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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: 6-35421842-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=35421842&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 35421842,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_006238.5",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.308G>A",
          "hgvs_p": "p.Arg103His",
          "transcript": "NM_006238.5",
          "protein_id": "NP_006229.1",
          "transcript_support_level": null,
          "aa_start": 103,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 308,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 617,
          "cdna_end": null,
          "cdna_length": 3734,
          "mane_select": "ENST00000360694.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.308G>A",
          "hgvs_p": "p.Arg103His",
          "transcript": "ENST00000360694.8",
          "protein_id": "ENSP00000353916.3",
          "transcript_support_level": 2,
          "aa_start": 103,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 308,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 617,
          "cdna_end": null,
          "cdna_length": 3734,
          "mane_select": "NM_006238.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.308G>A",
          "hgvs_p": "p.Arg103His",
          "transcript": "NM_001171818.2",
          "protein_id": "NP_001165289.1",
          "transcript_support_level": null,
          "aa_start": 103,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 308,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 713,
          "cdna_end": null,
          "cdna_length": 3830,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.308G>A",
          "hgvs_p": "p.Arg103His",
          "transcript": "ENST00000311565.4",
          "protein_id": "ENSP00000310928.4",
          "transcript_support_level": 5,
          "aa_start": 103,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 308,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 657,
          "cdna_end": null,
          "cdna_length": 3774,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.191G>A",
          "hgvs_p": "p.Arg64His",
          "transcript": "NM_001171819.2",
          "protein_id": "NP_001165290.1",
          "transcript_support_level": null,
          "aa_start": 64,
          "aa_end": null,
          "aa_length": 402,
          "cds_start": 191,
          "cds_end": null,
          "cds_length": 1209,
          "cdna_start": 386,
          "cdna_end": null,
          "cdna_length": 3503,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.191G>A",
          "hgvs_p": "p.Arg64His",
          "transcript": "ENST00000448077.6",
          "protein_id": "ENSP00000414372.2",
          "transcript_support_level": 2,
          "aa_start": 64,
          "aa_end": null,
          "aa_length": 402,
          "cds_start": 191,
          "cds_end": null,
          "cds_length": 1209,
          "cdna_start": 386,
          "cdna_end": null,
          "cdna_length": 3516,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.308G>A",
          "hgvs_p": "p.Arg103His",
          "transcript": "NM_177435.3",
          "protein_id": "NP_803184.1",
          "transcript_support_level": null,
          "aa_start": 103,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": 308,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": 617,
          "cdna_end": null,
          "cdna_length": 2008,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.308G>A",
          "hgvs_p": "p.Arg103His",
          "transcript": "ENST00000337400.6",
          "protein_id": "ENSP00000337063.2",
          "transcript_support_level": 5,
          "aa_start": 103,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": 308,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": 657,
          "cdna_end": null,
          "cdna_length": 2041,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.308G>A",
          "hgvs_p": "p.Arg103His",
          "transcript": "XM_005249193.2",
          "protein_id": "XP_005249250.1",
          "transcript_support_level": null,
          "aa_start": 103,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 308,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 645,
          "cdna_end": null,
          "cdna_length": 3762,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.308G>A",
          "hgvs_p": "p.Arg103His",
          "transcript": "XM_006715123.2",
          "protein_id": "XP_006715186.1",
          "transcript_support_level": null,
          "aa_start": 103,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 308,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 533,
          "cdna_end": null,
          "cdna_length": 3650,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
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          "strand": true,
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          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.308G>A",
          "hgvs_p": "p.Arg103His",
          "transcript": "XM_011514707.2",
          "protein_id": "XP_011513009.1",
          "transcript_support_level": null,
          "aa_start": 103,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 308,
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          "cds_length": 1326,
          "cdna_start": 1380,
          "cdna_end": null,
          "cdna_length": 4497,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
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          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.308G>A",
          "hgvs_p": "p.Arg103His",
          "transcript": "XM_011514710.2",
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          "mane_select": null,
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        {
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          ],
          "exon_rank": 7,
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          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.308G>A",
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          "protein_id": "XP_016866462.1",
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          "cdna_length": 3959,
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        {
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          "intron_rank": null,
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          "gene_symbol": "PPARD",
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          "hgvs_c": "c.308G>A",
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          "transcript": "XM_017010974.2",
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          "cdna_start": 767,
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          "mane_select": null,
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        },
        {
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        {
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          "gene_symbol": "PPARD",
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          "hgvs_c": "c.308G>A",
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          "transcript": "XM_047418916.1",
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        {
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          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "PPARD",
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        },
        {
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          "gene_symbol": "PPARD",
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        {
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          "cdna_length": 4600,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.308G>A",
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          "transcript": "XM_047418921.1",
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      "clinvar_disease": "not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}