {
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          "gene_symbol": "CEP112",
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          "transcript": "ENST00000952577.1",
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        {
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          "gene_symbol": "CEP112",
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        {
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          "intron_rank": 21,
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          "gene_symbol": "CEP112",
          "gene_hgnc_id": 28514,
          "hgvs_c": "c.2481+25316G>A",
          "hgvs_p": null,
          "transcript": "NM_001302891.3",
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        {
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