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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: 15-90088703-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=90088703&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "message": null,
  "variants": [
    {
      "acmg_by_gene": [
        {
          "benign_score": 3,
          "criteria": [
            "PM2",
            "BP4_Moderate",
            "BP7"
          ],
          "effects": [
            "synonymous_variant"
          ],
          "gene_symbol": "IDH2",
          "hgnc_id": 5383,
          "hgvs_c": "c.418C>A",
          "hgvs_p": "p.Arg140Arg",
          "inheritance_mode": "AD",
          "pathogenic_score": 2,
          "score": -1,
          "transcript": "NM_002168.4",
          "verdict": "Likely_benign"
        }
      ],
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Moderate,BP7",
      "acmg_score": -1,
      "allele_count_reference_population": 0,
      "alphamissense_prediction": null,
      "alphamissense_score": null,
      "alt": "T",
      "apogee2_prediction": null,
      "apogee2_score": null,
      "bayesdelnoaf_prediction": "Benign",
      "bayesdelnoaf_score": -0.46,
      "chr": "15",
      "clinvar_classification": "",
      "clinvar_disease": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "computational_prediction_selected": "Benign",
      "computational_score_selected": -0.46000000834465027,
      "computational_source_selected": "BayesDel_noAF",
      "consequences": [
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 452,
          "aa_ref": "R",
          "aa_start": 140,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2658,
          "cdna_start": 496,
          "cds_end": null,
          "cds_length": 1359,
          "cds_start": 418,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 11,
          "exon_rank": 4,
          "exon_rank_end": null,
          "feature": "NM_002168.4",
          "gene_hgnc_id": 5383,
          "gene_symbol": "IDH2",
          "hgvs_c": "c.418C>A",
          "hgvs_p": "p.Arg140Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "ENST00000330062.8",
          "protein_coding": true,
          "protein_id": "NP_002159.2",
          "strand": false,
          "transcript": "NM_002168.4",
          "transcript_support_level": null
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 452,
          "aa_ref": "R",
          "aa_start": 140,
          "biotype": "protein_coding",
          "canonical": true,
          "cdna_end": null,
          "cdna_length": 2658,
          "cdna_start": 496,
          "cds_end": null,
          "cds_length": 1359,
          "cds_start": 418,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 11,
          "exon_rank": 4,
          "exon_rank_end": null,
          "feature": "ENST00000330062.8",
          "gene_hgnc_id": 5383,
          "gene_symbol": "IDH2",
          "hgvs_c": "c.418C>A",
          "hgvs_p": "p.Arg140Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "NM_002168.4",
          "protein_coding": true,
          "protein_id": "ENSP00000331897.4",
          "strand": false,
          "transcript": "ENST00000330062.8",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 480,
          "aa_ref": "R",
          "aa_start": 168,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2736,
          "cdna_start": 602,
          "cds_end": null,
          "cds_length": 1443,
          "cds_start": 502,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 12,
          "exon_rank": 5,
          "exon_rank_end": null,
          "feature": "ENST00000864224.1",
          "gene_hgnc_id": 5383,
          "gene_symbol": "IDH2",
          "hgvs_c": "c.502C>A",
          "hgvs_p": "p.Arg168Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000534283.1",
          "strand": false,
          "transcript": "ENST00000864224.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 475,
          "aa_ref": "R",
          "aa_start": 163,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1794,
          "cdna_start": 565,
          "cds_end": null,
          "cds_length": 1428,
          "cds_start": 487,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 12,
          "exon_rank": 5,
          "exon_rank_end": null,
          "feature": "ENST00000864227.1",
          "gene_hgnc_id": 5383,
          "gene_symbol": "IDH2",
          "hgvs_c": "c.487C>A",
          "hgvs_p": "p.Arg163Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000534286.1",
          "strand": false,
          "transcript": "ENST00000864227.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 451,
          "aa_ref": "R",
          "aa_start": 140,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1718,
          "cdna_start": 496,
          "cds_end": null,
          "cds_length": 1356,
          "cds_start": 418,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 11,
          "exon_rank": 4,
          "exon_rank_end": null,
          "feature": "ENST00000864229.1",
          "gene_hgnc_id": 5383,
          "gene_symbol": "IDH2",
          "hgvs_c": "c.418C>A",
          "hgvs_p": "p.Arg140Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000534288.1",
          "strand": false,
          "transcript": "ENST00000864229.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 450,
          "aa_ref": "R",
          "aa_start": 140,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2646,
          "cdna_start": 496,
          "cds_end": null,
          "cds_length": 1353,
          "cds_start": 418,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 11,
          "exon_rank": 4,
          "exon_rank_end": null,
          "feature": "ENST00000864223.1",
          "gene_hgnc_id": 5383,
          "gene_symbol": "IDH2",
          "hgvs_c": "c.418C>A",
          "hgvs_p": "p.Arg140Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000534282.1",
          "strand": false,
          "transcript": "ENST00000864223.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 443,
          "aa_ref": "R",
          "aa_start": 131,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1698,
          "cdna_start": 469,
          "cds_end": null,
          "cds_length": 1332,
          "cds_start": 391,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 11,
          "exon_rank": 4,
          "exon_rank_end": null,
          "feature": "ENST00000864228.1",
          "gene_hgnc_id": 5383,
          "gene_symbol": "IDH2",
          "hgvs_c": "c.391C>A",
          "hgvs_p": "p.Arg131Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000534287.1",
          "strand": false,
          "transcript": "ENST00000864228.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 441,
          "aa_ref": "R",
          "aa_start": 140,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2598,
          "cdna_start": 497,
          "cds_end": null,
          "cds_length": 1326,
          "cds_start": 418,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 11,
          "exon_rank": 4,
          "exon_rank_end": null,
          "feature": "ENST00000864225.1",
          "gene_hgnc_id": 5383,
          "gene_symbol": "IDH2",
          "hgvs_c": "c.418C>A",
          "hgvs_p": "p.Arg140Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000534284.1",
          "strand": false,
          "transcript": "ENST00000864225.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 421,
          "aa_ref": "R",
          "aa_start": 140,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2573,
          "cdna_start": 508,
          "cds_end": null,
          "cds_length": 1266,
          "cds_start": 418,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 10,
          "exon_rank": 4,
          "exon_rank_end": null,
          "feature": "ENST00000864221.1",
          "gene_hgnc_id": 5383,
          "gene_symbol": "IDH2",
          "hgvs_c": "c.418C>A",
          "hgvs_p": "p.Arg140Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000534280.1",
          "strand": false,
          "transcript": "ENST00000864221.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 415,
          "aa_ref": "R",
          "aa_start": 140,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1619,
          "cdna_start": 507,
          "cds_end": null,
          "cds_length": 1248,
          "cds_start": 418,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 11,
          "exon_rank": 4,
          "exon_rank_end": null,
          "feature": "ENST00000948834.1",
          "gene_hgnc_id": 5383,
          "gene_symbol": "IDH2",
          "hgvs_c": "c.418C>A",
          "hgvs_p": "p.Arg140Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000618893.1",
          "strand": false,
          "transcript": "ENST00000948834.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 413,
          "aa_ref": "R",
          "aa_start": 140,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1603,
          "cdna_start": 495,
          "cds_end": null,
          "cds_length": 1242,
          "cds_start": 418,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 10,
          "exon_rank": 4,
          "exon_rank_end": null,
          "feature": "ENST00000948835.1",
          "gene_hgnc_id": 5383,
          "gene_symbol": "IDH2",
          "hgvs_c": "c.418C>A",
          "hgvs_p": "p.Arg140Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000618894.1",
          "strand": false,
          "transcript": "ENST00000948835.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 408,
          "aa_ref": "R",
          "aa_start": 96,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2447,
          "cdna_start": 353,
          "cds_end": null,
          "cds_length": 1227,
          "cds_start": 286,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 10,
          "exon_rank": 3,
          "exon_rank_end": null,
          "feature": "ENST00000864226.1",
          "gene_hgnc_id": 5383,
          "gene_symbol": "IDH2",
          "hgvs_c": "c.286C>A",
          "hgvs_p": "p.Arg96Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000534285.1",
          "strand": false,
          "transcript": "ENST00000864226.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 404,
          "aa_ref": "R",
          "aa_start": 140,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2520,
          "cdna_start": 502,
          "cds_end": null,
          "cds_length": 1215,
          "cds_start": 418,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 10,
          "exon_rank": 4,
          "exon_rank_end": null,
          "feature": "ENST00000864222.1",
          "gene_hgnc_id": 5383,
          "gene_symbol": "IDH2",
          "hgvs_c": "c.418C>A",
          "hgvs_p": "p.Arg140Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000534281.1",
          "strand": false,
          "transcript": "ENST00000864222.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 400,
          "aa_ref": "R",
          "aa_start": 88,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1578,
          "cdna_start": 349,
          "cds_end": null,
          "cds_length": 1203,
          "cds_start": 262,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 11,
          "exon_rank": 4,
          "exon_rank_end": null,
          "feature": "NM_001289910.1",
          "gene_hgnc_id": 5383,
          "gene_symbol": "IDH2",
          "hgvs_c": "c.262C>A",
          "hgvs_p": "p.Arg88Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001276839.1",
          "strand": false,
          "transcript": "NM_001289910.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 400,
          "aa_ref": "R",
          "aa_start": 88,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1453,
          "cdna_start": 423,
          "cds_end": null,
          "cds_length": 1203,
          "cds_start": 262,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 11,
          "exon_rank": 4,
          "exon_rank_end": null,
          "feature": "ENST00000540499.2",
          "gene_hgnc_id": 5383,
          "gene_symbol": "IDH2",
          "hgvs_c": "c.262C>A",
          "hgvs_p": "p.Arg88Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000446147.2",
          "strand": false,
          "transcript": "ENST00000540499.2",
          "transcript_support_level": 2
        },
        {
          "aa_alt": "R",
          "aa_end": null,
          "aa_length": 322,
          "aa_ref": "R",
          "aa_start": 10,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2400,
          "cdna_start": 238,
          "cds_end": null,
          "cds_length": 969,
          "cds_start": 28,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 9,
          "exon_rank": 2,
          "exon_rank_end": null,
          "feature": "NM_001290114.2",
          "gene_hgnc_id": 5383,
          "gene_symbol": "IDH2",
          "hgvs_c": "c.28C>A",
          "hgvs_p": "p.Arg10Arg",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001277043.1",
          "strand": false,
          "transcript": "NM_001290114.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 312,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1278,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 939,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 8,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000559482.5",
          "gene_hgnc_id": 5383,
          "gene_symbol": "IDH2",
          "hgvs_c": "c.208-201C>A",
          "hgvs_p": null,
          "intron_rank": 2,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000453016.1",
          "strand": false,
          "transcript": "ENST00000559482.5",
          "transcript_support_level": 5
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "nonsense_mediated_decay",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1449,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 9,
          "exon_rank": 2,
          "exon_rank_end": null,
          "feature": "ENST00000560061.1",
          "gene_hgnc_id": 5383,
          "gene_symbol": "IDH2",
          "hgvs_c": "n.*43C>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": "ENSP00000453254.1",
          "strand": false,
          "transcript": "ENST00000560061.1",
          "transcript_support_level": 2
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "nonsense_mediated_decay",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1449,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_count": 9,
          "exon_rank": 2,
          "exon_rank_end": null,
          "feature": "ENST00000560061.1",
          "gene_hgnc_id": 5383,
          "gene_symbol": "IDH2",
          "hgvs_c": "n.*43C>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": "ENSP00000453254.1",
          "strand": false,
          "transcript": "ENST00000560061.1",
          "transcript_support_level": 2
        }
      ],
      "custom_annotations": null,
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      "splice_prediction_selected": "Benign",
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      "transcript": "NM_002168.4"
    }
  ]
}
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