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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: 15-25278417-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=25278417&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 25278417,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000424333.6",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 54,
          "intron_rank": 52,
          "intron_rank_end": null,
          "gene_symbol": "SNHG14",
          "gene_hgnc_id": 37462,
          "hgvs_c": "n.5729-430C>T",
          "hgvs_p": null,
          "transcript": "ENST00000424333.6",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7315,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "SNHG14",
          "gene_hgnc_id": 37462,
          "hgvs_c": "n.447-426C>T",
          "hgvs_p": null,
          "transcript": "ENST00000554726.2",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1168,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "SNHG14",
          "gene_hgnc_id": 37462,
          "hgvs_c": "n.841-430C>T",
          "hgvs_p": null,
          "transcript": "ENST00000452731.5",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1064,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": 37,
          "intron_rank_end": null,
          "gene_symbol": "SNHG14",
          "gene_hgnc_id": 37462,
          "hgvs_c": "n.4095-430C>T",
          "hgvs_p": null,
          "transcript": "ENST00000453082.5",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6087,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": 38,
          "intron_rank_end": null,
          "gene_symbol": "SNHG14",
          "gene_hgnc_id": 37462,
          "hgvs_c": "n.3589-430C>T",
          "hgvs_p": null,
          "transcript": "ENST00000652996.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3733,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": 26,
          "intron_rank_end": null,
          "gene_symbol": "SNHG14",
          "gene_hgnc_id": 37462,
          "hgvs_c": "n.2494-430C>T",
          "hgvs_p": null,
          "transcript": "ENST00000653389.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4080,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 59,
          "intron_rank": 57,
          "intron_rank_end": null,
          "gene_symbol": "SNHG14",
          "gene_hgnc_id": 37462,
          "hgvs_c": "n.6137-430C>T",
          "hgvs_p": null,
          "transcript": "ENST00000653489.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7723,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": 34,
          "intron_rank_end": null,
          "gene_symbol": "SNHG14",
          "gene_hgnc_id": 37462,
          "hgvs_c": "n.3165-430C>T",
          "hgvs_p": null,
          "transcript": "ENST00000654023.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4751,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "SNHG14",
          "gene_hgnc_id": 37462,
          "hgvs_c": "n.2502-430C>T",
          "hgvs_p": null,
          "transcript": "ENST00000654984.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3191,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 21,
          "intron_rank_end": null,
          "gene_symbol": "SNHG14",
          "gene_hgnc_id": 37462,
          "hgvs_c": "n.2153-430C>T",
          "hgvs_p": null,
          "transcript": "ENST00000656009.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2838,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 57,
          "intron_rank": 55,
          "intron_rank_end": null,
          "gene_symbol": "SNHG14",
          "gene_hgnc_id": 37462,
          "hgvs_c": "n.5419-430C>T",
          "hgvs_p": null,
          "transcript": "ENST00000656420.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 7005,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": 25,
          "intron_rank_end": null,
          "gene_symbol": "SNHG14",
          "gene_hgnc_id": 37462,
          "hgvs_c": "n.2449-430C>T",
          "hgvs_p": null,
          "transcript": "ENST00000656450.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 4035,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
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        },
        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          "exon_rank": null,
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          "exon_count": 8,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "SNHG14",
          "gene_hgnc_id": 37462,
          "hgvs_c": "n.1256-430C>T",
          "hgvs_p": null,
          "transcript": "ENST00000656474.1",
          "protein_id": null,
          "transcript_support_level": null,
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          "mane_select": null,
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        },
        {
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          "canonical": false,
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          "strand": true,
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          ],
          "exon_rank": null,
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          "exon_count": 5,
          "intron_rank": 3,
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          "gene_symbol": "SNHG14",
          "gene_hgnc_id": 37462,
          "hgvs_c": "n.503-430C>T",
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          "transcript": "ENST00000657011.1",
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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,
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          ],
          "exon_rank": null,
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          "exon_count": 8,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "SNHG14",
          "gene_hgnc_id": 37462,
          "hgvs_c": "n.1409-430C>T",
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          "transcript": "ENST00000658502.1",
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        {
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          "intron_rank": 22,
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          "gene_symbol": "SNHG14",
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          "hgvs_c": "n.2693-430C>T",
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          "transcript": "ENST00000660376.1",
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        },
        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 21,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "SNHG14",
          "gene_hgnc_id": 37462,
          "hgvs_c": "n.2069+26084C>T",
          "hgvs_p": null,
          "transcript": "ENST00000660430.1",
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        {
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          "strand": true,
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          "exon_rank": null,
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          "exon_count": 9,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "SNHG14",
          "gene_hgnc_id": 37462,
          "hgvs_c": "n.1026-430C>T",
          "hgvs_p": null,
          "transcript": "ENST00000661110.1",
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          "gene_symbol": "SNHG14",
          "gene_hgnc_id": 37462,
          "hgvs_c": "n.3735-430C>T",
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        {
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          ],
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          "gene_symbol": "SNHG14",
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        {
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          "strand": true,
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          ],
          "exon_rank": null,
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          "exon_count": 47,
          "intron_rank": 45,
          "intron_rank_end": null,
          "gene_symbol": "SNHG14",
          "gene_hgnc_id": 37462,
          "hgvs_c": "n.4390-430C>T",
          "hgvs_p": null,
          "transcript": "ENST00000663446.1",
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          "cdna_start": null,
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          "cdna_length": 5976,
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        },
        {
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          "strand": true,
          "consequences": [
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          ],
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      "computational_source_selected": "BayesDel_noAF",
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      "acmg_classification": "Benign",
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      "clinvar_disease": "not provided",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "not provided",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
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  ],
  "message": null
}