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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: 9-129895929-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=129895929&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "message": null,
  "variants": [
    {
      "acmg_by_gene": [
        {
          "benign_score": 8,
          "criteria": [
            "BP4",
            "BP6_Moderate",
            "BP7",
            "BS2"
          ],
          "effects": [
            "synonymous_variant"
          ],
          "gene_symbol": "FNBP1",
          "hgnc_id": 17069,
          "hgvs_c": "c.1839C>T",
          "hgvs_p": "p.Gly613Gly",
          "inheritance_mode": "AD",
          "pathogenic_score": 0,
          "score": -8,
          "transcript": "NM_001438006.1",
          "verdict": "Benign"
        }
      ],
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4,BP6_Moderate,BP7,BS2",
      "acmg_score": -8,
      "allele_count_reference_population": 10,
      "alphamissense_prediction": null,
      "alphamissense_score": null,
      "alt": "A",
      "apogee2_prediction": null,
      "apogee2_score": null,
      "bayesdelnoaf_prediction": "Benign",
      "bayesdelnoaf_score": -0.68,
      "chr": "9",
      "clinvar_classification": "Likely benign",
      "clinvar_disease": "not specified",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "computational_prediction_selected": "Benign",
      "computational_score_selected": 0.2070000022649765,
      "computational_source_selected": "REVEL",
      "consequences": [
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 617,
          "aa_ref": "G",
          "aa_start": 585,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 5420,
          "cdna_start": 1969,
          "cds_end": null,
          "cds_length": 1854,
          "cds_start": 1755,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 17,
          "exon_rank": 16,
          "exon_rank_end": null,
          "feature": "NM_015033.3",
          "gene_hgnc_id": 17069,
          "gene_symbol": "FNBP1",
          "hgvs_c": "c.1755C>T",
          "hgvs_p": "p.Gly585Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "ENST00000446176.7",
          "protein_coding": true,
          "protein_id": "NP_055848.1",
          "strand": false,
          "transcript": "NM_015033.3",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 617,
          "aa_ref": "G",
          "aa_start": 585,
          "biotype": "protein_coding",
          "canonical": true,
          "cdna_end": null,
          "cdna_length": 5420,
          "cdna_start": 1969,
          "cds_end": null,
          "cds_length": 1854,
          "cds_start": 1755,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 17,
          "exon_rank": 16,
          "exon_rank_end": null,
          "feature": "ENST00000446176.7",
          "gene_hgnc_id": 17069,
          "gene_symbol": "FNBP1",
          "hgvs_c": "c.1755C>T",
          "hgvs_p": "p.Gly585Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "NM_015033.3",
          "protein_coding": true,
          "protein_id": "ENSP00000413625.1",
          "strand": false,
          "transcript": "ENST00000446176.7",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 645,
          "aa_ref": "G",
          "aa_start": 613,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 5504,
          "cdna_start": 2053,
          "cds_end": null,
          "cds_length": 1938,
          "cds_start": 1839,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 18,
          "exon_rank": 17,
          "exon_rank_end": null,
          "feature": "NM_001438006.1",
          "gene_hgnc_id": 17069,
          "gene_symbol": "FNBP1",
          "hgvs_c": "c.1839C>T",
          "hgvs_p": "p.Gly613Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001424935.1",
          "strand": false,
          "transcript": "NM_001438006.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 645,
          "aa_ref": "G",
          "aa_start": 613,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 5504,
          "cdna_start": 2053,
          "cds_end": null,
          "cds_length": 1938,
          "cds_start": 1839,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 18,
          "exon_rank": 17,
          "exon_rank_end": null,
          "feature": "ENST00000699492.1",
          "gene_hgnc_id": 17069,
          "gene_symbol": "FNBP1",
          "hgvs_c": "c.1839C>T",
          "hgvs_p": "p.Gly613Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000514403.1",
          "strand": false,
          "transcript": "ENST00000699492.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 644,
          "aa_ref": "G",
          "aa_start": 608,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2706,
          "cdna_start": 2038,
          "cds_end": null,
          "cds_length": 1935,
          "cds_start": 1824,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 16,
          "exon_rank": 16,
          "exon_rank_end": null,
          "feature": "NM_001439039.1",
          "gene_hgnc_id": 17069,
          "gene_symbol": "FNBP1",
          "hgvs_c": "c.1824C>T",
          "hgvs_p": "p.Gly608Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001425968.1",
          "strand": false,
          "transcript": "NM_001439039.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 622,
          "aa_ref": "G",
          "aa_start": 586,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2640,
          "cdna_start": 1972,
          "cds_end": null,
          "cds_length": 1869,
          "cds_start": 1758,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 16,
          "exon_rank": 16,
          "exon_rank_end": null,
          "feature": "NM_001438159.1",
          "gene_hgnc_id": 17069,
          "gene_symbol": "FNBP1",
          "hgvs_c": "c.1758C>T",
          "hgvs_p": "p.Gly586Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001425088.1",
          "strand": false,
          "transcript": "NM_001438159.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 622,
          "aa_ref": "G",
          "aa_start": 586,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2618,
          "cdna_start": 1950,
          "cds_end": null,
          "cds_length": 1869,
          "cds_start": 1758,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 16,
          "exon_rank": 16,
          "exon_rank_end": null,
          "feature": "ENST00000703559.1",
          "gene_hgnc_id": 17069,
          "gene_symbol": "FNBP1",
          "hgvs_c": "c.1758C>T",
          "hgvs_p": "p.Gly586Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000515375.1",
          "strand": false,
          "transcript": "ENST00000703559.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 621,
          "aa_ref": "G",
          "aa_start": 585,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2637,
          "cdna_start": 1969,
          "cds_end": null,
          "cds_length": 1866,
          "cds_start": 1755,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 16,
          "exon_rank": 16,
          "exon_rank_end": null,
          "feature": "NM_001438160.1",
          "gene_hgnc_id": 17069,
          "gene_symbol": "FNBP1",
          "hgvs_c": "c.1755C>T",
          "hgvs_p": "p.Gly585Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001425089.1",
          "strand": false,
          "transcript": "NM_001438160.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 618,
          "aa_ref": "G",
          "aa_start": 586,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3321,
          "cdna_start": 1945,
          "cds_end": null,
          "cds_length": 1857,
          "cds_start": 1758,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 17,
          "exon_rank": 16,
          "exon_rank_end": null,
          "feature": "ENST00000946016.1",
          "gene_hgnc_id": 17069,
          "gene_symbol": "FNBP1",
          "hgvs_c": "c.1758C>T",
          "hgvs_p": "p.Gly586Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000616075.1",
          "strand": false,
          "transcript": "ENST00000946016.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 617,
          "aa_ref": "G",
          "aa_start": 581,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2625,
          "cdna_start": 1957,
          "cds_end": null,
          "cds_length": 1854,
          "cds_start": 1743,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 15,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "NM_001438161.1",
          "gene_hgnc_id": 17069,
          "gene_symbol": "FNBP1",
          "hgvs_c": "c.1743C>T",
          "hgvs_p": "p.Gly581Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001425090.1",
          "strand": false,
          "transcript": "NM_001438161.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 616,
          "aa_ref": "G",
          "aa_start": 580,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2622,
          "cdna_start": 1954,
          "cds_end": null,
          "cds_length": 1851,
          "cds_start": 1740,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 15,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "NM_001439040.1",
          "gene_hgnc_id": 17069,
          "gene_symbol": "FNBP1",
          "hgvs_c": "c.1740C>T",
          "hgvs_p": "p.Gly580Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001425969.1",
          "strand": false,
          "transcript": "NM_001439040.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 616,
          "aa_ref": "G",
          "aa_start": 580,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2575,
          "cdna_start": 1927,
          "cds_end": null,
          "cds_length": 1851,
          "cds_start": 1740,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 15,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "ENST00000703532.1",
          "gene_hgnc_id": 17069,
          "gene_symbol": "FNBP1",
          "hgvs_c": "c.1740C>T",
          "hgvs_p": "p.Gly580Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000515358.1",
          "strand": false,
          "transcript": "ENST00000703532.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 613,
          "aa_ref": "G",
          "aa_start": 584,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2040,
          "cdna_start": 1949,
          "cds_end": null,
          "cds_length": 1843,
          "cds_start": 1752,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 17,
          "exon_rank": 17,
          "exon_rank_end": null,
          "feature": "ENST00000703560.1",
          "gene_hgnc_id": 17069,
          "gene_symbol": "FNBP1",
          "hgvs_c": "c.1752C>T",
          "hgvs_p": "p.Gly584Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000515376.1",
          "strand": false,
          "transcript": "ENST00000703560.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 613,
          "aa_ref": "G",
          "aa_start": 581,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 5408,
          "cdna_start": 1957,
          "cds_end": null,
          "cds_length": 1842,
          "cds_start": 1743,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 16,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "NM_001439041.1",
          "gene_hgnc_id": 17069,
          "gene_symbol": "FNBP1",
          "hgvs_c": "c.1743C>T",
          "hgvs_p": "p.Gly581Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001425970.1",
          "strand": false,
          "transcript": "NM_001439041.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 613,
          "aa_ref": "G",
          "aa_start": 581,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 5408,
          "cdna_start": 1957,
          "cds_end": null,
          "cds_length": 1842,
          "cds_start": 1743,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 16,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "ENST00000907742.1",
          "gene_hgnc_id": 17069,
          "gene_symbol": "FNBP1",
          "hgvs_c": "c.1743C>T",
          "hgvs_p": "p.Gly581Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000577801.1",
          "strand": false,
          "transcript": "ENST00000907742.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 612,
          "aa_ref": "G",
          "aa_start": 580,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 5405,
          "cdna_start": 1954,
          "cds_end": null,
          "cds_length": 1839,
          "cds_start": 1740,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 16,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "NM_001439042.1",
          "gene_hgnc_id": 17069,
          "gene_symbol": "FNBP1",
          "hgvs_c": "c.1740C>T",
          "hgvs_p": "p.Gly580Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001425971.1",
          "strand": false,
          "transcript": "NM_001439042.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 612,
          "aa_ref": "G",
          "aa_start": 580,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 5462,
          "cdna_start": 2003,
          "cds_end": null,
          "cds_length": 1839,
          "cds_start": 1740,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 16,
          "exon_rank": 15,
          "exon_rank_end": null,
          "feature": "ENST00000907739.1",
          "gene_hgnc_id": 17069,
          "gene_symbol": "FNBP1",
          "hgvs_c": "c.1740C>T",
          "hgvs_p": "p.Gly580Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000577798.1",
          "strand": false,
          "transcript": "ENST00000907739.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 611,
          "aa_ref": "G",
          "aa_start": 575,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2607,
          "cdna_start": 1939,
          "cds_end": null,
          "cds_length": 1836,
          "cds_start": 1725,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 16,
          "exon_rank": 16,
          "exon_rank_end": null,
          "feature": "NM_001439043.1",
          "gene_hgnc_id": 17069,
          "gene_symbol": "FNBP1",
          "hgvs_c": "c.1725C>T",
          "hgvs_p": "p.Gly575Gly",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001425972.1",
          "strand": false,
          "transcript": "NM_001439043.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "G",
          "aa_end": null,
          "aa_length": 608,
          "aa_ref": "G",
          "aa_start": 576,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3334,
          "cdna_start": 1958,
          "cds_end": null,
          "cds_length": 1827,
          "cds_start": 1728,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 17,
          "exon_rank": 16,
          "exon_rank_end": null,
          "feature": "ENST00000946015.1",
          "gene_hgnc_id": 17069,
          "gene_symbol": "FNBP1",
          "hgvs_c": "c.1728C>T",
          "hgvs_p": "p.Gly576Gly",
          "intron_rank": null,
          "intron_rank_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.