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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: 15-50459061-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=50459061&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 50459061,
      "ref": "C",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_005154.5",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "USP8",
          "gene_hgnc_id": 12631,
          "hgvs_c": "c.397C>A",
          "hgvs_p": "p.Arg133Arg",
          "transcript": "NM_005154.5",
          "protein_id": "NP_005145.3",
          "transcript_support_level": null,
          "aa_start": 133,
          "aa_end": null,
          "aa_length": 1118,
          "cds_start": 397,
          "cds_end": null,
          "cds_length": 3357,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000307179.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_005154.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "USP8",
          "gene_hgnc_id": 12631,
          "hgvs_c": "c.397C>A",
          "hgvs_p": "p.Arg133Arg",
          "transcript": "ENST00000307179.9",
          "protein_id": "ENSP00000302239.4",
          "transcript_support_level": 1,
          "aa_start": 133,
          "aa_end": null,
          "aa_length": 1118,
          "cds_start": 397,
          "cds_end": null,
          "cds_length": 3357,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_005154.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000307179.9"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "USP8",
          "gene_hgnc_id": 12631,
          "hgvs_c": "c.397C>A",
          "hgvs_p": "p.Arg133Arg",
          "transcript": "ENST00000396444.7",
          "protein_id": "ENSP00000379721.3",
          "transcript_support_level": 1,
          "aa_start": 133,
          "aa_end": null,
          "aa_length": 1118,
          "cds_start": 397,
          "cds_end": null,
          "cds_length": 3357,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000396444.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "USP8",
          "gene_hgnc_id": 12631,
          "hgvs_c": "n.397C>A",
          "hgvs_p": null,
          "transcript": "ENST00000559329.5",
          "protein_id": "ENSP00000454003.1",
          "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": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "non_stop_decay",
          "feature": "ENST00000559329.5"
        },
        {
          "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": 10,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "USP8",
          "gene_hgnc_id": 12631,
          "hgvs_c": "n.336-3219C>A",
          "hgvs_p": null,
          "transcript": "ENST00000560730.5",
          "protein_id": "ENSP00000452950.1",
          "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": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000560730.5"
        },
        {
          "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": "USP8",
          "gene_hgnc_id": 12631,
          "hgvs_c": "n.335+9576C>A",
          "hgvs_p": null,
          "transcript": "ENST00000561330.1",
          "protein_id": "ENSP00000453460.1",
          "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": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000561330.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "USP8",
          "gene_hgnc_id": 12631,
          "hgvs_c": "c.523C>A",
          "hgvs_p": "p.Arg175Arg",
          "transcript": "ENST00000956759.1",
          "protein_id": "ENSP00000626818.1",
          "transcript_support_level": null,
          "aa_start": 175,
          "aa_end": null,
          "aa_length": 1160,
          "cds_start": 523,
          "cds_end": null,
          "cds_length": 3483,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000956759.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "USP8",
          "gene_hgnc_id": 12631,
          "hgvs_c": "c.523C>A",
          "hgvs_p": "p.Arg175Arg",
          "transcript": "ENST00000956763.1",
          "protein_id": "ENSP00000626822.1",
          "transcript_support_level": null,
          "aa_start": 175,
          "aa_end": null,
          "aa_length": 1131,
          "cds_start": 523,
          "cds_end": null,
          "cds_length": 3396,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000956763.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "USP8",
          "gene_hgnc_id": 12631,
          "hgvs_c": "c.397C>A",
          "hgvs_p": "p.Arg133Arg",
          "transcript": "NM_001128610.3",
          "protein_id": "NP_001122082.1",
          "transcript_support_level": null,
          "aa_start": 133,
          "aa_end": null,
          "aa_length": 1118,
          "cds_start": 397,
          "cds_end": null,
          "cds_length": 3357,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001128610.3"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "USP8",
          "gene_hgnc_id": 12631,
          "hgvs_c": "c.397C>A",
          "hgvs_p": "p.Arg133Arg",
          "transcript": "ENST00000919051.1",
          "protein_id": "ENSP00000589110.1",
          "transcript_support_level": null,
          "aa_start": 133,
          "aa_end": null,
          "aa_length": 1118,
          "cds_start": 397,
          "cds_end": null,
          "cds_length": 3357,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000919051.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "USP8",
          "gene_hgnc_id": 12631,
          "hgvs_c": "c.397C>A",
          "hgvs_p": "p.Arg133Arg",
          "transcript": "ENST00000919052.1",
          "protein_id": "ENSP00000589111.1",
          "transcript_support_level": null,
          "aa_start": 133,
          "aa_end": null,
          "aa_length": 1118,
          "cds_start": 397,
          "cds_end": null,
          "cds_length": 3357,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000919052.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "USP8",
          "gene_hgnc_id": 12631,
          "hgvs_c": "c.397C>A",
          "hgvs_p": "p.Arg133Arg",
          "transcript": "ENST00000919048.1",
          "protein_id": "ENSP00000589107.1",
          "transcript_support_level": null,
          "aa_start": 133,
          "aa_end": null,
          "aa_length": 1117,
          "cds_start": 397,
          "cds_end": null,
          "cds_length": 3354,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000919048.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "USP8",
          "gene_hgnc_id": 12631,
          "hgvs_c": "c.397C>A",
          "hgvs_p": "p.Arg133Arg",
          "transcript": "ENST00000919050.1",
          "protein_id": "ENSP00000589109.1",
          "transcript_support_level": null,
          "aa_start": 133,
          "aa_end": null,
          "aa_length": 1117,
          "cds_start": 397,
          "cds_end": null,
          "cds_length": 3354,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000919050.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "USP8",
          "gene_hgnc_id": 12631,
          "hgvs_c": "c.397C>A",
          "hgvs_p": "p.Arg133Arg",
          "transcript": "ENST00000882495.1",
          "protein_id": "ENSP00000552554.1",
          "transcript_support_level": null,
          "aa_start": 133,
          "aa_end": null,
          "aa_length": 1091,
          "cds_start": 397,
          "cds_end": null,
          "cds_length": 3276,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000882495.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "USP8",
          "gene_hgnc_id": 12631,
          "hgvs_c": "c.397C>A",
          "hgvs_p": "p.Arg133Arg",
          "transcript": "ENST00000919049.1",
          "protein_id": "ENSP00000589108.1",
          "transcript_support_level": null,
          "aa_start": 133,
          "aa_end": null,
          "aa_length": 1088,
          "cds_start": 397,
          "cds_end": null,
          "cds_length": 3267,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000919049.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "USP8",
          "gene_hgnc_id": 12631,
          "hgvs_c": "c.397C>A",
          "hgvs_p": "p.Arg133Arg",
          "transcript": "ENST00000956762.1",
          "protein_id": "ENSP00000626821.1",
          "transcript_support_level": null,
          "aa_start": 133,
          "aa_end": null,
          "aa_length": 1088,
          "cds_start": 397,
          "cds_end": null,
          "cds_length": 3267,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000956762.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "USP8",
          "gene_hgnc_id": 12631,
          "hgvs_c": "c.166C>A",
          "hgvs_p": "p.Arg56Arg",
          "transcript": "ENST00000919053.1",
          "protein_id": "ENSP00000589112.1",
          "transcript_support_level": null,
          "aa_start": 56,
          "aa_end": null,
          "aa_length": 1041,
          "cds_start": 166,
          "cds_end": null,
          "cds_length": 3126,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000919053.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "USP8",
          "gene_hgnc_id": 12631,
          "hgvs_c": "c.166C>A",
          "hgvs_p": "p.Arg56Arg",
          "transcript": "ENST00000956760.1",
          "protein_id": "ENSP00000626819.1",
          "transcript_support_level": null,
          "aa_start": 56,
          "aa_end": null,
          "aa_length": 1041,
          "cds_start": 166,
          "cds_end": null,
          "cds_length": 3126,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000956760.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "USP8",
          "gene_hgnc_id": 12631,
          "hgvs_c": "c.166C>A",
          "hgvs_p": "p.Arg56Arg",
          "transcript": "NM_001283049.2",
          "protein_id": "NP_001269978.1",
          "transcript_support_level": null,
          "aa_start": 56,
          "aa_end": null,
          "aa_length": 1012,
          "cds_start": 166,
          "cds_end": null,
          "cds_length": 3039,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001283049.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "USP8",
          "gene_hgnc_id": 12631,
          "hgvs_c": "c.166C>A",
          "hgvs_p": "p.Arg56Arg",
          "transcript": "ENST00000425032.7",
          "protein_id": "ENSP00000412682.3",
          "transcript_support_level": 2,
          "aa_start": 56,
          "aa_end": null,
          "aa_length": 1012,
          "cds_start": 166,
          "cds_end": null,
          "cds_length": 3039,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000425032.7"
        },
        {
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      "bayesdelnoaf_score": -0.25,
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      "acmg_classification": "Likely_benign",
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          "verdict": "Likely_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
}