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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: 3-12433979-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=12433979&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 12433979,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_015869.5",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.1262T>C",
          "hgvs_p": "p.Leu421Pro",
          "transcript": "NM_138711.6",
          "protein_id": "NP_619725.3",
          "transcript_support_level": null,
          "aa_start": 421,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": 1262,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": 1409,
          "cdna_end": null,
          "cdna_length": 1774,
          "mane_select": "ENST00000651735.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_138711.6"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.1262T>C",
          "hgvs_p": "p.Leu421Pro",
          "transcript": "ENST00000651735.1",
          "protein_id": "ENSP00000498313.1",
          "transcript_support_level": null,
          "aa_start": 421,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": 1262,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": 1409,
          "cdna_end": null,
          "cdna_length": 1774,
          "mane_select": "NM_138711.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000651735.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.1352T>C",
          "hgvs_p": "p.Leu451Pro",
          "transcript": "ENST00000287820.10",
          "protein_id": "ENSP00000287820.6",
          "transcript_support_level": 1,
          "aa_start": 451,
          "aa_end": null,
          "aa_length": 505,
          "cds_start": 1352,
          "cds_end": null,
          "cds_length": 1518,
          "cdna_start": 1473,
          "cdna_end": null,
          "cdna_length": 1850,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000287820.10"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.1262T>C",
          "hgvs_p": "p.Leu421Pro",
          "transcript": "ENST00000397010.7",
          "protein_id": "ENSP00000380205.3",
          "transcript_support_level": 1,
          "aa_start": 421,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": 1262,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": 1652,
          "cdna_end": null,
          "cdna_length": 2017,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000397010.7"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.1262T>C",
          "hgvs_p": "p.Leu421Pro",
          "transcript": "ENST00000397015.7",
          "protein_id": "ENSP00000380210.3",
          "transcript_support_level": 1,
          "aa_start": 421,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": 1262,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": 1407,
          "cdna_end": null,
          "cdna_length": 1772,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000397015.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.*64T>C",
          "hgvs_p": null,
          "transcript": "ENST00000397000.6",
          "protein_id": "ENSP00000380196.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 248,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 747,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1122,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000397000.6"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.1352T>C",
          "hgvs_p": "p.Leu451Pro",
          "transcript": "NM_015869.5",
          "protein_id": "NP_056953.2",
          "transcript_support_level": null,
          "aa_start": 451,
          "aa_end": null,
          "aa_length": 505,
          "cds_start": 1352,
          "cds_end": null,
          "cds_length": 1518,
          "cdna_start": 1528,
          "cdna_end": null,
          "cdna_length": 1893,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_015869.5"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.1316T>C",
          "hgvs_p": "p.Leu439Pro",
          "transcript": "ENST00000942278.1",
          "protein_id": "ENSP00000612337.1",
          "transcript_support_level": null,
          "aa_start": 439,
          "aa_end": null,
          "aa_length": 493,
          "cds_start": 1316,
          "cds_end": null,
          "cds_length": 1482,
          "cdna_start": 1461,
          "cdna_end": null,
          "cdna_length": 1816,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942278.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.1262T>C",
          "hgvs_p": "p.Leu421Pro",
          "transcript": "NM_001354666.3",
          "protein_id": "NP_001341595.2",
          "transcript_support_level": null,
          "aa_start": 421,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": 1262,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": 1652,
          "cdna_end": null,
          "cdna_length": 2017,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001354666.3"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.1262T>C",
          "hgvs_p": "p.Leu421Pro",
          "transcript": "NM_001354667.3",
          "protein_id": "NP_001341596.2",
          "transcript_support_level": null,
          "aa_start": 421,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": 1262,
          "cds_end": null,
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          "cdna_start": 1345,
          "cdna_end": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001354667.3"
        },
        {
          "aa_ref": "L",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.1262T>C",
          "hgvs_p": "p.Leu421Pro",
          "transcript": "NM_001374263.2",
          "protein_id": "NP_001361192.2",
          "transcript_support_level": null,
          "aa_start": 421,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": 1262,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": 1427,
          "cdna_end": null,
          "cdna_length": 1792,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "L",
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          "protein_coding": true,
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          "consequences": [
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          ],
          "exon_rank": 8,
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          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "PPARG",
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          "hgvs_c": "c.1262T>C",
          "hgvs_p": "p.Leu421Pro",
          "transcript": "NM_001374264.2",
          "protein_id": "NP_001361193.2",
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          "cds_start": 1262,
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          "cdna_start": 1406,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.1262T>C",
          "hgvs_p": "p.Leu421Pro",
          "transcript": "NM_005037.7",
          "protein_id": "NP_005028.5",
          "transcript_support_level": null,
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          "cds_start": 1262,
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          "mane_select": null,
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        },
        {
          "aa_ref": "L",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.1262T>C",
          "hgvs_p": "p.Leu421Pro",
          "transcript": "NM_138712.5",
          "protein_id": "NP_619726.3",
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        {
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          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.1262T>C",
          "hgvs_p": "p.Leu421Pro",
          "transcript": "ENST00000309576.11",
          "protein_id": "ENSP00000312472.7",
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          "cdna_length": 1870,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000309576.11"
        },
        {
          "aa_ref": "L",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 9,
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          "exon_count": 9,
          "intron_rank": null,
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          "gene_symbol": "PPARG",
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          "hgvs_c": "c.1262T>C",
          "hgvs_p": "p.Leu421Pro",
          "transcript": "ENST00000397026.7",
          "protein_id": "ENSP00000380221.3",
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        {
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          "exon_rank": 9,
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          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.1262T>C",
          "hgvs_p": "p.Leu421Pro",
          "transcript": "ENST00000643197.2",
          "protein_id": "ENSP00000495840.2",
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        {
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          "gene_symbol": "PPARG",
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        {
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          "gene_symbol": "PPARG",
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          "protein_id": "ENSP00000494873.2",
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "L",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
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          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.1262T>C",
          "hgvs_p": "p.Leu421Pro",
          "transcript": "ENST00000681982.1",
          "protein_id": "ENSP00000508065.1",
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        {
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        {
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          "gene_symbol": "PPARG",
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          "transcript": "ENST00000396999.3",
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          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000396999.3"
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      ],
      "gene_symbol": "PPARG",
      "gene_hgnc_id": 9236,
      "dbsnp": "rs1553653993",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.6274459362030029,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.581,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.9559,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.15,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 2.68,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 5,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,PP2,PP5_Moderate",
      "acmg_by_gene": [
        {
          "score": 5,
          "benign_score": 0,
          "pathogenic_score": 5,
          "criteria": [
            "PM2",
            "PP2",
            "PP5_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_015869.5",
          "gene_symbol": "PPARG",
          "hgnc_id": 9236,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD,AR,SD",
          "hgvs_c": "c.1352T>C",
          "hgvs_p": "p.Leu451Pro"
        }
      ],
      "clinvar_disease": "PPARG-related familial partial lipodystrophy",
      "clinvar_classification": "Likely pathogenic",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LP:1",
      "phenotype_combined": "PPARG-related familial partial lipodystrophy",
      "pathogenicity_classification_combined": "Likely pathogenic",
      "custom_annotations": null
    }
  ],
  "message": null
}
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