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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: 11-117168609-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=117168609&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 117168609,
      "ref": "T",
      "alt": "C",
      "effect": "3_prime_UTR_variant",
      "transcript": "NM_002572.4",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PAFAH1B2",
          "gene_hgnc_id": 8575,
          "hgvs_c": "c.*910T>C",
          "hgvs_p": null,
          "transcript": "NM_002572.4",
          "protein_id": "NP_002563.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 690,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000527958.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_002572.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PAFAH1B2",
          "gene_hgnc_id": 8575,
          "hgvs_c": "c.*910T>C",
          "hgvs_p": null,
          "transcript": "ENST00000527958.6",
          "protein_id": "ENSP00000435289.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 690,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_002572.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000527958.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "PAFAH1B2",
          "gene_hgnc_id": 8575,
          "hgvs_c": "c.412-3013T>C",
          "hgvs_p": null,
          "transcript": "ENST00000530272.1",
          "protein_id": "ENSP00000431365.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 202,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 609,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000530272.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "PAFAH1B2",
          "gene_hgnc_id": 8575,
          "hgvs_c": "c.411+4717T>C",
          "hgvs_p": null,
          "transcript": "ENST00000529887.6",
          "protein_id": "ENSP00000434951.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 155,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 468,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000529887.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PAFAH1B2",
          "gene_hgnc_id": 8575,
          "hgvs_c": "c.*910T>C",
          "hgvs_p": null,
          "transcript": "ENST00000948518.1",
          "protein_id": "ENSP00000618577.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 231,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 696,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000948518.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PAFAH1B2",
          "gene_hgnc_id": 8575,
          "hgvs_c": "c.*910T>C",
          "hgvs_p": null,
          "transcript": "ENST00000903189.1",
          "protein_id": "ENSP00000573248.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 690,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903189.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PAFAH1B2",
          "gene_hgnc_id": 8575,
          "hgvs_c": "c.*910T>C",
          "hgvs_p": null,
          "transcript": "ENST00000903190.1",
          "protein_id": "ENSP00000573249.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 690,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903190.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PAFAH1B2",
          "gene_hgnc_id": 8575,
          "hgvs_c": "c.*910T>C",
          "hgvs_p": null,
          "transcript": "ENST00000903191.1",
          "protein_id": "ENSP00000573250.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 690,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903191.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PAFAH1B2",
          "gene_hgnc_id": 8575,
          "hgvs_c": "c.*910T>C",
          "hgvs_p": null,
          "transcript": "ENST00000903193.1",
          "protein_id": "ENSP00000573252.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 690,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903193.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PAFAH1B2",
          "gene_hgnc_id": 8575,
          "hgvs_c": "c.*910T>C",
          "hgvs_p": null,
          "transcript": "ENST00000903194.1",
          "protein_id": "ENSP00000573253.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
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          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "PAFAH1B2",
          "gene_hgnc_id": 8575,
          "hgvs_c": "c.*910T>C",
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          "transcript": "ENST00000928783.1",
          "protein_id": "ENSP00000598842.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 229,
          "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",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "consequences": [
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          ],
          "exon_rank": 7,
          "exon_rank_end": null,
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          "intron_rank": null,
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          "gene_symbol": "PAFAH1B2",
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          "transcript_support_level": null,
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          "cds_start": null,
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          "cdna_start": null,
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        {
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          "gene_symbol": "PAFAH1B2",
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        {
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          ],
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          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "PAFAH1B2",
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          "hgvs_c": "c.*910T>C",
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        {
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          "canonical": false,
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          "consequences": [
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          ],
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          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "PAFAH1B2",
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          "hgvs_c": "c.*910T>C",
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          ],
          "exon_rank": 7,
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          "intron_rank": null,
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          "gene_symbol": "PAFAH1B2",
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          "hgvs_c": "c.*910T>C",
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          "transcript": "ENST00000948517.1",
          "protein_id": "ENSP00000618576.1",
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        {
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        {
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          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 5,
          "intron_rank": null,
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          "gene_symbol": "PAFAH1B2",
          "gene_hgnc_id": 8575,
          "hgvs_c": "c.*910T>C",
          "hgvs_p": null,
          "transcript": "NM_001309431.2",
          "protein_id": "NP_001296360.1",
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          "aa_length": 181,
          "cds_start": null,
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        {
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}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.