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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: 6-35411148-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=35411148&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 35411148,
      "ref": "G",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_006238.5",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.61G>T",
          "hgvs_p": "p.Ala21Ser",
          "transcript": "NM_006238.5",
          "protein_id": "NP_006229.1",
          "transcript_support_level": null,
          "aa_start": 21,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 61,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000360694.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_006238.5"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.61G>T",
          "hgvs_p": "p.Ala21Ser",
          "transcript": "ENST00000360694.8",
          "protein_id": "ENSP00000353916.3",
          "transcript_support_level": 2,
          "aa_start": 21,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 61,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_006238.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000360694.8"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.61G>T",
          "hgvs_p": "p.Ala21Ser",
          "transcript": "NM_001171818.2",
          "protein_id": "NP_001165289.1",
          "transcript_support_level": null,
          "aa_start": 21,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 61,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001171818.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.61G>T",
          "hgvs_p": "p.Ala21Ser",
          "transcript": "ENST00000311565.4",
          "protein_id": "ENSP00000310928.4",
          "transcript_support_level": 5,
          "aa_start": 21,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 61,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000311565.4"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.61G>T",
          "hgvs_p": "p.Ala21Ser",
          "transcript": "ENST00000875334.1",
          "protein_id": "ENSP00000545393.1",
          "transcript_support_level": null,
          "aa_start": 21,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 61,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875334.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.61G>T",
          "hgvs_p": "p.Ala21Ser",
          "transcript": "ENST00000875335.1",
          "protein_id": "ENSP00000545394.1",
          "transcript_support_level": null,
          "aa_start": 21,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 61,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875335.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.61G>T",
          "hgvs_p": "p.Ala21Ser",
          "transcript": "ENST00000875336.1",
          "protein_id": "ENSP00000545395.1",
          "transcript_support_level": null,
          "aa_start": 21,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 61,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875336.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.61G>T",
          "hgvs_p": "p.Ala21Ser",
          "transcript": "ENST00000875337.1",
          "protein_id": "ENSP00000545396.1",
          "transcript_support_level": null,
          "aa_start": 21,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 61,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875337.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.61G>T",
          "hgvs_p": "p.Ala21Ser",
          "transcript": "ENST00000875338.1",
          "protein_id": "ENSP00000545397.1",
          "transcript_support_level": null,
          "aa_start": 21,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 61,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875338.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.61G>T",
          "hgvs_p": "p.Ala21Ser",
          "transcript": "ENST00000875339.1",
          "protein_id": "ENSP00000545398.1",
          "transcript_support_level": null,
          "aa_start": 21,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 61,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875339.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.61G>T",
          "hgvs_p": "p.Ala21Ser",
          "transcript": "ENST00000875340.1",
          "protein_id": "ENSP00000545399.1",
          "transcript_support_level": null,
          "aa_start": 21,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 61,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875340.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.61G>T",
          "hgvs_p": "p.Ala21Ser",
          "transcript": "ENST00000875341.1",
          "protein_id": "ENSP00000545400.1",
          "transcript_support_level": null,
          "aa_start": 21,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 61,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875341.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.61G>T",
          "hgvs_p": "p.Ala21Ser",
          "transcript": "ENST00000875342.1",
          "protein_id": "ENSP00000545401.1",
          "transcript_support_level": null,
          "aa_start": 21,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 61,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875342.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.61G>T",
          "hgvs_p": "p.Ala21Ser",
          "transcript": "ENST00000875343.1",
          "protein_id": "ENSP00000545402.1",
          "transcript_support_level": null,
          "aa_start": 21,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 61,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875343.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.61G>T",
          "hgvs_p": "p.Ala21Ser",
          "transcript": "ENST00000875344.1",
          "protein_id": "ENSP00000545403.1",
          "transcript_support_level": null,
          "aa_start": 21,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 61,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875344.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.61G>T",
          "hgvs_p": "p.Ala21Ser",
          "transcript": "ENST00000875346.1",
          "protein_id": "ENSP00000545405.1",
          "transcript_support_level": null,
          "aa_start": 21,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 61,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875346.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.61G>T",
          "hgvs_p": "p.Ala21Ser",
          "transcript": "ENST00000875347.1",
          "protein_id": "ENSP00000545406.1",
          "transcript_support_level": null,
          "aa_start": 21,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 61,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875347.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.61G>T",
          "hgvs_p": "p.Ala21Ser",
          "transcript": "ENST00000875348.1",
          "protein_id": "ENSP00000545407.1",
          "transcript_support_level": null,
          "aa_start": 21,
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          "cds_start": 61,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000875348.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
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          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.61G>T",
          "hgvs_p": "p.Ala21Ser",
          "transcript": "ENST00000875349.1",
          "protein_id": "ENSP00000545408.1",
          "transcript_support_level": null,
          "aa_start": 21,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 61,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000875349.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.61G>T",
          "hgvs_p": "p.Ala21Ser",
          "transcript": "ENST00000875350.1",
          "protein_id": "ENSP00000545409.1",
          "transcript_support_level": null,
          "aa_start": 21,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 61,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875350.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
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}