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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: 12-89687411-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=89687411&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 89687411,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_001366524.1",
      "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": 21,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ATP2B1",
          "gene_hgnc_id": 814,
          "hgvs_c": "c.-222+21185A>G",
          "hgvs_p": null,
          "transcript": "NM_001366521.1",
          "protein_id": "NP_001353450.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1220,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3663,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000428670.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001366521.1"
        },
        {
          "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": 21,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ATP2B1",
          "gene_hgnc_id": 814,
          "hgvs_c": "c.-222+21185A>G",
          "hgvs_p": null,
          "transcript": "ENST00000428670.8",
          "protein_id": "ENSP00000392043.3",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1220,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3663,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001366521.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000428670.8"
        },
        {
          "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": 22,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ATP2B1",
          "gene_hgnc_id": 814,
          "hgvs_c": "c.-222+21808A>G",
          "hgvs_p": null,
          "transcript": "ENST00000960959.1",
          "protein_id": "ENSP00000631018.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1258,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3777,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960959.1"
        },
        {
          "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": 22,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ATP2B1",
          "gene_hgnc_id": 814,
          "hgvs_c": "c.-222+21185A>G",
          "hgvs_p": null,
          "transcript": "ENST00000960960.1",
          "protein_id": "ENSP00000631019.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1258,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3777,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960960.1"
        },
        {
          "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": 22,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ATP2B1",
          "gene_hgnc_id": 814,
          "hgvs_c": "c.-222+21808A>G",
          "hgvs_p": null,
          "transcript": "NM_001366524.1",
          "protein_id": "NP_001353453.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1249,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3750,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001366524.1"
        },
        {
          "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": 22,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ATP2B1",
          "gene_hgnc_id": 814,
          "hgvs_c": "c.-222+21185A>G",
          "hgvs_p": null,
          "transcript": "NM_001366525.1",
          "protein_id": "NP_001353454.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1249,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3750,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001366525.1"
        },
        {
          "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": 22,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ATP2B1",
          "gene_hgnc_id": 814,
          "hgvs_c": "c.-416-9595A>G",
          "hgvs_p": null,
          "transcript": "NM_001366520.1",
          "protein_id": "NP_001353449.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1220,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3663,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001366520.1"
        },
        {
          "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": 21,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ATP2B1",
          "gene_hgnc_id": 814,
          "hgvs_c": "c.-222+20983A>G",
          "hgvs_p": null,
          "transcript": "NM_001366522.1",
          "protein_id": "NP_001353451.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1220,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3663,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001366522.1"
        },
        {
          "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": 22,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ATP2B1",
          "gene_hgnc_id": 814,
          "hgvs_c": "c.-416-9595A>G",
          "hgvs_p": null,
          "transcript": "NM_001413046.1",
          "protein_id": "NP_001399975.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1220,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3663,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001413046.1"
        },
        {
          "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": 22,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ATP2B1",
          "gene_hgnc_id": 814,
          "hgvs_c": "c.-325+21808A>G",
          "hgvs_p": null,
          "transcript": "NM_001413047.1",
          "protein_id": "NP_001399976.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1220,
          "cds_start": null,
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          "cds_length": 3663,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001413047.1"
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        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
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          "strand": false,
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          "exon_rank": null,
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          "exon_count": 21,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ATP2B1",
          "gene_hgnc_id": 814,
          "hgvs_c": "c.-222+21808A>G",
          "hgvs_p": null,
          "transcript": "NM_001682.3",
          "protein_id": "NP_001673.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1220,
          "cds_start": null,
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          "cds_length": 3663,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001682.3"
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
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          "intron_rank": 1,
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          "gene_symbol": "ATP2B1",
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          "hgvs_c": "c.-222+21808A>G",
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          "transcript": "ENST00000900650.1",
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          "cdna_start": null,
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        {
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          "intron_rank": 1,
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          "gene_symbol": "ATP2B1",
          "gene_hgnc_id": 814,
          "hgvs_c": "c.-222+20983A>G",
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          "transcript": "ENST00000939929.1",
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        {
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          "exon_count": 22,
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          "gene_symbol": "ATP2B1",
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          "hgvs_c": "c.-416-9595A>G",
          "hgvs_p": null,
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        {
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          "intron_rank": 1,
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          "gene_symbol": "ATP2B1",
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          "gene_symbol": "ATP2B1",
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          "hgvs_c": "c.-222+21185A>G",
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          "transcript": "NM_001413049.1",
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        {
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        {
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          "consequences": [
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          ],
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          "exon_count": 22,
          "intron_rank": 1,
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          "gene_symbol": "ATP2B1",
          "gene_hgnc_id": 814,
          "hgvs_c": "c.-222+21808A>G",
          "hgvs_p": null,
          "transcript": "NM_001001323.2",
          "protein_id": "NP_001001323.1",
          "transcript_support_level": null,
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          "cds_start": null,
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        {
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