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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: 2-200920934-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=200920934&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 200920934,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_006190.5",
      "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": 18,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "ORC2",
          "gene_hgnc_id": 8488,
          "hgvs_c": "c.1294+59A>G",
          "hgvs_p": null,
          "transcript": "NM_006190.5",
          "protein_id": "NP_006181.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 577,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1734,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000234296.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_006190.5"
        },
        {
          "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": 18,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "ORC2",
          "gene_hgnc_id": 8488,
          "hgvs_c": "c.1294+59A>G",
          "hgvs_p": null,
          "transcript": "ENST00000234296.7",
          "protein_id": "ENSP00000234296.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 577,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1734,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_006190.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000234296.7"
        },
        {
          "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": 19,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "ORC2",
          "gene_hgnc_id": 8488,
          "hgvs_c": "c.1354+59A>G",
          "hgvs_p": null,
          "transcript": "ENST00000938732.1",
          "protein_id": "ENSP00000608791.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 597,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1794,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000938732.1"
        },
        {
          "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": 19,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "ORC2",
          "gene_hgnc_id": 8488,
          "hgvs_c": "c.1339+59A>G",
          "hgvs_p": null,
          "transcript": "ENST00000879137.1",
          "protein_id": "ENSP00000549196.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 592,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1779,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000879137.1"
        },
        {
          "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": 14,
          "intron_rank_end": null,
          "gene_symbol": "ORC2",
          "gene_hgnc_id": 8488,
          "hgvs_c": "c.1294+59A>G",
          "hgvs_p": null,
          "transcript": "ENST00000879139.1",
          "protein_id": "ENSP00000549198.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 577,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1734,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000879139.1"
        },
        {
          "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": 14,
          "intron_rank_end": null,
          "gene_symbol": "ORC2",
          "gene_hgnc_id": 8488,
          "hgvs_c": "c.1294+59A>G",
          "hgvs_p": null,
          "transcript": "ENST00000938735.1",
          "protein_id": "ENSP00000608794.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 577,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1734,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000938735.1"
        },
        {
          "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": 19,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "ORC2",
          "gene_hgnc_id": 8488,
          "hgvs_c": "c.1294+59A>G",
          "hgvs_p": null,
          "transcript": "ENST00000938738.1",
          "protein_id": "ENSP00000608797.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 577,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1734,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000938738.1"
        },
        {
          "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": 17,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "ORC2",
          "gene_hgnc_id": 8488,
          "hgvs_c": "c.1294+59A>G",
          "hgvs_p": null,
          "transcript": "ENST00000938739.1",
          "protein_id": "ENSP00000608798.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 577,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1734,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000938739.1"
        },
        {
          "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": 14,
          "intron_rank_end": null,
          "gene_symbol": "ORC2",
          "gene_hgnc_id": 8488,
          "hgvs_c": "c.1291+59A>G",
          "hgvs_p": null,
          "transcript": "ENST00000938731.1",
          "protein_id": "ENSP00000608790.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 576,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1731,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000938731.1"
        },
        {
          "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": 14,
          "intron_rank_end": null,
          "gene_symbol": "ORC2",
          "gene_hgnc_id": 8488,
          "hgvs_c": "c.1288+59A>G",
          "hgvs_p": null,
          "transcript": "ENST00000938734.1",
          "protein_id": "ENSP00000608793.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 575,
          "cds_start": null,
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          "cds_length": 1728,
          "cdna_start": null,
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          "cdna_length": null,
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        },
        {
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          "strand": false,
          "consequences": [
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          ],
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          "gene_symbol": "ORC2",
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          "hgvs_c": "c.1243+59A>G",
          "hgvs_p": null,
          "transcript": "ENST00000938737.1",
          "protein_id": "ENSP00000608796.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 560,
          "cds_start": null,
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          "cds_length": 1683,
          "cdna_start": null,
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          "biotype": "protein_coding",
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "intron_rank": 14,
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          "gene_symbol": "ORC2",
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          "hgvs_c": "c.1228+125A>G",
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          "transcript": "ENST00000938730.1",
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          "cds_start": null,
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        {
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          "gene_symbol": "ORC2",
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          "transcript": "ENST00000938740.1",
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        {
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          "gene_symbol": "ORC2",
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          "transcript": "ENST00000879138.1",
          "protein_id": "ENSP00000549197.1",
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        {
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        {
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          "gene_symbol": "ORC2",
          "gene_hgnc_id": 8488,
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          "transcript": "ENST00000938733.1",
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        {
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          "gene_symbol": "ORC2",
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        {
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          "exon_count": 19,
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          "intron_rank_end": null,
          "gene_symbol": "ORC2",
          "gene_hgnc_id": 8488,
          "hgvs_c": "c.1354+59A>G",
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          "transcript": "XM_011511252.4",
          "protein_id": "XP_011509554.1",
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          "cds_start": null,
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        },
        {
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          "consequences": [
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          ],
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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
}