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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: 6-90526009-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=90526009&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 90526009,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000369329.8",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K7",
          "gene_hgnc_id": 6859,
          "hgvs_c": "c.1357-2226A>G",
          "hgvs_p": null,
          "transcript": "NM_145331.3",
          "protein_id": "NP_663304.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 606,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1821,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4932,
          "mane_select": "ENST00000369329.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K7",
          "gene_hgnc_id": 6859,
          "hgvs_c": "c.1357-2226A>G",
          "hgvs_p": null,
          "transcript": "ENST00000369329.8",
          "protein_id": "ENSP00000358335.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 606,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1821,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4932,
          "mane_select": "NM_145331.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K7",
          "gene_hgnc_id": 6859,
          "hgvs_c": "c.1276-2226A>G",
          "hgvs_p": null,
          "transcript": "ENST00000369332.7",
          "protein_id": "ENSP00000358338.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 579,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1740,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4830,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K7",
          "gene_hgnc_id": 6859,
          "hgvs_c": "c.1357-2226A>G",
          "hgvs_p": null,
          "transcript": "ENST00000369325.7",
          "protein_id": "ENSP00000358331.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 518,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1557,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4633,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K7",
          "gene_hgnc_id": 6859,
          "hgvs_c": "c.1276-2226A>G",
          "hgvs_p": null,
          "transcript": "ENST00000369327.7",
          "protein_id": "ENSP00000358333.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 491,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1476,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4558,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K7",
          "gene_hgnc_id": 6859,
          "hgvs_c": "c.1351-2226A>G",
          "hgvs_p": null,
          "transcript": "ENST00000700592.1",
          "protein_id": "ENSP00000515083.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 604,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1815,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2768,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K7",
          "gene_hgnc_id": 6859,
          "hgvs_c": "c.1276-2226A>G",
          "hgvs_p": null,
          "transcript": "NM_003188.4",
          "protein_id": "NP_003179.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 579,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1740,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4851,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K7",
          "gene_hgnc_id": 6859,
          "hgvs_c": "c.1210-2226A>G",
          "hgvs_p": null,
          "transcript": "ENST00000700591.1",
          "protein_id": "ENSP00000515082.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 557,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1674,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2624,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K7",
          "gene_hgnc_id": 6859,
          "hgvs_c": "c.1357-2226A>G",
          "hgvs_p": null,
          "transcript": "NM_145332.3",
          "protein_id": "NP_663305.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 518,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1557,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4816,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K7",
          "gene_hgnc_id": 6859,
          "hgvs_c": "c.1276-2226A>G",
          "hgvs_p": null,
          "transcript": "NM_145333.3",
          "protein_id": "NP_663306.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 491,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1476,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4735,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K7",
          "gene_hgnc_id": 6859,
          "hgvs_c": "c.967-2226A>G",
          "hgvs_p": null,
          "transcript": "ENST00000700593.1",
          "protein_id": "ENSP00000515084.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 476,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1431,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2476,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K7",
          "gene_hgnc_id": 6859,
          "hgvs_c": "c.121-2226A>G",
          "hgvs_p": null,
          "transcript": "ENST00000703101.1",
          "protein_id": "ENSP00000515169.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 194,
          "cds_start": -4,
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          "cdna_start": null,
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          "feature": null
        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "exon_rank": null,
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          "exon_count": 9,
          "intron_rank": 5,
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          "gene_symbol": "MAP3K7",
          "gene_hgnc_id": 6859,
          "hgvs_c": "n.2046-2226A>G",
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          "transcript": "ENST00000369320.1",
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          "transcript_support_level": 5,
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          "mane_select": null,
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        },
        {
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          "gene_symbol": "MAP3K7",
          "gene_hgnc_id": 6859,
          "hgvs_c": "n.883-2226A>G",
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          "transcript": "ENST00000479630.1",
          "protein_id": null,
          "transcript_support_level": 2,
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          "mane_select": null,
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        },
        {
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          ],
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          "intron_rank": 12,
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          "gene_symbol": "MAP3K7",
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          "hgvs_c": "n.1276-2226A>G",
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        {
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          "intron_rank_end": null,
          "gene_symbol": "MAP3K7",
          "gene_hgnc_id": 6859,
          "hgvs_c": "n.*498-2226A>G",
          "hgvs_p": null,
          "transcript": "ENST00000700581.1",
          "protein_id": "ENSP00000515075.1",
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        {
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          "canonical": false,
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          "consequences": [
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          "intron_rank": 14,
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          "gene_symbol": "MAP3K7",
          "gene_hgnc_id": 6859,
          "hgvs_c": "n.*1212-2226A>G",
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          "transcript": "ENST00000700582.1",
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          "mane_select": null,
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 16,
          "intron_rank": 12,
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          "gene_symbol": "MAP3K7",
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        {
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          "gene_symbol": "MAP3K7",
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          "gene_symbol": "MAP3K7",
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          "hgvs_c": "n.*44-2226A>G",
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          "mane_select": null,
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          "biotype": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
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          ],
          "exon_rank": null,
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          "exon_count": 10,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "MAP3K7",
          "gene_hgnc_id": 6859,
          "hgvs_c": "n.1027-2226A>G",
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          "transcript": "ENST00000700586.1",
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          "verdict": "Benign",
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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
}