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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: 3-12351593-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=12351593&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 12351593,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "NM_138711.6",
      "consequences": [
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.1A>G",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000287820.10",
          "protein_id": "ENSP00000287820.6",
          "transcript_support_level": 1,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 505,
          "cds_start": 1,
          "cds_end": null,
          "cds_length": 1518,
          "cdna_start": 122,
          "cdna_end": null,
          "cdna_length": 1850,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "n.122A>G",
          "hgvs_p": null,
          "transcript": "ENST00000477039.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1705,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.-8-28111A>G",
          "hgvs_p": null,
          "transcript": "NM_138711.6",
          "protein_id": "NP_619725.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1774,
          "mane_select": "ENST00000651735.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.-8-28111A>G",
          "hgvs_p": null,
          "transcript": "ENST00000651735.1",
          "protein_id": "ENSP00000498313.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1774,
          "mane_select": "NM_138711.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.-8-28111A>G",
          "hgvs_p": null,
          "transcript": "ENST00000397010.7",
          "protein_id": "ENSP00000380205.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2017,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.-8-28111A>G",
          "hgvs_p": null,
          "transcript": "ENST00000397015.7",
          "protein_id": "ENSP00000380210.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1772,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.-8-28111A>G",
          "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": -4,
          "cds_end": null,
          "cds_length": 747,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1122,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.-8-28111A>G",
          "hgvs_p": null,
          "transcript": "ENST00000455517.6",
          "protein_id": "ENSP00000411931.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 40,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 123,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 428,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "n.99-28111A>G",
          "hgvs_p": null,
          "transcript": "ENST00000497594.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1600,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.1A>G",
          "hgvs_p": "p.Met1?",
          "transcript": "NM_015869.5",
          "protein_id": "NP_056953.2",
          "transcript_support_level": null,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 505,
          "cds_start": 1,
          "cds_end": null,
          "cds_length": 1518,
          "cdna_start": 177,
          "cdna_end": null,
          "cdna_length": 1893,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.1A>G",
          "hgvs_p": "p.Met1?",
          "transcript": "NM_001354668.2",
          "protein_id": "NP_001341597.1",
          "transcript_support_level": null,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 294,
          "cds_start": 1,
          "cds_end": null,
          "cds_length": 885,
          "cdna_start": 177,
          "cdna_end": null,
          "cdna_length": 5339,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.1A>G",
          "hgvs_p": "p.Met1?",
          "transcript": "NM_001374265.1",
          "protein_id": "NP_001361194.1",
          "transcript_support_level": null,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 278,
          "cds_start": 1,
          "cds_end": null,
          "cds_length": 837,
          "cdna_start": 177,
          "cdna_end": null,
          "cdna_length": 1442,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.1A>G",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000683699.1",
          "protein_id": "ENSP00000507823.1",
          "transcript_support_level": null,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 278,
          "cds_start": 1,
          "cds_end": null,
          "cds_length": 837,
          "cdna_start": 94,
          "cdna_end": null,
          "cdna_length": 1177,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "n.1A>G",
          "hgvs_p": null,
          "transcript": "ENST00000397023.5",
          "protein_id": "ENSP00000380218.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2002,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.-8-28111A>G",
          "hgvs_p": null,
          "transcript": "NM_001354666.3",
          "protein_id": "NP_001341595.2",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 475,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": null,
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          "cdna_length": 2017,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.-8-28111A>G",
          "hgvs_p": null,
          "transcript": "NM_001354667.3",
          "protein_id": "NP_001341596.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1710,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.-8-28111A>G",
          "hgvs_p": null,
          "transcript": "NM_001374263.2",
          "protein_id": "NP_001361192.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": -4,
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          "cds_length": 1428,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1792,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.-8-28111A>G",
          "hgvs_p": null,
          "transcript": "NM_001374264.2",
          "protein_id": "NP_001361193.2",
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 1771,
          "mane_select": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.-8-28111A>G",
          "hgvs_p": null,
          "transcript": "NM_005037.7",
          "protein_id": "NP_005028.5",
          "transcript_support_level": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 1782,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.-8-28111A>G",
          "hgvs_p": null,
          "transcript": "NM_138712.5",
          "protein_id": "NP_619726.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": -4,
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          "cds_length": 1428,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1856,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PPARG",
          "gene_hgnc_id": 9236,
          "hgvs_c": "c.-8-28111A>G",
          "hgvs_p": null,
          "transcript": "ENST00000309576.11",
          "protein_id": "ENSP00000312472.7",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": null,
          "cdna_end": null,
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      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.381,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.03,
      "bayesdelnoaf_prediction": "Uncertain_significance",
      "phylop100way_score": 1.723,
      "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": 4,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PP3_Strong",
      "acmg_by_gene": [
        {
          "score": 4,
          "benign_score": 0,
          "pathogenic_score": 4,
          "criteria": [
            "PP3_Strong"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_138711.6",
          "gene_symbol": "PPARG",
          "hgnc_id": 9236,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD,AR",
          "hgvs_c": "c.-8-28111A>G",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "PPARG-related disorder",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "PPARG-related disorder",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}