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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: 3-24118060-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=24118060&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 24118060,
      "ref": "G",
      "alt": "A",
      "effect": "3_prime_UTR_variant",
      "transcript": "NM_001354712.2",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.*4824C>T",
          "hgvs_p": null,
          "transcript": "NM_001354712.2",
          "protein_id": "NP_001341641.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7576,
          "mane_select": "ENST00000646209.2",
          "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": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.*4824C>T",
          "hgvs_p": null,
          "transcript": "ENST00000646209.2",
          "protein_id": "ENSP00000496686.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7576,
          "mane_select": "NM_001354712.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.*4824C>T",
          "hgvs_p": null,
          "transcript": "NM_000461.5",
          "protein_id": "NP_000452.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7430,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.*4824C>T",
          "hgvs_p": null,
          "transcript": "NM_001128176.3",
          "protein_id": "NP_001121648.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7541,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.*4824C>T",
          "hgvs_p": null,
          "transcript": "NM_001128177.2",
          "protein_id": "NP_001121649.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7567,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.*4824C>T",
          "hgvs_p": null,
          "transcript": "NM_001252634.2",
          "protein_id": "NP_001239563.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": -4,
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          "cds_length": 1386,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7665,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.*4824C>T",
          "hgvs_p": null,
          "transcript": "NM_001354708.2",
          "protein_id": "NP_001341637.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7807,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.*4824C>T",
          "hgvs_p": null,
          "transcript": "NM_001354709.2",
          "protein_id": "NP_001341638.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7344,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.*4824C>T",
          "hgvs_p": null,
          "transcript": "NM_001354710.2",
          "protein_id": "NP_001341639.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.*4824C>T",
          "hgvs_p": null,
          "transcript": "NM_001354711.2",
          "protein_id": "NP_001341640.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "mane_select": null,
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        {
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          "exon_count": 10,
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          "gene_symbol": "THRB",
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          "hgvs_c": "c.*4824C>T",
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        {
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          "intron_rank": null,
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          "gene_symbol": "THRB",
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          "gene_symbol": "THRB",
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          "hgvs_c": "c.*4824C>T",
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          "transcript": "NM_001374824.1",
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        {
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          "gene_symbol": "THRB",
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        {
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        },
        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "THRB",
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          "transcript": "XM_011534047.4",
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      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "B:1",
      "phenotype_combined": "Thyroid hormone resistance, generalized, autosomal dominant",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
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}