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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: 2-127651845-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127651845&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 127651845,
      "ref": "A",
      "alt": "G",
      "effect": "3_prime_UTR_variant",
      "transcript": "ENST00000486700.2",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GPR17",
          "gene_hgnc_id": 4471,
          "hgvs_c": "c.*90A>G",
          "hgvs_p": null,
          "transcript": "NM_001161417.2",
          "protein_id": "NP_001154889.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 339,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1020,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2016,
          "mane_select": "ENST00000486700.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GPR17",
          "gene_hgnc_id": 4471,
          "hgvs_c": "c.*90A>G",
          "hgvs_p": null,
          "transcript": "ENST00000486700.2",
          "protein_id": "ENSP00000508383.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 339,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1020,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2016,
          "mane_select": "NM_001161417.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GPR17",
          "gene_hgnc_id": 4471,
          "hgvs_c": "c.*90A>G",
          "hgvs_p": null,
          "transcript": "ENST00000272644.7",
          "protein_id": "ENSP00000272644.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 367,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1104,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2062,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 4,
          "intron_rank_end": null,
          "gene_symbol": "LIMS2",
          "gene_hgnc_id": 16084,
          "hgvs_c": "c.359+2579T>C",
          "hgvs_p": null,
          "transcript": "NM_001161403.3",
          "protein_id": "NP_001154875.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 341,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1026,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2387,
          "mane_select": "ENST00000355119.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 10,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "LIMS2",
          "gene_hgnc_id": 16084,
          "hgvs_c": "c.359+2579T>C",
          "hgvs_p": null,
          "transcript": "ENST00000355119.9",
          "protein_id": "ENSP00000347240.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 341,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1026,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2387,
          "mane_select": "NM_001161403.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 4,
          "intron_rank_end": null,
          "gene_symbol": "LIMS2",
          "gene_hgnc_id": 16084,
          "hgvs_c": "c.431+2579T>C",
          "hgvs_p": null,
          "transcript": "ENST00000324938.9",
          "protein_id": "ENSP00000326888.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 365,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1098,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2111,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 4,
          "intron_rank_end": null,
          "gene_symbol": "LIMS2",
          "gene_hgnc_id": 16084,
          "hgvs_c": "c.344+2579T>C",
          "hgvs_p": null,
          "transcript": "ENST00000409455.5",
          "protein_id": "ENSP00000386383.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 336,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1011,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2500,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 4,
          "intron_rank_end": null,
          "gene_symbol": "LIMS2",
          "gene_hgnc_id": 16084,
          "hgvs_c": "c.344+2579T>C",
          "hgvs_p": null,
          "transcript": "ENST00000410011.5",
          "protein_id": "ENSP00000387002.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 336,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1011,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2335,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GPR17",
          "gene_hgnc_id": 4471,
          "hgvs_c": "c.*90A>G",
          "hgvs_p": null,
          "transcript": "NM_001161415.2",
          "protein_id": "NP_001154887.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 367,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1104,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2310,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GPR17",
          "gene_hgnc_id": 4471,
          "hgvs_c": "c.*90A>G",
          "hgvs_p": null,
          "transcript": "NM_005291.3",
          "protein_id": "NP_005282.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 367,
          "cds_start": -4,
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          "cds_length": 1104,
          "cdna_start": null,
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          "cdna_length": 2081,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
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          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GPR17",
          "gene_hgnc_id": 4471,
          "hgvs_c": "c.*90A>G",
          "hgvs_p": null,
          "transcript": "ENST00000544369.5",
          "protein_id": "ENSP00000442982.1",
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          "aa_start": null,
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          "aa_length": 367,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 2598,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GPR17",
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          "hgvs_c": "c.*90A>G",
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          "transcript": "NM_001161416.2",
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        {
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          "exon_rank": null,
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          "gene_symbol": "LIMS2",
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          "hgvs_c": "c.431+2579T>C",
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        {
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          "intron_rank": 5,
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          "gene_symbol": "LIMS2",
          "gene_hgnc_id": 16084,
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          "transcript": "NM_001136037.4",
          "protein_id": "NP_001129509.2",
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        {
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          "gene_symbol": "LIMS2",
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          "transcript": "NM_001161404.2",
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          "intron_rank": 6,
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          "gene_symbol": "LIMS2",
          "gene_hgnc_id": 16084,
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        {
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          "gene_symbol": "LIMS2",
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          "mane_select": null,
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        },
        {
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          ],
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          "exon_count": 10,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "LIMS2",
          "gene_hgnc_id": 16084,
          "hgvs_c": "c.416+2579T>C",
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          "transcript": "XM_047444963.1",
          "protein_id": "XP_047300919.1",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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      "custom_annotations": null
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  "message": null
}