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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: 7-130944734-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=130944734&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 130944734,
      "ref": "T",
      "alt": "C",
      "effect": "non_coding_transcript_exon_variant",
      "transcript": "ENST00000433079.5",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LINC-PINT",
          "gene_hgnc_id": 26885,
          "hgvs_c": "n.690A>G",
          "hgvs_p": null,
          "transcript": "ENST00000433079.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1262,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000433079.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LINC-PINT",
          "gene_hgnc_id": 26885,
          "hgvs_c": "n.1843A>G",
          "hgvs_p": null,
          "transcript": "ENST00000431189.3",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2417,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000431189.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LINC-PINT",
          "gene_hgnc_id": 26885,
          "hgvs_c": "n.650A>G",
          "hgvs_p": null,
          "transcript": "ENST00000435523.6",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1224,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000435523.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LINC-PINT",
          "gene_hgnc_id": 26885,
          "hgvs_c": "n.2938A>G",
          "hgvs_p": null,
          "transcript": "ENST00000451786.6",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3512,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000451786.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LINC-PINT",
          "gene_hgnc_id": 26885,
          "hgvs_c": "n.987A>G",
          "hgvs_p": null,
          "transcript": "ENST00000642156.3",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1561,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000642156.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LINC-PINT",
          "gene_hgnc_id": 26885,
          "hgvs_c": "n.547A>G",
          "hgvs_p": null,
          "transcript": "ENST00000642602.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1106,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000642602.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LINC-PINT",
          "gene_hgnc_id": 26885,
          "hgvs_c": "n.1764A>G",
          "hgvs_p": null,
          "transcript": "ENST00000643135.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2205,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000643135.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LINC-PINT",
          "gene_hgnc_id": 26885,
          "hgvs_c": "n.907A>G",
          "hgvs_p": null,
          "transcript": "ENST00000643373.3",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1481,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000643373.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LINC-PINT",
          "gene_hgnc_id": 26885,
          "hgvs_c": "n.775A>G",
          "hgvs_p": null,
          "transcript": "ENST00000643855.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
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          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1002,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000643855.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LINC-PINT",
          "gene_hgnc_id": 26885,
          "hgvs_c": "n.1092A>G",
          "hgvs_p": null,
          "transcript": "ENST00000643874.2",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": null,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 1803,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
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        },
        {
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 7,
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          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "LINC-PINT",
          "gene_hgnc_id": 26885,
          "hgvs_c": "n.763A>G",
          "hgvs_p": null,
          "transcript": "ENST00000644188.1",
          "protein_id": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": 789,
          "mane_select": null,
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          "biotype": "pseudogene",
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
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          "intron_rank": null,
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          "gene_symbol": "LINC-PINT",
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          "hgvs_c": "n.1557A>G",
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        {
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        },
        {
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          "consequences": [
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          ],
          "exon_rank": 6,
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          "intron_rank": null,
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          "gene_symbol": "LINC-PINT",
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          "hgvs_c": "n.660A>G",
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          "transcript": "ENST00000646429.2",
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        },
        {
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "LINC-PINT",
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          "hgvs_c": "n.1023A>G",
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          "transcript": "ENST00000647288.1",
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        },
        {
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          "intron_rank": null,
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          "gene_symbol": "LINC-PINT",
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          "hgvs_c": "n.669A>G",
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        {
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        },
        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "LINC-PINT",
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        },
        {
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          "strand": false,
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          ],
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          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "LINC-PINT",
          "gene_hgnc_id": 26885,
          "hgvs_c": "n.838A>G",
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          "transcript": "ENST00000701177.1",
          "protein_id": null,
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          "cdna_length": 1412,
          "mane_select": null,
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          "biotype": "pseudogene",
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        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 6,
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          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
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      "computational_score_selected": -0.8100000023841858,
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      "phylop100way_prediction": "Benign",
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      "acmg_classification": "Benign",
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          "verdict": "Benign",
          "transcript": "ENST00000433079.5",
          "gene_symbol": "LINC-PINT",
          "hgnc_id": 26885,
          "effects": [
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          "inheritance_mode": "",
          "hgvs_c": "n.690A>G",
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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
}
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.