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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: 1-94418439-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=94418439&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 94418439,
      "ref": "C",
      "alt": "T",
      "effect": "5_prime_UTR_premature_start_codon_gain_variant",
      "transcript": "NM_002858.4",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCD3",
          "gene_hgnc_id": 67,
          "hgvs_c": "c.-40C>T",
          "hgvs_p": null,
          "transcript": "NM_002858.4",
          "protein_id": "NP_002849.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 659,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1980,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000370214.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_002858.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCD3",
          "gene_hgnc_id": 67,
          "hgvs_c": "c.-40C>T",
          "hgvs_p": null,
          "transcript": "ENST00000370214.9",
          "protein_id": "ENSP00000359233.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 659,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1980,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_002858.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000370214.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCD3",
          "gene_hgnc_id": 67,
          "hgvs_c": "c.-40C>T",
          "hgvs_p": null,
          "transcript": "NM_002858.4",
          "protein_id": "NP_002849.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 659,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1980,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000370214.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_002858.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCD3",
          "gene_hgnc_id": 67,
          "hgvs_c": "c.-40C>T",
          "hgvs_p": null,
          "transcript": "ENST00000370214.9",
          "protein_id": "ENSP00000359233.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 659,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1980,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_002858.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000370214.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCD3",
          "gene_hgnc_id": 67,
          "hgvs_c": "c.-40C>T",
          "hgvs_p": null,
          "transcript": "ENST00000866889.1",
          "protein_id": "ENSP00000536948.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 683,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2052,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000866889.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCD3",
          "gene_hgnc_id": 67,
          "hgvs_c": "c.-40C>T",
          "hgvs_p": null,
          "transcript": "ENST00000966694.1",
          "protein_id": "ENSP00000636753.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 683,
          "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": "ENST00000966694.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCD3",
          "gene_hgnc_id": 67,
          "hgvs_c": "c.-40C>T",
          "hgvs_p": null,
          "transcript": "ENST00000866893.1",
          "protein_id": "ENSP00000536952.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 673,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2022,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000866893.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
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          "gene_symbol": "ABCD3",
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          "hgvs_c": "c.-40C>T",
          "hgvs_p": null,
          "transcript": "ENST00000966696.1",
          "protein_id": "ENSP00000636755.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 668,
          "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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          "consequences": [
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          "intron_rank": null,
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          "gene_symbol": "ABCD3",
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          "hgvs_c": "c.-40C>T",
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          "transcript": "ENST00000966700.1",
          "protein_id": "ENSP00000636759.1",
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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
}