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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: 2-169636997-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=169636997&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 169636997,
      "ref": "A",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_004792.3",
      "consequences": [
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1739A>C",
          "hgvs_p": "p.His580Pro",
          "transcript": "NM_004792.3",
          "protein_id": "NP_004783.2",
          "transcript_support_level": null,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 754,
          "cds_start": 1739,
          "cds_end": null,
          "cds_length": 2265,
          "cdna_start": 1948,
          "cdna_end": null,
          "cdna_length": 6357,
          "mane_select": "ENST00000260970.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_004792.3"
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1739A>C",
          "hgvs_p": "p.His580Pro",
          "transcript": "ENST00000260970.8",
          "protein_id": "ENSP00000260970.3",
          "transcript_support_level": 1,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 754,
          "cds_start": 1739,
          "cds_end": null,
          "cds_length": 2265,
          "cdna_start": 1948,
          "cdna_end": null,
          "cdna_length": 6357,
          "mane_select": "NM_004792.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000260970.8"
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1739A>C",
          "hgvs_p": "p.His580Pro",
          "transcript": "ENST00000433207.6",
          "protein_id": "ENSP00000408683.2",
          "transcript_support_level": 1,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 754,
          "cds_start": 1739,
          "cds_end": null,
          "cds_length": 2265,
          "cdna_start": 1957,
          "cdna_end": null,
          "cdna_length": 2776,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000433207.6"
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1739A>C",
          "hgvs_p": "p.His580Pro",
          "transcript": "ENST00000448752.7",
          "protein_id": "ENSP00000407083.2",
          "transcript_support_level": 1,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 754,
          "cds_start": 1739,
          "cds_end": null,
          "cds_length": 2265,
          "cdna_start": 1897,
          "cdna_end": null,
          "cdna_length": 2861,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000448752.7"
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1694A>C",
          "hgvs_p": "p.His565Pro",
          "transcript": "ENST00000409714.7",
          "protein_id": "ENSP00000386245.3",
          "transcript_support_level": 1,
          "aa_start": 565,
          "aa_end": null,
          "aa_length": 739,
          "cds_start": 1694,
          "cds_end": null,
          "cds_length": 2220,
          "cdna_start": 1901,
          "cdna_end": null,
          "cdna_length": 2615,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000409714.7"
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1739A>C",
          "hgvs_p": "p.His580Pro",
          "transcript": "ENST00000676756.1",
          "protein_id": "ENSP00000503525.1",
          "transcript_support_level": null,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 754,
          "cds_start": 1739,
          "cds_end": null,
          "cds_length": 2265,
          "cdna_start": 1874,
          "cdna_end": null,
          "cdna_length": 6283,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000676756.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1739A>C",
          "hgvs_p": "p.His580Pro",
          "transcript": "ENST00000678499.1",
          "protein_id": "ENSP00000503136.1",
          "transcript_support_level": null,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 754,
          "cds_start": 1739,
          "cds_end": null,
          "cds_length": 2265,
          "cdna_start": 2061,
          "cdna_end": null,
          "cdna_length": 6453,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000678499.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1739A>C",
          "hgvs_p": "p.His580Pro",
          "transcript": "ENST00000679107.1",
          "protein_id": "ENSP00000502997.1",
          "transcript_support_level": null,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 754,
          "cds_start": 1739,
          "cds_end": null,
          "cds_length": 2265,
          "cdna_start": 2087,
          "cdna_end": null,
          "cdna_length": 6479,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000679107.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1739A>C",
          "hgvs_p": "p.His580Pro",
          "transcript": "ENST00000935437.1",
          "protein_id": "ENSP00000605496.1",
          "transcript_support_level": null,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 754,
          "cds_start": 1739,
          "cds_end": null,
          "cds_length": 2265,
          "cdna_start": 2014,
          "cdna_end": null,
          "cdna_length": 6417,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000935437.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1739A>C",
          "hgvs_p": "p.His580Pro",
          "transcript": "ENST00000951877.1",
          "protein_id": "ENSP00000621936.1",
          "transcript_support_level": null,
          "aa_start": 580,
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          "cds_start": 1739,
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          "cdna_start": 2436,
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          "mane_select": null,
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        {
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          "strand": true,
          "consequences": [
            "missense_variant"
          ],
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          "exon_count": 14,
          "intron_rank": null,
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          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1736A>C",
          "hgvs_p": "p.His579Pro",
          "transcript": "ENST00000935439.1",
          "protein_id": "ENSP00000605498.1",
          "transcript_support_level": null,
          "aa_start": 579,
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          "cds_start": 1736,
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          "cdna_start": 1954,
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          "cdna_length": 2706,
          "mane_select": null,
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        {
          "aa_ref": "H",
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          "consequences": [
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          ],
          "exon_rank": 14,
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          "intron_rank": null,
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          "gene_symbol": "PPIG",
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          "hgvs_c": "c.1730A>C",
          "hgvs_p": "p.His577Pro",
          "transcript": "ENST00000678088.1",
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          "cds_start": 1730,
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          "cdna_start": 1948,
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        {
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          "strand": true,
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          ],
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          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1730A>C",
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        {
          "aa_ref": "H",
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          ],
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          "exon_count": 14,
          "intron_rank": null,
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          "gene_symbol": "PPIG",
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          "hgvs_c": "c.1730A>C",
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          "transcript": "ENST00000951878.1",
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        {
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          "gene_symbol": "PPIG",
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        {
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          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
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          "transcript": "ENST00000678638.1",
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        {
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          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
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        {
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          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1664A>C",
          "hgvs_p": "p.His555Pro",
          "transcript": "ENST00000935440.1",
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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.