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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: 15-82759372-CAT-GAC (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=82759372&ref=CAT&alt=GAC&genome=hg38&allGenes=true"

API Response

json
{
  "message": null,
  "variants": [
    {
      "acmg_by_gene": [
        {
          "benign_score": 0,
          "criteria": [],
          "effects": [
            "missense_variant"
          ],
          "gene_symbol": "FSD2",
          "hgnc_id": 18024,
          "hgvs_c": "c.2224_2226delATGinsGTC",
          "hgvs_p": "p.Met742Val",
          "inheritance_mode": "AR",
          "pathogenic_score": 0,
          "score": 0,
          "transcript": "NM_001007122.4",
          "verdict": "Uncertain_significance"
        },
        {
          "benign_score": 0,
          "criteria": [],
          "effects": [
            "intron_variant"
          ],
          "gene_symbol": "SNHG21",
          "hgnc_id": 50284,
          "hgvs_c": "n.434+4588_434+4590delCATinsGAC",
          "hgvs_p": null,
          "inheritance_mode": "",
          "pathogenic_score": 0,
          "score": 0,
          "transcript": "ENST00000834480.1",
          "verdict": "Uncertain_significance"
        }
      ],
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "",
      "acmg_score": 0,
      "allele_count_reference_population": 0,
      "alphamissense_prediction": null,
      "alphamissense_score": null,
      "alt": "GAC",
      "apogee2_prediction": null,
      "apogee2_score": null,
      "bayesdelnoaf_prediction": null,
      "bayesdelnoaf_score": null,
      "chr": "15",
      "clinvar_classification": "",
      "clinvar_disease": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "computational_prediction_selected": null,
      "computational_score_selected": null,
      "computational_source_selected": null,
      "consequences": [
        {
          "aa_alt": "V",
          "aa_end": null,
          "aa_length": 749,
          "aa_ref": "M",
          "aa_start": 742,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 6418,
          "cdna_start": 2408,
          "cds_end": null,
          "cds_length": 2250,
          "cds_start": 2224,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 13,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001007122.4",
          "gene_hgnc_id": 18024,
          "gene_symbol": "FSD2",
          "hgvs_c": "c.2224_2226delATGinsGTC",
          "hgvs_p": "p.Met742Val",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "ENST00000334574.12",
          "protein_coding": true,
          "protein_id": "NP_001007123.1",
          "strand": false,
          "transcript": "NM_001007122.4",
          "transcript_support_level": null
        },
        {
          "aa_alt": "V",
          "aa_end": null,
          "aa_length": 749,
          "aa_ref": "M",
          "aa_start": 742,
          "biotype": "protein_coding",
          "canonical": true,
          "cdna_end": null,
          "cdna_length": 6418,
          "cdna_start": 2408,
          "cds_end": null,
          "cds_length": 2250,
          "cds_start": 2224,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 13,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000334574.12",
          "gene_hgnc_id": 18024,
          "gene_symbol": "FSD2",
          "hgvs_c": "c.2224_2226delATGinsGTC",
          "hgvs_p": "p.Met742Val",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "NM_001007122.4",
          "protein_coding": true,
          "protein_id": "ENSP00000335651.8",
          "strand": false,
          "transcript": "ENST00000334574.12",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "V",
          "aa_end": null,
          "aa_length": 704,
          "aa_ref": "M",
          "aa_start": 697,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2356,
          "cdna_start": 2258,
          "cds_end": null,
          "cds_length": 2115,
          "cds_start": 2089,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 12,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000541889.1",
          "gene_hgnc_id": 18024,
          "gene_symbol": "FSD2",
          "hgvs_c": "c.2089_2091delATGinsGTC",
          "hgvs_p": "p.Met697Val",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000444078.1",
          "strand": false,
          "transcript": "ENST00000541889.1",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "V",
          "aa_end": null,
          "aa_length": 749,
          "aa_ref": "M",
          "aa_start": 742,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3213,
          "cdna_start": 2475,
          "cds_end": null,
          "cds_length": 2250,
          "cds_start": 2224,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 14,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000961201.1",
          "gene_hgnc_id": 18024,
          "gene_symbol": "FSD2",
          "hgvs_c": "c.2224_2226delATGinsGTC",
          "hgvs_p": "p.Met742Val",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000631260.1",
          "strand": false,
          "transcript": "ENST00000961201.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "V",
          "aa_end": null,
          "aa_length": 739,
          "aa_ref": "M",
          "aa_start": 732,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3167,
          "cdna_start": 2420,
          "cds_end": null,
          "cds_length": 2220,
          "cds_start": 2194,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 13,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000961199.1",
          "gene_hgnc_id": 18024,
          "gene_symbol": "FSD2",
          "hgvs_c": "c.2194_2196delATGinsGTC",
          "hgvs_p": "p.Met732Val",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000631258.1",
          "strand": false,
          "transcript": "ENST00000961199.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "V",
          "aa_end": null,
          "aa_length": 735,
          "aa_ref": "M",
          "aa_start": 728,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3106,
          "cdna_start": 2366,
          "cds_end": null,
          "cds_length": 2208,
          "cds_start": 2182,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 13,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000961203.1",
          "gene_hgnc_id": 18024,
          "gene_symbol": "FSD2",
          "hgvs_c": "c.2182_2184delATGinsGTC",
          "hgvs_p": "p.Met728Val",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000631262.1",
          "strand": false,
          "transcript": "ENST00000961203.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "V",
          "aa_end": null,
          "aa_length": 710,
          "aa_ref": "M",
          "aa_start": 703,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3029,
          "cdna_start": 2291,
          "cds_end": null,
          "cds_length": 2133,
          "cds_start": 2107,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 12,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000961204.1",
          "gene_hgnc_id": 18024,
          "gene_symbol": "FSD2",
          "hgvs_c": "c.2107_2109delATGinsGTC",
          "hgvs_p": "p.Met703Val",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000631263.1",
          "strand": false,
          "transcript": "ENST00000961204.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "V",
          "aa_end": null,
          "aa_length": 708,
          "aa_ref": "M",
          "aa_start": 701,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3039,
          "cdna_start": 2301,
          "cds_end": null,
          "cds_length": 2127,
          "cds_start": 2101,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 12,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000961202.1",
          "gene_hgnc_id": 18024,
          "gene_symbol": "FSD2",
          "hgvs_c": "c.2101_2103delATGinsGTC",
          "hgvs_p": "p.Met701Val",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000631261.1",
          "strand": false,
          "transcript": "ENST00000961202.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "V",
          "aa_end": null,
          "aa_length": 704,
          "aa_ref": "M",
          "aa_start": 697,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 6400,
          "cdna_start": 2390,
          "cds_end": null,
          "cds_length": 2115,
          "cds_start": 2089,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 13,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001281805.2",
          "gene_hgnc_id": 18024,
          "gene_symbol": "FSD2",
          "hgvs_c": "c.2089_2091delATGinsGTC",
          "hgvs_p": "p.Met697Val",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001268734.1",
          "strand": false,
          "transcript": "NM_001281805.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "V",
          "aa_end": null,
          "aa_length": 704,
          "aa_ref": "M",
          "aa_start": 697,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 6283,
          "cdna_start": 2273,
          "cds_end": null,
          "cds_length": 2115,
          "cds_start": 2089,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 12,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001281806.2",
          "gene_hgnc_id": 18024,
          "gene_symbol": "FSD2",
          "hgvs_c": "c.2089_2091delATGinsGTC",
          "hgvs_p": "p.Met697Val",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001268735.1",
          "strand": false,
          "transcript": "NM_001281806.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "V",
          "aa_end": null,
          "aa_length": 704,
          "aa_ref": "M",
          "aa_start": 697,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3102,
          "cdna_start": 2360,
          "cds_end": null,
          "cds_length": 2115,
          "cds_start": 2089,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 13,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000961200.1",
          "gene_hgnc_id": 18024,
          "gene_symbol": "FSD2",
          "hgvs_c": "c.2089_2091delATGinsGTC",
          "hgvs_p": "p.Met697Val",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000631259.1",
          "strand": false,
          "transcript": "ENST00000961200.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "V",
          "aa_end": null,
          "aa_length": 694,
          "aa_ref": "M",
          "aa_start": 687,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2979,
          "cdna_start": 2243,
          "cds_end": null,
          "cds_length": 2085,
          "cds_start": 2059,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 12,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000961205.1",
          "gene_hgnc_id": 18024,
          "gene_symbol": "FSD2",
          "hgvs_c": "c.2059_2061delATGinsGTC",
          "hgvs_p": "p.Met687Val",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000631264.1",
          "strand": false,
          "transcript": "ENST00000961205.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "V",
          "aa_end": null,
          "aa_length": 672,
          "aa_ref": "M",
          "aa_start": 665,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2922,
          "cdna_start": 2183,
          "cds_end": null,
          "cds_length": 2019,
          "cds_start": 1993,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 12,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000878624.1",
          "gene_hgnc_id": 18024,
          "gene_symbol": "FSD2",
          "hgvs_c": "c.1993_1995delATGinsGTC",
          "hgvs_p": "p.Met665Val",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000548683.1",
          "strand": false,
          "transcript": "ENST00000878624.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "V",
          "aa_end": null,
          "aa_length": 652,
          "aa_ref": "M",
          "aa_start": 645,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2862,
          "cdna_start": 2123,
          "cds_end": null,
          "cds_length": 1959,
          "cds_start": 1933,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 11,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000878625.1",
          "gene_hgnc_id": 18024,
          "gene_symbol": "FSD2",
          "hgvs_c": "c.1933_1935delATGinsGTC",
          "hgvs_p": "p.Met645Val",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000548684.1",
          "strand": false,
          "transcript": "ENST00000878625.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "V",
          "aa_end": null,
          "aa_length": 627,
          "aa_ref": "M",
          "aa_start": 620,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2779,
          "cdna_start": 2040,
          "cds_end": null,
          "cds_length": 1884,
          "cds_start": 1858,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 11,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000878626.1",
          "gene_hgnc_id": 18024,
          "gene_symbol": "FSD2",
          "hgvs_c": "c.1858_1860delATGinsGTC",
          "hgvs_p": "p.Met620Val",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000548685.1",
          "strand": false,
          "transcript": "ENST00000878626.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "V",
          "aa_end": null,
          "aa_length": 609,
          "aa_ref": "M",
          "aa_start": 602,
          "biotype": "protein_coding",
          "canonical": false,
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          "cdna_length": 4031,
          "cdna_start": 2030,
          "cds_end": null,
          "cds_length": 1830,
          "cds_start": 1804,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 10,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000961198.1",
          "gene_hgnc_id": 18024,
          "gene_symbol": "FSD2",
          "hgvs_c": "c.1804_1806delATGinsGTC",
          "hgvs_p": "p.Met602Val",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000631257.1",
          "strand": false,
          "transcript": "ENST00000961198.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "V",
          "aa_end": null,
          "aa_length": 575,
          "aa_ref": "M",
          "aa_start": 568,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2075,
          "cdna_start": 1892,
          "cds_end": null,
          "cds_length": 1728,
          "cds_start": 1702,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 10,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000878627.1",
          "gene_hgnc_id": 18024,
          "gene_symbol": "FSD2",
          "hgvs_c": "c.1702_1704delATGinsGTC",
          "hgvs_p": "p.Met568Val",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000548686.1",
          "strand": false,
          "transcript": "ENST00000878627.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "V",
          "aa_end": null,
          "aa_length": 532,
          "aa_ref": "M",
          "aa_start": 525,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1974,
          "cdna_start": 1708,
          "cds_end": null,
          "cds_length": 1599,
          "cds_start": 1573,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 9,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000961206.1",
          "gene_hgnc_id": 18024,
          "gene_symbol": "FSD2",
          "hgvs_c": "c.1573_1575delATGinsGTC",
          "hgvs_p": "p.Met525Val",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000631265.1",
          "strand": false,
          "transcript": "ENST00000961206.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "V",
          "aa_end": null,
          "aa_length": 749,
          "aa_ref": "M",
          "aa_start": 742,
          "biotype": "protein_coding",
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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.