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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: 10-28616363-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=28616363&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 28616363,
      "ref": "G",
      "alt": "A",
      "effect": "splice_donor_variant,intron_variant",
      "transcript": "ENST00000354911.9",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1746+1G>A",
          "hgvs_p": null,
          "transcript": "NM_016628.5",
          "protein_id": "NP_057712.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 647,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1944,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5912,
          "mane_select": "ENST00000354911.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1746+1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000354911.9",
          "protein_id": "ENSP00000346986.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 647,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1944,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5912,
          "mane_select": "NM_016628.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1611+1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000375664.8",
          "protein_id": "ENSP00000364816.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 602,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1809,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5924,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "n.3974+1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000345541.6",
          "protein_id": null,
          "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": 4526,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "n.1364+1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000480474.2",
          "protein_id": null,
          "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": 1749,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "n.*1172+1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000628285.3",
          "protein_id": "ENSP00000486994.2",
          "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": 3513,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1734+1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000700325.1",
          "protein_id": "ENSP00000514952.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 643,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1932,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2597,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1734+1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000706612.1",
          "protein_id": "ENSP00000516469.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 643,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1932,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5910,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1617+1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000680735.1",
          "protein_id": "ENSP00000505513.1",
          "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": 5922,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1611+1G>A",
          "hgvs_p": null,
          "transcript": "NM_100264.3",
          "protein_id": "NP_567822.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 602,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1809,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5638,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1611+1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000442148.6",
          "protein_id": "ENSP00000400848.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 602,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1809,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5554,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1611+1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000679398.1",
          "protein_id": "ENSP00000506624.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 602,
          "cds_start": -4,
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          "cds_length": 1809,
          "cdna_start": null,
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          "cdna_length": 5486,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
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          "exon_count": 13,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1611+1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000679428.1",
          "protein_id": "ENSP00000506445.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_length": 5432,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1437+1G>A",
          "hgvs_p": null,
          "transcript": "NM_100486.4",
          "protein_id": "NP_567823.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 544,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "intron_rank": 11,
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          "gene_symbol": "WAC",
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          "hgvs_c": "c.1437+1G>A",
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          "protein_id": "ENSP00000311106.4",
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          "cdna_length": 2839,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1290+1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000375646.5",
          "protein_id": "ENSP00000364797.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 495,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 2176,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "n.*312+1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000414108.6",
          "protein_id": "ENSP00000415645.2",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "strand": true,
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            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 14,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
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          "transcript": "ENST00000420266.6",
          "protein_id": "ENSP00000404758.2",
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          "feature": null
        },
        {
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          "strand": true,
          "consequences": [
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            "intron_variant"
          ],
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          "exon_count": 13,
          "intron_rank": 11,
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          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "n.*527+1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000439676.5",
          "protein_id": "ENSP00000415727.1",
          "transcript_support_level": 5,
          "aa_start": null,
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          "cdna_length": 2762,
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "n.*1172+1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000495268.3",
          "protein_id": "ENSP00000514964.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3385,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
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      "spliceai_max_prediction": "Pathogenic",
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      "acmg_by_gene": [
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      "clinvar_classification": "Likely pathogenic",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LP:1",
      "phenotype_combined": "DeSanto-Shinawi syndrome due to WAC point mutation",
      "pathogenicity_classification_combined": "Likely pathogenic",
      "custom_annotations": null
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  "message": null
}