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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: 2-1541338-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=1541338&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 1541338,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000329066.9",
      "consequences": [
        {
          "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": 17,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "TPO",
          "gene_hgnc_id": 12015,
          "hgvs_c": "c.2748+615G>A",
          "hgvs_p": null,
          "transcript": "NM_001206744.2",
          "protein_id": "NP_001193673.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 933,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2802,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4085,
          "mane_select": "ENST00000329066.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "TPO",
          "gene_hgnc_id": 12015,
          "hgvs_c": "c.2748+615G>A",
          "hgvs_p": null,
          "transcript": "ENST00000329066.9",
          "protein_id": "ENSP00000329869.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 933,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2802,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4085,
          "mane_select": "NM_001206744.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 17,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "TPO",
          "gene_hgnc_id": 12015,
          "hgvs_c": "c.2748+615G>A",
          "hgvs_p": null,
          "transcript": "ENST00000345913.8",
          "protein_id": "ENSP00000318820.7",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 933,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2802,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3145,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 16,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "TPO",
          "gene_hgnc_id": 12015,
          "hgvs_c": "c.2577+615G>A",
          "hgvs_p": null,
          "transcript": "ENST00000382201.7",
          "protein_id": "ENSP00000371636.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 876,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2631,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2956,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 15,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "TPO",
          "gene_hgnc_id": 12015,
          "hgvs_c": "c.2229+615G>A",
          "hgvs_p": null,
          "transcript": "ENST00000382198.5",
          "protein_id": "ENSP00000371633.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 760,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2283,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2283,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "TPO",
          "gene_hgnc_id": 12015,
          "hgvs_c": "n.910-1083G>A",
          "hgvs_p": null,
          "transcript": "ENST00000497517.6",
          "protein_id": null,
          "transcript_support_level": 1,
          "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": 1311,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TPO",
          "gene_hgnc_id": 12015,
          "hgvs_c": "c.*423G>A",
          "hgvs_p": null,
          "transcript": "ENST00000422464.5",
          "protein_id": "ENSP00000405788.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 864,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2595,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5391,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TPO",
          "gene_hgnc_id": 12015,
          "hgvs_c": "c.*423G>A",
          "hgvs_p": null,
          "transcript": "XM_024453085.2",
          "protein_id": "XP_024308853.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 947,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2844,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3983,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TPO",
          "gene_hgnc_id": 12015,
          "hgvs_c": "c.*423G>A",
          "hgvs_p": null,
          "transcript": "XM_024453087.2",
          "protein_id": "XP_024308855.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 935,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 3805,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TPO",
          "gene_hgnc_id": 12015,
          "hgvs_c": "c.*423G>A",
          "hgvs_p": null,
          "transcript": "XM_024453088.2",
          "protein_id": "XP_024308856.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 935,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
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        },
        {
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          "canonical": false,
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          "consequences": [
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          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
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          "gene_symbol": "TPO",
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          "hgvs_c": "c.*423G>A",
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          "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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          "exon_count": 19,
          "intron_rank": null,
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          "gene_symbol": "TPO",
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        {
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          "intron_rank": null,
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          "gene_symbol": "TPO",
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          "gene_symbol": "TPO",
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          "hgvs_c": "c.*423G>A",
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        {
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          "gene_symbol": "TPO",
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          "hgvs_c": "c.2748+615G>A",
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        {
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          "gene_symbol": "TPO",
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          "gene_symbol": "TPO",
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        {
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          ],
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          "exon_count": 16,
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          "intron_rank_end": null,
          "gene_symbol": "TPO",
          "gene_hgnc_id": 12015,
          "hgvs_c": "c.2577+615G>A",
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          "transcript": "NM_175719.4",
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