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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: 8-86473939-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=86473939&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "8",
      "pos": 86473939,
      "ref": "T",
      "alt": "C",
      "effect": "3_prime_UTR_variant",
      "transcript": "NM_016033.3",
      "consequences": [
        {
          "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": "RMDN1",
          "gene_hgnc_id": 24285,
          "hgvs_c": "c.*369A>G",
          "hgvs_p": null,
          "transcript": "NM_016033.3",
          "protein_id": "NP_057117.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 314,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 945,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000406452.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_016033.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "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": "RMDN1",
          "gene_hgnc_id": 24285,
          "hgvs_c": "c.*369A>G",
          "hgvs_p": null,
          "transcript": "ENST00000406452.8",
          "protein_id": "ENSP00000385927.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 314,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 945,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_016033.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000406452.8"
        },
        {
          "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": "RMDN1",
          "gene_hgnc_id": 24285,
          "hgvs_c": "c.*369A>G",
          "hgvs_p": null,
          "transcript": "ENST00000902719.1",
          "protein_id": "ENSP00000572778.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 328,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 987,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000902719.1"
        },
        {
          "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": "RMDN1",
          "gene_hgnc_id": 24285,
          "hgvs_c": "c.*369A>G",
          "hgvs_p": null,
          "transcript": "ENST00000949087.1",
          "protein_id": "ENSP00000619146.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 312,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 939,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000949087.1"
        },
        {
          "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": "RMDN1",
          "gene_hgnc_id": 24285,
          "hgvs_c": "c.*369A>G",
          "hgvs_p": null,
          "transcript": "ENST00000949088.1",
          "protein_id": "ENSP00000619147.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 312,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 939,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000949088.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RMDN1",
          "gene_hgnc_id": 24285,
          "hgvs_c": "c.*369A>G",
          "hgvs_p": null,
          "transcript": "NM_001286719.2",
          "protein_id": "NP_001273648.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 284,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 855,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001286719.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RMDN1",
          "gene_hgnc_id": 24285,
          "hgvs_c": "c.*369A>G",
          "hgvs_p": null,
          "transcript": "NM_001286707.2",
          "protein_id": "NP_001273636.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 271,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 816,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001286707.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RMDN1",
          "gene_hgnc_id": 24285,
          "hgvs_c": "c.*369A>G",
          "hgvs_p": null,
          "transcript": "ENST00000902720.1",
          "protein_id": "ENSP00000572779.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 266,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 801,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000902720.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RMDN1",
          "gene_hgnc_id": 24285,
          "hgvs_c": "c.*369A>G",
          "hgvs_p": null,
          "transcript": "ENST00000949089.1",
          "protein_id": "ENSP00000619148.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 259,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 780,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000949089.1"
        },
        {
          "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": "RMDN1",
          "gene_hgnc_id": 24285,
          "hgvs_c": "c.*369A>G",
          "hgvs_p": null,
          "transcript": "XM_011517093.3",
          "protein_id": "XP_011515395.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 328,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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        },
        {
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          "canonical": false,
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          "consequences": [
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          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "RMDN1",
          "gene_hgnc_id": 24285,
          "hgvs_c": "c.*369A>G",
          "hgvs_p": null,
          "transcript": "XM_011517096.3",
          "protein_id": "XP_011515398.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 315,
          "cds_start": null,
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          "cds_length": 948,
          "cdna_start": null,
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          "mane_select": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "consequences": [
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          ],
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          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "RMDN1",
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          "cds_start": null,
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        {
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          "intron_rank": null,
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          "gene_symbol": "RMDN1",
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          "hgvs_c": "c.*369A>G",
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          "protein_id": "XP_011515399.1",
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          "cds_start": null,
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        {
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          "exon_count": 9,
          "intron_rank": null,
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          "gene_symbol": "RMDN1",
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          "hgvs_c": "c.*369A>G",
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          "transcript": "XM_011517098.3",
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          "cds_start": null,
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        {
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        {
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          "gene_symbol": "RMDN1",
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          "transcript": "ENST00000523911.5",
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          "intron_rank": 7,
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          "gene_symbol": "RMDN1",
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          "hgvs_c": "c.596-1460A>G",
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          "transcript": "ENST00000519789.5",
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        {
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        {
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          ],
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          "gene_symbol": "RMDN1",
          "gene_hgnc_id": 24285,
          "hgvs_c": "c.93+881A>G",
          "hgvs_p": null,
          "transcript": "ENST00000519247.5",
          "protein_id": "ENSP00000427818.1",
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          "cdna_start": null,
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        },
        {
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          "strand": true,
          "consequences": [
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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
}