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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: 17-16382552-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=16382552&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "message": null,
  "variants": [
    {
      "acmg_by_gene": [
        {
          "benign_score": 13,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BP7"
          ],
          "effects": [
            "synonymous_variant"
          ],
          "gene_symbol": "UBB",
          "hgnc_id": 12463,
          "hgvs_c": "c.645A>G",
          "hgvs_p": "p.Lys215Lys",
          "inheritance_mode": "AD",
          "pathogenic_score": 0,
          "score": -13,
          "transcript": "NM_018955.4",
          "verdict": "Benign"
        },
        {
          "benign_score": 12,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP6_Very_Strong"
          ],
          "effects": [
            "intron_variant"
          ],
          "gene_symbol": "ENSG00000265401",
          "hgnc_id": 58390,
          "hgvs_c": "n.102+16T>C",
          "hgvs_p": null,
          "inheritance_mode": "",
          "pathogenic_score": 2,
          "score": -10,
          "transcript": "ENST00000583934.1",
          "verdict": "Benign"
        }
      ],
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
      "acmg_score": -13,
      "allele_count_reference_population": 2297,
      "alphamissense_prediction": null,
      "alphamissense_score": null,
      "alt": "G",
      "apogee2_prediction": null,
      "apogee2_score": null,
      "bayesdelnoaf_prediction": "Benign",
      "bayesdelnoaf_score": -0.68,
      "chr": "17",
      "clinvar_classification": "Likely benign",
      "clinvar_disease": "not provided",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "LB:2",
      "computational_prediction_selected": "Benign",
      "computational_score_selected": -0.6800000071525574,
      "computational_source_selected": "BayesDel_noAF",
      "consequences": [
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 229,
          "aa_ref": "K",
          "aa_start": 215,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 933,
          "cdna_start": 745,
          "cds_end": null,
          "cds_length": 690,
          "cds_start": 645,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 2,
          "exon_rank": 2,
          "exon_rank_end": null,
          "feature": "NM_018955.4",
          "gene_hgnc_id": 12463,
          "gene_symbol": "UBB",
          "hgvs_c": "c.645A>G",
          "hgvs_p": "p.Lys215Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "ENST00000302182.8",
          "protein_coding": true,
          "protein_id": "NP_061828.1",
          "strand": true,
          "transcript": "NM_018955.4",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 229,
          "aa_ref": "K",
          "aa_start": 215,
          "biotype": "protein_coding",
          "canonical": true,
          "cdna_end": null,
          "cdna_length": 933,
          "cdna_start": 745,
          "cds_end": null,
          "cds_length": 690,
          "cds_start": 645,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 2,
          "exon_rank": 2,
          "exon_rank_end": null,
          "feature": "ENST00000302182.8",
          "gene_hgnc_id": 12463,
          "gene_symbol": "UBB",
          "hgvs_c": "c.645A>G",
          "hgvs_p": "p.Lys215Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "NM_018955.4",
          "protein_coding": true,
          "protein_id": "ENSP00000304697.3",
          "strand": true,
          "transcript": "ENST00000302182.8",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 229,
          "aa_ref": "K",
          "aa_start": 215,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1097,
          "cdna_start": 909,
          "cds_end": null,
          "cds_length": 690,
          "cds_start": 645,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 2,
          "exon_rank": 2,
          "exon_rank_end": null,
          "feature": "NM_001281716.2",
          "gene_hgnc_id": 12463,
          "gene_symbol": "UBB",
          "hgvs_c": "c.645A>G",
          "hgvs_p": "p.Lys215Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001268645.1",
          "strand": true,
          "transcript": "NM_001281716.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 229,
          "aa_ref": "K",
          "aa_start": 215,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1059,
          "cdna_start": 866,
          "cds_end": null,
          "cds_length": 690,
          "cds_start": 645,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 2,
          "exon_rank": 2,
          "exon_rank_end": null,
          "feature": "NM_001281717.1",
          "gene_hgnc_id": 12463,
          "gene_symbol": "UBB",
          "hgvs_c": "c.645A>G",
          "hgvs_p": "p.Lys215Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001268646.1",
          "strand": true,
          "transcript": "NM_001281717.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 229,
          "aa_ref": "K",
          "aa_start": 215,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1019,
          "cdna_start": 826,
          "cds_end": null,
          "cds_length": 690,
          "cds_start": 645,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 2,
          "exon_rank": 2,
          "exon_rank_end": null,
          "feature": "NM_001281718.1",
          "gene_hgnc_id": 12463,
          "gene_symbol": "UBB",
          "hgvs_c": "c.645A>G",
          "hgvs_p": "p.Lys215Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001268647.1",
          "strand": true,
          "transcript": "NM_001281718.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 229,
          "aa_ref": "K",
          "aa_start": 215,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1017,
          "cdna_start": 824,
          "cds_end": null,
          "cds_length": 690,
          "cds_start": 645,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 2,
          "exon_rank": 2,
          "exon_rank_end": null,
          "feature": "NM_001281719.1",
          "gene_hgnc_id": 12463,
          "gene_symbol": "UBB",
          "hgvs_c": "c.645A>G",
          "hgvs_p": "p.Lys215Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001268648.1",
          "strand": true,
          "transcript": "NM_001281719.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 229,
          "aa_ref": "K",
          "aa_start": 215,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 864,
          "cdna_start": 676,
          "cds_end": null,
          "cds_length": 690,
          "cds_start": 645,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 2,
          "exon_rank": 2,
          "exon_rank_end": null,
          "feature": "NM_001281720.2",
          "gene_hgnc_id": 12463,
          "gene_symbol": "UBB",
          "hgvs_c": "c.645A>G",
          "hgvs_p": "p.Lys215Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001268649.1",
          "strand": true,
          "transcript": "NM_001281720.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 229,
          "aa_ref": "K",
          "aa_start": 215,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1014,
          "cdna_start": 826,
          "cds_end": null,
          "cds_length": 690,
          "cds_start": 645,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 2,
          "exon_rank": 2,
          "exon_rank_end": null,
          "feature": "ENST00000395837.1",
          "gene_hgnc_id": 12463,
          "gene_symbol": "UBB",
          "hgvs_c": "c.645A>G",
          "hgvs_p": "p.Lys215Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000379178.1",
          "strand": true,
          "transcript": "ENST00000395837.1",
          "transcript_support_level": 2
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 229,
          "aa_ref": "K",
          "aa_start": 215,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1012,
          "cdna_start": 824,
          "cds_end": null,
          "cds_length": 690,
          "cds_start": 645,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 2,
          "exon_rank": 2,
          "exon_rank_end": null,
          "feature": "ENST00000395839.5",
          "gene_hgnc_id": 12463,
          "gene_symbol": "UBB",
          "hgvs_c": "c.645A>G",
          "hgvs_p": "p.Lys215Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000379180.1",
          "strand": true,
          "transcript": "ENST00000395839.5",
          "transcript_support_level": 2
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 229,
          "aa_ref": "K",
          "aa_start": 215,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1056,
          "cdna_start": 866,
          "cds_end": null,
          "cds_length": 690,
          "cds_start": 645,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 2,
          "exon_rank": 2,
          "exon_rank_end": null,
          "feature": "ENST00000614404.1",
          "gene_hgnc_id": 12463,
          "gene_symbol": "UBB",
          "hgvs_c": "c.645A>G",
          "hgvs_p": "p.Lys215Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000478771.1",
          "strand": true,
          "transcript": "ENST00000614404.1",
          "transcript_support_level": 3
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 229,
          "aa_ref": "K",
          "aa_start": 215,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 996,
          "cdna_start": 805,
          "cds_end": null,
          "cds_length": 690,
          "cds_start": 645,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 2,
          "exon_rank": 2,
          "exon_rank_end": null,
          "feature": "ENST00000879806.1",
          "gene_hgnc_id": 12463,
          "gene_symbol": "UBB",
          "hgvs_c": "c.645A>G",
          "hgvs_p": "p.Lys215Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000549865.1",
          "strand": true,
          "transcript": "ENST00000879806.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 229,
          "aa_ref": "K",
          "aa_start": 215,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 869,
          "cdna_start": 676,
          "cds_end": null,
          "cds_length": 690,
          "cds_start": 645,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 2,
          "exon_rank": 2,
          "exon_rank_end": null,
          "feature": "ENST00000879807.1",
          "gene_hgnc_id": 12463,
          "gene_symbol": "UBB",
          "hgvs_c": "c.645A>G",
          "hgvs_p": "p.Lys215Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000549866.1",
          "strand": true,
          "transcript": "ENST00000879807.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 229,
          "aa_ref": "K",
          "aa_start": 215,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1030,
          "cdna_start": 838,
          "cds_end": null,
          "cds_length": 690,
          "cds_start": 645,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 3,
          "exon_rank": 3,
          "exon_rank_end": null,
          "feature": "ENST00000879808.1",
          "gene_hgnc_id": 12463,
          "gene_symbol": "UBB",
          "hgvs_c": "c.645A>G",
          "hgvs_p": "p.Lys215Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000549867.1",
          "strand": true,
          "transcript": "ENST00000879808.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 229,
          "aa_ref": "K",
          "aa_start": 215,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1009,
          "cdna_start": 820,
          "cds_end": null,
          "cds_length": 690,
          "cds_start": 645,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 3,
          "exon_rank": 3,
          "exon_rank_end": null,
          "feature": "ENST00000879809.1",
          "gene_hgnc_id": 12463,
          "gene_symbol": "UBB",
          "hgvs_c": "c.645A>G",
          "hgvs_p": "p.Lys215Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000549868.1",
          "strand": true,
          "transcript": "ENST00000879809.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 229,
          "aa_ref": "K",
          "aa_start": 215,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1103,
          "cdna_start": 911,
          "cds_end": null,
          "cds_length": 690,
          "cds_start": 645,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 2,
          "exon_rank": 2,
          "exon_rank_end": null,
          "feature": "ENST00000879810.1",
          "gene_hgnc_id": 12463,
          "gene_symbol": "UBB",
          "hgvs_c": "c.645A>G",
          "hgvs_p": "p.Lys215Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000549869.1",
          "strand": true,
          "transcript": "ENST00000879810.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 229,
          "aa_ref": "K",
          "aa_start": 215,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 870,
          "cdna_start": 679,
          "cds_end": null,
          "cds_length": 690,
          "cds_start": 645,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 2,
          "exon_rank": 2,
          "exon_rank_end": null,
          "feature": "ENST00000879811.1",
          "gene_hgnc_id": 12463,
          "gene_symbol": "UBB",
          "hgvs_c": "c.645A>G",
          "hgvs_p": "p.Lys215Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000549870.1",
          "strand": true,
          "transcript": "ENST00000879811.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 229,
          "aa_ref": "K",
          "aa_start": 215,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 887,
          "cdna_start": 700,
          "cds_end": null,
          "cds_length": 690,
          "cds_start": 645,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 2,
          "exon_rank": 2,
          "exon_rank_end": null,
          "feature": "ENST00000879812.1",
          "gene_hgnc_id": 12463,
          "gene_symbol": "UBB",
          "hgvs_c": "c.645A>G",
          "hgvs_p": "p.Lys215Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000549871.1",
          "strand": true,
          "transcript": "ENST00000879812.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 229,
          "aa_ref": "K",
          "aa_start": 215,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1234,
          "cdna_start": 1046,
          "cds_end": null,
          "cds_length": 690,
          "cds_start": 645,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 3,
          "exon_rank": 3,
          "exon_rank_end": null,
          "feature": "ENST00000915770.1",
          "gene_hgnc_id": 12463,
          "gene_symbol": "UBB",
          "hgvs_c": "c.645A>G",
          "hgvs_p": "p.Lys215Lys",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000585829.1",
          "strand": true,
          "transcript": "ENST00000915770.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "K",
          "aa_end": null,
          "aa_length": 229,
          "aa_ref": "K",
          "aa_start": 215,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
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}
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.