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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: 20-52684661-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=52684661&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "20",
      "pos": 52684661,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000425279.6",
      "consequences": [
        {
          "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": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "LINC01524",
          "gene_hgnc_id": 51228,
          "hgvs_c": "n.261-414G>A",
          "hgvs_p": null,
          "transcript": "ENST00000421642.5",
          "protein_id": null,
          "transcript_support_level": 5,
          "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": 486,
          "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": 3,
          "intron_rank_end": null,
          "gene_symbol": "LINC01524",
          "gene_hgnc_id": 51228,
          "hgvs_c": "n.402-414G>A",
          "hgvs_p": null,
          "transcript": "ENST00000425279.6",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": 1058,
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "LINC01524",
          "gene_hgnc_id": 51228,
          "hgvs_c": "n.123+3111G>A",
          "hgvs_p": null,
          "transcript": "ENST00000437987.1",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": 182,
          "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": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "LINC01524",
          "gene_hgnc_id": 51228,
          "hgvs_c": "n.411-414G>A",
          "hgvs_p": null,
          "transcript": "ENST00000448013.6",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": 950,
          "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": 8,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "LINC01524",
          "gene_hgnc_id": 51228,
          "hgvs_c": "n.427-414G>A",
          "hgvs_p": null,
          "transcript": "ENST00000653245.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1360,
          "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": 7,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "LINC01524",
          "gene_hgnc_id": 51228,
          "hgvs_c": "n.382-414G>A",
          "hgvs_p": null,
          "transcript": "ENST00000653784.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1431,
          "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": 9,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "LINC01524",
          "gene_hgnc_id": 51228,
          "hgvs_c": "n.509-414G>A",
          "hgvs_p": null,
          "transcript": "ENST00000654945.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1383,
          "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": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "LINC01524",
          "gene_hgnc_id": 51228,
          "hgvs_c": "n.354-414G>A",
          "hgvs_p": null,
          "transcript": "ENST00000655419.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1291,
          "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": 8,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "LINC01524",
          "gene_hgnc_id": 51228,
          "hgvs_c": "n.464-414G>A",
          "hgvs_p": null,
          "transcript": "ENST00000656343.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1084,
          "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": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "LINC01524",
          "gene_hgnc_id": 51228,
          "hgvs_c": "n.173-8488G>A",
          "hgvs_p": null,
          "transcript": "ENST00000659204.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 658,
          "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": 3,
          "intron_rank_end": null,
          "gene_symbol": "LINC01524",
          "gene_hgnc_id": 51228,
          "hgvs_c": "n.345-414G>A",
          "hgvs_p": null,
          "transcript": "ENST00000661304.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 1547,
          "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": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "LINC01524",
          "gene_hgnc_id": 51228,
          "hgvs_c": "n.345-414G>A",
          "hgvs_p": null,
          "transcript": "ENST00000661373.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 974,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 8,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "LINC01524",
          "gene_hgnc_id": 51228,
          "hgvs_c": "n.439-414G>A",
          "hgvs_p": null,
          "transcript": "ENST00000661421.1",
          "protein_id": null,
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          "aa_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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        },
        {
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          "canonical": false,
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          "strand": true,
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          ],
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          "exon_count": 8,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "LINC01524",
          "gene_hgnc_id": 51228,
          "hgvs_c": "n.572-414G>A",
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          "mane_select": null,
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        },
        {
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          "canonical": false,
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          "strand": true,
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          ],
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          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "LINC01524",
          "gene_hgnc_id": 51228,
          "hgvs_c": "n.380-414G>A",
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          "transcript": "ENST00000661770.1",
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        {
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          "gene_symbol": "LINC01524",
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          "hgvs_c": "n.528-414G>A",
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        },
        {
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          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "LINC01524",
          "gene_hgnc_id": 51228,
          "hgvs_c": "n.189-414G>A",
          "hgvs_p": null,
          "transcript": "ENST00000662618.1",
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        {
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          "strand": true,
          "consequences": [
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          ],
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          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "LINC01524",
          "gene_hgnc_id": 51228,
          "hgvs_c": "n.84-414G>A",
          "hgvs_p": null,
          "transcript": "ENST00000663531.1",
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        {
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          "gene_symbol": "LINC01524",
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          "hgvs_c": "n.465-414G>A",
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          "gene_symbol": "LINC01524",
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        {
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          ],
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          "exon_count": 9,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "LINC01524",
          "gene_hgnc_id": 51228,
          "hgvs_c": "n.590-414G>A",
          "hgvs_p": null,
          "transcript": "ENST00000666117.1",
          "protein_id": null,
          "transcript_support_level": null,
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          "cdna_length": 1463,
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        },
        {
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          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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      "acmg_classification": "Benign",
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      "acmg_by_gene": [
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          "inheritance_mode": "",
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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
}