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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: 4-184440088-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=184440088&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "4",
      "pos": 184440088,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "NM_002199.4",
      "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": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "IRF2",
          "gene_hgnc_id": 6117,
          "hgvs_c": "c.-6-11018G>A",
          "hgvs_p": null,
          "transcript": "NM_002199.4",
          "protein_id": "NP_002190.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 349,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1050,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000393593.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_002199.4"
        },
        {
          "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": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "IRF2",
          "gene_hgnc_id": 6117,
          "hgvs_c": "c.-6-11018G>A",
          "hgvs_p": null,
          "transcript": "ENST00000393593.8",
          "protein_id": "ENSP00000377218.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 349,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1050,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_002199.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000393593.8"
        },
        {
          "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": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "IRF2",
          "gene_hgnc_id": 6117,
          "hgvs_c": "c.-6-11018G>A",
          "hgvs_p": null,
          "transcript": "ENST00000505067.6",
          "protein_id": "ENSP00000421927.2",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 384,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1155,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000505067.6"
        },
        {
          "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": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "IRF2",
          "gene_hgnc_id": 6117,
          "hgvs_c": "c.-6-11018G>A",
          "hgvs_p": null,
          "transcript": "ENST00000883917.1",
          "protein_id": "ENSP00000553976.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 384,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1155,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000883917.1"
        },
        {
          "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": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "IRF2",
          "gene_hgnc_id": 6117,
          "hgvs_c": "c.-6-11018G>A",
          "hgvs_p": null,
          "transcript": "ENST00000883918.1",
          "protein_id": "ENSP00000553977.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 382,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1149,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000883918.1"
        },
        {
          "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": 10,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "IRF2",
          "gene_hgnc_id": 6117,
          "hgvs_c": "c.-7+7589G>A",
          "hgvs_p": null,
          "transcript": "ENST00000504340.2",
          "protein_id": "ENSP00000512878.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 349,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1050,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000504340.2"
        },
        {
          "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": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "IRF2",
          "gene_hgnc_id": 6117,
          "hgvs_c": "c.-6-11018G>A",
          "hgvs_p": null,
          "transcript": "ENST00000510814.6",
          "protein_id": "ENSP00000424552.2",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 349,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1050,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000510814.6"
        },
        {
          "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": 11,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "IRF2",
          "gene_hgnc_id": 6117,
          "hgvs_c": "c.-6-11018G>A",
          "hgvs_p": null,
          "transcript": "ENST00000696840.1",
          "protein_id": "ENSP00000512918.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 349,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1050,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000696840.1"
        },
        {
          "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": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "IRF2",
          "gene_hgnc_id": 6117,
          "hgvs_c": "c.-7+8552G>A",
          "hgvs_p": null,
          "transcript": "ENST00000696841.1",
          "protein_id": "ENSP00000512954.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 349,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1050,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000696841.1"
        },
        {
          "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": 10,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "IRF2",
          "gene_hgnc_id": 6117,
          "hgvs_c": "c.-6-11018G>A",
          "hgvs_p": null,
          "transcript": "ENST00000696843.1",
          "protein_id": "ENSP00000512920.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 349,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1050,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000696843.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 10,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "IRF2",
          "gene_hgnc_id": 6117,
          "hgvs_c": "c.-6-11018G>A",
          "hgvs_p": null,
          "transcript": "ENST00000696845.1",
          "protein_id": "ENSP00000512922.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 349,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1050,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000696845.1"
        },
        {
          "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": 12,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "IRF2",
          "gene_hgnc_id": 6117,
          "hgvs_c": "c.-6-11018G>A",
          "hgvs_p": null,
          "transcript": "ENST00000696846.1",
          "protein_id": "ENSP00000512923.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 349,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000696846.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "IRF2",
          "gene_hgnc_id": 6117,
          "hgvs_c": "c.-6-11018G>A",
          "hgvs_p": null,
          "transcript": "ENST00000696849.1",
          "protein_id": "ENSP00000512925.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 349,
          "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,
          "protein_coding": true,
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          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "IRF2",
          "gene_hgnc_id": 6117,
          "hgvs_c": "c.-6-11018G>A",
          "hgvs_p": null,
          "transcript": "ENST00000696851.1",
          "protein_id": "ENSP00000512927.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 349,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000696851.1"
        },
        {
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          "gene_symbol": "IRF2",
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          "hgvs_c": "c.-6-11018G>A",
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          "cds_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000883919.1"
        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "IRF2",
          "gene_hgnc_id": 6117,
          "hgvs_c": "c.-7+279G>A",
          "hgvs_p": null,
          "transcript": "ENST00000883920.1",
          "protein_id": "ENSP00000553979.1",
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          "cds_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000883920.1"
        },
        {
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          "canonical": false,
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          "consequences": [
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          ],
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          "exon_count": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "IRF2",
          "gene_hgnc_id": 6117,
          "hgvs_c": "c.-6-11018G>A",
          "hgvs_p": null,
          "transcript": "ENST00000956295.1",
          "protein_id": "ENSP00000626354.1",
          "transcript_support_level": null,
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          "cds_start": null,
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        {
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          "gene_symbol": "IRF2",
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        },
        {
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          ],
          "exon_rank": null,
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          "intron_rank": 1,
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          "gene_symbol": "IRF2",
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          "hgvs_c": "c.-7+7589G>A",
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          "transcript": "ENST00000696848.1",
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          "biotype": "protein_coding",
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        {
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "IRF2",
          "gene_hgnc_id": 6117,
          "hgvs_c": "c.-6-11018G>A",
          "hgvs_p": null,
          "transcript": "ENST00000696853.1",
          "protein_id": "ENSP00000512929.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 347,
          "cds_start": null,
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          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000696853.1"
        },
        {
          "aa_ref": null,
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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      "clinvar_disease": "",
      "clinvar_classification": "",
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      "custom_annotations": null
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  "message": null
}