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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: 2-165874215-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=165874215&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 165874215,
      "ref": "A",
      "alt": "G",
      "effect": "3_prime_UTR_variant",
      "transcript": "NM_024753.5",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTC21B",
          "gene_hgnc_id": 25660,
          "hgvs_c": "c.*540T>C",
          "hgvs_p": null,
          "transcript": "NM_024753.5",
          "protein_id": "NP_079029.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1316,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3951,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5415,
          "mane_select": "ENST00000243344.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTC21B",
          "gene_hgnc_id": 25660,
          "hgvs_c": "c.*540T>C",
          "hgvs_p": null,
          "transcript": "ENST00000243344.8",
          "protein_id": "ENSP00000243344.7",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1316,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3951,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5415,
          "mane_select": "NM_024753.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTC21B",
          "gene_hgnc_id": 25660,
          "hgvs_c": "n.*540T>C",
          "hgvs_p": null,
          "transcript": "ENST00000679356.1",
          "protein_id": "ENSP00000506245.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8329,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTC21B",
          "gene_hgnc_id": 25660,
          "hgvs_c": "n.*540T>C",
          "hgvs_p": null,
          "transcript": "ENST00000679676.1",
          "protein_id": "ENSP00000505492.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8223,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTC21B",
          "gene_hgnc_id": 25660,
          "hgvs_c": "n.*540T>C",
          "hgvs_p": null,
          "transcript": "ENST00000679967.1",
          "protein_id": "ENSP00000506607.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8323,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTC21B",
          "gene_hgnc_id": 25660,
          "hgvs_c": "n.*3533T>C",
          "hgvs_p": null,
          "transcript": "ENST00000680327.1",
          "protein_id": "ENSP00000506639.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8344,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTC21B",
          "gene_hgnc_id": 25660,
          "hgvs_c": "n.*3743T>C",
          "hgvs_p": null,
          "transcript": "ENST00000680690.1",
          "protein_id": "ENSP00000506121.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8408,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTC21B",
          "gene_hgnc_id": 25660,
          "hgvs_c": "n.*540T>C",
          "hgvs_p": null,
          "transcript": "ENST00000680888.1",
          "protein_id": "ENSP00000506276.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8367,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTC21B",
          "gene_hgnc_id": 25660,
          "hgvs_c": "n.995T>C",
          "hgvs_p": null,
          "transcript": "ENST00000680904.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "cdna_start": null,
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          "cdna_length": 4730,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTC21B",
          "gene_hgnc_id": 25660,
          "hgvs_c": "n.*3763T>C",
          "hgvs_p": null,
          "transcript": "ENST00000680947.1",
          "protein_id": "ENSP00000506496.1",
          "transcript_support_level": null,
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          "cdna_length": 8188,
          "mane_select": null,
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        {
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          "canonical": false,
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          "exon_count": 31,
          "intron_rank": null,
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          "gene_symbol": "TTC21B",
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          "transcript": "ENST00000681024.1",
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          "mane_select": null,
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        {
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          "strand": false,
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          ],
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          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
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          "gene_symbol": "TTC21B",
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          "intron_rank": null,
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          "gene_symbol": "TTC21B",
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          "intron_rank": null,
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          "gene_symbol": "TTC21B",
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          "transcript": "ENST00000679356.1",
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          "exon_count": 30,
          "intron_rank": null,
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          "gene_symbol": "TTC21B",
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        {
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          "exon_count": 31,
          "intron_rank": null,
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          "gene_symbol": "TTC21B",
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        {
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          "consequences": [
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          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
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          "gene_symbol": "TTC21B",
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      "computational_source_selected": "BayesDel_noAF",
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      "splice_source_selected": "max_spliceai",
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      "phylop100way_score": 0.538,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
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      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
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      "clinvar_disease": "Asphyxiating thoracic dystrophy 4,Nephronophthisis 12",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:2",
      "phenotype_combined": "Nephronophthisis 12|Asphyxiating thoracic dystrophy 4",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
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  "message": null
}