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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: 2-37646311-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=37646311&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 37646311,
      "ref": "A",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_006449.5",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDC42EP3",
          "gene_hgnc_id": 16943,
          "hgvs_c": "c.277T>G",
          "hgvs_p": "p.Ser93Ala",
          "transcript": "NM_006449.5",
          "protein_id": "NP_006440.2",
          "transcript_support_level": null,
          "aa_start": 93,
          "aa_end": null,
          "aa_length": 254,
          "cds_start": 277,
          "cds_end": null,
          "cds_length": 765,
          "cdna_start": 729,
          "cdna_end": null,
          "cdna_length": 5096,
          "mane_select": "ENST00000295324.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_006449.5"
        },
        {
          "aa_ref": "S",
          "aa_alt": "A",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDC42EP3",
          "gene_hgnc_id": 16943,
          "hgvs_c": "c.277T>G",
          "hgvs_p": "p.Ser93Ala",
          "transcript": "ENST00000295324.4",
          "protein_id": "ENSP00000295324.3",
          "transcript_support_level": 1,
          "aa_start": 93,
          "aa_end": null,
          "aa_length": 254,
          "cds_start": 277,
          "cds_end": null,
          "cds_length": 765,
          "cdna_start": 729,
          "cdna_end": null,
          "cdna_length": 5096,
          "mane_select": "NM_006449.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000295324.4"
        },
        {
          "aa_ref": "S",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDC42EP3",
          "gene_hgnc_id": 16943,
          "hgvs_c": "c.277T>G",
          "hgvs_p": "p.Ser93Ala",
          "transcript": "NM_001270436.2",
          "protein_id": "NP_001257365.1",
          "transcript_support_level": null,
          "aa_start": 93,
          "aa_end": null,
          "aa_length": 254,
          "cds_start": 277,
          "cds_end": null,
          "cds_length": 765,
          "cdna_start": 615,
          "cdna_end": null,
          "cdna_length": 4982,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001270436.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDC42EP3",
          "gene_hgnc_id": 16943,
          "hgvs_c": "c.277T>G",
          "hgvs_p": "p.Ser93Ala",
          "transcript": "NM_001270437.2",
          "protein_id": "NP_001257366.1",
          "transcript_support_level": null,
          "aa_start": 93,
          "aa_end": null,
          "aa_length": 254,
          "cds_start": 277,
          "cds_end": null,
          "cds_length": 765,
          "cdna_start": 671,
          "cdna_end": null,
          "cdna_length": 5038,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001270437.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDC42EP3",
          "gene_hgnc_id": 16943,
          "hgvs_c": "c.277T>G",
          "hgvs_p": "p.Ser93Ala",
          "transcript": "NM_001270438.2",
          "protein_id": "NP_001257367.1",
          "transcript_support_level": null,
          "aa_start": 93,
          "aa_end": null,
          "aa_length": 254,
          "cds_start": 277,
          "cds_end": null,
          "cds_length": 765,
          "cdna_start": 647,
          "cdna_end": null,
          "cdna_length": 5014,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001270438.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDC42EP3",
          "gene_hgnc_id": 16943,
          "hgvs_c": "c.277T>G",
          "hgvs_p": "p.Ser93Ala",
          "transcript": "NM_001371569.1",
          "protein_id": "NP_001358498.1",
          "transcript_support_level": null,
          "aa_start": 93,
          "aa_end": null,
          "aa_length": 254,
          "cds_start": 277,
          "cds_end": null,
          "cds_length": 765,
          "cdna_start": 633,
          "cdna_end": null,
          "cdna_length": 5000,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001371569.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDC42EP3",
          "gene_hgnc_id": 16943,
          "hgvs_c": "c.277T>G",
          "hgvs_p": "p.Ser93Ala",
          "transcript": "NM_001371570.1",
          "protein_id": "NP_001358499.1",
          "transcript_support_level": null,
          "aa_start": 93,
          "aa_end": null,
          "aa_length": 254,
          "cds_start": 277,
          "cds_end": null,
          "cds_length": 765,
          "cdna_start": 620,
          "cdna_end": null,
          "cdna_length": 4987,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001371570.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDC42EP3",
          "gene_hgnc_id": 16943,
          "hgvs_c": "c.277T>G",
          "hgvs_p": "p.Ser93Ala",
          "transcript": "ENST00000611976.1",
          "protein_id": "ENSP00000480549.1",
          "transcript_support_level": 3,
          "aa_start": 93,
          "aa_end": null,
          "aa_length": 254,
          "cds_start": 277,
          "cds_end": null,
          "cds_length": 765,
          "cdna_start": 695,
          "cdna_end": null,
          "cdna_length": 5124,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000611976.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CDC42EP3",
          "gene_hgnc_id": 16943,
          "hgvs_c": "c.277T>G",
          "hgvs_p": "p.Ser93Ala",
          "transcript": "ENST00000885380.1",
          "protein_id": "ENSP00000555439.1",
          "transcript_support_level": null,
          "aa_start": 93,
          "aa_end": null,
          "aa_length": 254,
          "cds_start": 277,
          "cds_end": null,
          "cds_length": 765,
          "cdna_start": 655,
          "cdna_end": null,
          "cdna_length": 2114,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000885380.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
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          "gene_symbol": "CDC42EP3",
          "gene_hgnc_id": 16943,
          "hgvs_c": "c.277T>G",
          "hgvs_p": "p.Ser93Ala",
          "transcript": "ENST00000885381.1",
          "protein_id": "ENSP00000555440.1",
          "transcript_support_level": null,
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          "mane_select": null,
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        {
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          ],
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          "exon_count": 2,
          "intron_rank": null,
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          "gene_symbol": "CDC42EP3",
          "gene_hgnc_id": 16943,
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          "hgvs_p": "p.Ser93Ala",
          "transcript": "ENST00000885382.1",
          "protein_id": "ENSP00000555441.1",
          "transcript_support_level": null,
          "aa_start": 93,
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          "cdna_start": 620,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        {
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          "gene_symbol": "CDC42EP3",
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        {
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          "strand": false,
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          ],
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          "hgvs_c": "c.277T>G",
          "hgvs_p": "p.Ser93Ala",
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        {
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          ],
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          "gene_symbol": "CDC42EP3",
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          "hgvs_c": "c.277T>G",
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          "transcript": "ENST00000927367.1",
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        {
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          "transcript": "ENST00000927368.1",
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        },
        {
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          "intron_rank": null,
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          "gene_symbol": "CDC42EP3",
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        {
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          "gene_symbol": "CDC42EP3",
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        {
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        {
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          "gene_symbol": "CDC42EP3",
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          "biotype": "protein_coding",
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        },
        {
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          ],
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          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "CDC42EP3",
          "gene_hgnc_id": 16943,
          "hgvs_c": "c.277T>G",
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          "transcript": "ENST00000956784.1",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}
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