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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: 22-31906291-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=31906291&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "22",
      "pos": 31906291,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "ENST00000651528.2",
      "consequences": [
        {
          "aa_ref": "Q",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4606C>G",
          "hgvs_p": "p.Gln1536Glu",
          "transcript": "NM_001242896.3",
          "protein_id": "NP_001229825.1",
          "transcript_support_level": null,
          "aa_start": 1536,
          "aa_end": null,
          "aa_length": 1603,
          "cds_start": 4606,
          "cds_end": null,
          "cds_length": 4812,
          "cdna_start": 4812,
          "cdna_end": null,
          "cdna_length": 6554,
          "mane_select": "ENST00000651528.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "E",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4606C>G",
          "hgvs_p": "p.Gln1536Glu",
          "transcript": "ENST00000651528.2",
          "protein_id": "ENSP00000498382.1",
          "transcript_support_level": null,
          "aa_start": 1536,
          "aa_end": null,
          "aa_length": 1603,
          "cds_start": 4606,
          "cds_end": null,
          "cds_length": 4812,
          "cdna_start": 4812,
          "cdna_end": null,
          "cdna_length": 6554,
          "mane_select": "NM_001242896.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4606C>G",
          "hgvs_p": "p.Gln1536Glu",
          "transcript": "ENST00000382112.8",
          "protein_id": "ENSP00000371546.4",
          "transcript_support_level": 1,
          "aa_start": 1536,
          "aa_end": null,
          "aa_length": 1603,
          "cds_start": 4606,
          "cds_end": null,
          "cds_length": 4812,
          "cdna_start": 4692,
          "cdna_end": null,
          "cdna_length": 5390,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4522C>G",
          "hgvs_p": "p.Gln1508Glu",
          "transcript": "ENST00000433147.2",
          "protein_id": "ENSP00000410544.2",
          "transcript_support_level": 1,
          "aa_start": 1508,
          "aa_end": null,
          "aa_length": 1575,
          "cds_start": 4522,
          "cds_end": null,
          "cds_length": 4728,
          "cdna_start": 4624,
          "cdna_end": null,
          "cdna_length": 5331,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4513C>G",
          "hgvs_p": "p.Gln1505Glu",
          "transcript": "ENST00000400248.7",
          "protein_id": "ENSP00000383107.1",
          "transcript_support_level": 1,
          "aa_start": 1505,
          "aa_end": null,
          "aa_length": 1572,
          "cds_start": 4513,
          "cds_end": null,
          "cds_length": 4719,
          "cdna_start": 4596,
          "cdna_end": null,
          "cdna_length": 5319,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 41,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "n.*870C>G",
          "hgvs_p": null,
          "transcript": "ENST00000400246.7",
          "protein_id": "ENSP00000383105.3",
          "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": 5725,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "n.*573C>G",
          "hgvs_p": null,
          "transcript": "ENST00000448753.6",
          "protein_id": "ENSP00000402173.1",
          "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": 3256,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 41,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "n.*870C>G",
          "hgvs_p": null,
          "transcript": "ENST00000400246.7",
          "protein_id": "ENSP00000383105.3",
          "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": 5725,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "n.*573C>G",
          "hgvs_p": null,
          "transcript": "ENST00000448753.6",
          "protein_id": "ENSP00000402173.1",
          "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": 3256,
          "mane_select": null,
          "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": 21,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000285404",
          "gene_hgnc_id": null,
          "hgvs_c": "c.1787-49848C>G",
          "hgvs_p": null,
          "transcript": "ENST00000646701.1",
          "protein_id": "ENSP00000496158.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 600,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1803,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1914,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4606C>G",
          "hgvs_p": "p.Gln1536Glu",
          "transcript": "NM_001364318.2",
          "protein_id": "NP_001351247.1",
          "transcript_support_level": null,
          "aa_start": 1536,
          "aa_end": null,
          "aa_length": 1603,
          "cds_start": 4606,
          "cds_end": null,
          "cds_length": 4812,
          "cdna_start": 4695,
          "cdna_end": null,
          "cdna_length": 6437,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4579C>G",
          "hgvs_p": "p.Gln1527Glu",
          "transcript": "NM_001136029.4",
          "protein_id": "NP_001129501.1",
          "transcript_support_level": null,
          "aa_start": 1527,
          "aa_end": null,
          "aa_length": 1594,
          "cds_start": 4579,
          "cds_end": null,
          "cds_length": 4785,
          "cdna_start": 4668,
          "cdna_end": null,
          "cdna_length": 6410,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4579C>G",
          "hgvs_p": "p.Gln1527Glu",
          "transcript": "ENST00000645711.1",
          "protein_id": "ENSP00000493489.1",
          "transcript_support_level": null,
          "aa_start": 1527,
          "aa_end": null,
          "aa_length": 1594,
          "cds_start": 4579,
          "cds_end": null,
          "cds_length": 4785,
          "cdna_start": 4736,
          "cdna_end": null,
          "cdna_length": 5450,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 41,
          "exon_rank_end": null,
          "exon_count": 41,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4564C>G",
          "hgvs_p": "p.Gln1522Glu",
          "transcript": "ENST00000645407.1",
          "protein_id": "ENSP00000496252.1",
          "transcript_support_level": null,
          "aa_start": 1522,
          "aa_end": null,
          "aa_length": 1589,
          "cds_start": 4564,
          "cds_end": null,
          "cds_length": 4770,
          "cdna_start": 4571,
          "cdna_end": null,
          "cdna_length": 5010,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4540C>G",
          "hgvs_p": "p.Gln1514Glu",
          "transcript": "NM_001363852.2",
          "protein_id": "NP_001350781.1",
          "transcript_support_level": null,
          "aa_start": 1514,
          "aa_end": null,
          "aa_length": 1581,
          "cds_start": 4540,
          "cds_end": null,
          "cds_length": 4746,
          "cdna_start": 4629,
          "cdna_end": null,
          "cdna_length": 5353,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4540C>G",
          "hgvs_p": "p.Gln1514Glu",
          "transcript": "NM_001364320.2",
          "protein_id": "NP_001351249.1",
          "transcript_support_level": null,
          "aa_start": 1514,
          "aa_end": null,
          "aa_length": 1581,
          "cds_start": 4540,
          "cds_end": null,
          "cds_length": 4746,
          "cdna_start": 4746,
          "cdna_end": null,
          "cdna_length": 6488,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4540C>G",
          "hgvs_p": "p.Gln1514Glu",
          "transcript": "ENST00000400249.7",
          "protein_id": "ENSP00000383108.3",
          "transcript_support_level": 5,
          "aa_start": 1514,
          "aa_end": null,
          "aa_length": 1581,
          "cds_start": 4540,
          "cds_end": null,
          "cds_length": 4746,
          "cdna_start": 4632,
          "cdna_end": null,
          "cdna_length": 5350,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4540C>G",
          "hgvs_p": "p.Gln1514Glu",
          "transcript": "ENST00000644331.1",
          "protein_id": "ENSP00000494406.1",
          "transcript_support_level": null,
          "aa_start": 1514,
          "aa_end": null,
          "aa_length": 1581,
          "cds_start": 4540,
          "cds_end": null,
          "cds_length": 4746,
          "cdna_start": 4685,
          "cdna_end": null,
          "cdna_length": 5383,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4522C>G",
          "hgvs_p": "p.Gln1508Glu",
          "transcript": "NM_001369901.1",
          "protein_id": "NP_001356830.1",
          "transcript_support_level": null,
          "aa_start": 1508,
          "aa_end": null,
          "aa_length": 1575,
          "cds_start": 4522,
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          "cds_length": 4728,
          "cdna_start": 4724,
          "cdna_end": null,
          "cdna_length": 5448,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DEPDC5",
          "gene_hgnc_id": 18423,
          "hgvs_c": "c.4522C>G",
          "hgvs_p": "p.Gln1508Glu",
          "transcript": "NM_001369902.1",
          "protein_id": "NP_001356831.1",
          "transcript_support_level": null,
          "aa_start": 1508,
          "aa_end": null,
          "aa_length": 1575,
          "cds_start": 4522,
          "cds_end": null,
          "cds_length": 4728,
          "cdna_start": 4611,
          "cdna_end": null,
          "cdna_length": 5335,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 42,
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      "clinvar_disease": "",
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      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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      "custom_annotations": null
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  "message": null
}