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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: 2-182928655-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=182928655&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 182928655,
      "ref": "T",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "NM_205842.3",
      "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": 31,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "NCKAP1",
          "gene_hgnc_id": 7666,
          "hgvs_c": "c.3070+128A>T",
          "hgvs_p": null,
          "transcript": "NM_013436.5",
          "protein_id": "NP_038464.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1128,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3387,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000361354.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_013436.5"
        },
        {
          "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": 31,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "NCKAP1",
          "gene_hgnc_id": 7666,
          "hgvs_c": "c.3070+128A>T",
          "hgvs_p": null,
          "transcript": "ENST00000361354.9",
          "protein_id": "ENSP00000355348.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1128,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3387,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_013436.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000361354.9"
        },
        {
          "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": 32,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "NCKAP1",
          "gene_hgnc_id": 7666,
          "hgvs_c": "c.3088+128A>T",
          "hgvs_p": null,
          "transcript": "ENST00000360982.2",
          "protein_id": "ENSP00000354251.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1134,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3405,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000360982.2"
        },
        {
          "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": 32,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "NCKAP1",
          "gene_hgnc_id": 7666,
          "hgvs_c": "c.3088+128A>T",
          "hgvs_p": null,
          "transcript": "NM_205842.3",
          "protein_id": "NP_995314.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1134,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3405,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_205842.3"
        },
        {
          "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": 31,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "NCKAP1",
          "gene_hgnc_id": 7666,
          "hgvs_c": "c.3085+128A>T",
          "hgvs_p": null,
          "transcript": "ENST00000888539.1",
          "protein_id": "ENSP00000558598.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1133,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3402,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000888539.1"
        },
        {
          "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": 32,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "NCKAP1",
          "gene_hgnc_id": 7666,
          "hgvs_c": "c.3082+128A>T",
          "hgvs_p": null,
          "transcript": "NM_001437267.1",
          "protein_id": "NP_001424196.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1132,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3399,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001437267.1"
        },
        {
          "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": 32,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "NCKAP1",
          "gene_hgnc_id": 7666,
          "hgvs_c": "c.3082+128A>T",
          "hgvs_p": null,
          "transcript": "ENST00000703824.1",
          "protein_id": "ENSP00000515489.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1132,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3399,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000703824.1"
        },
        {
          "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": 31,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "NCKAP1",
          "gene_hgnc_id": 7666,
          "hgvs_c": "c.3064+128A>T",
          "hgvs_p": null,
          "transcript": "NM_001437266.1",
          "protein_id": "NP_001424195.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1126,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3381,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001437266.1"
        },
        {
          "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": 31,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "NCKAP1",
          "gene_hgnc_id": 7666,
          "hgvs_c": "c.3064+128A>T",
          "hgvs_p": null,
          "transcript": "ENST00000703825.1",
          "protein_id": "ENSP00000515490.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1126,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3381,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000703825.1"
        },
        {
          "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": 31,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "NCKAP1",
          "gene_hgnc_id": 7666,
          "hgvs_c": "c.3064+128A>T",
          "hgvs_p": null,
          "transcript": "ENST00000939370.1",
          "protein_id": "ENSP00000609429.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1126,
          "cds_start": null,
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          "cdna_start": null,
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        {
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          "canonical": false,
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          "intron_rank": 28,
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          "gene_symbol": "NCKAP1",
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          "hgvs_c": "c.3064+128A>T",
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          "transcript": "ENST00000939372.1",
          "protein_id": "ENSP00000609431.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 1126,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        {
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          "canonical": false,
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          "consequences": [
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          "gene_symbol": "NCKAP1",
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          "cdna_start": null,
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          "protein_id": "ENSP00000558597.1",
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          "gene_symbol": "NCKAP1",
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        {
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          "gene_symbol": "NCKAP1",
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          "transcript": "ENST00000966160.1",
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          "consequences": [
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          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "NCKAP1",
          "gene_hgnc_id": 7666,
          "hgvs_c": "c.2851+128A>T",
          "hgvs_p": null,
          "transcript": "ENST00000888536.1",
          "protein_id": "ENSP00000558595.1",
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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
}