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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: 17-45169784-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=45169784&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 45169784,
      "ref": "G",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_001303436.1",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HEXIM2",
          "gene_hgnc_id": 28591,
          "hgvs_c": "c.836G>C",
          "hgvs_p": "p.Arg279Pro",
          "transcript": "NM_001303441.2",
          "protein_id": "NP_001290370.1",
          "transcript_support_level": null,
          "aa_start": 279,
          "aa_end": null,
          "aa_length": 286,
          "cds_start": 836,
          "cds_end": null,
          "cds_length": 861,
          "cdna_start": 1185,
          "cdna_end": null,
          "cdna_length": 1436,
          "mane_select": "ENST00000589230.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001303441.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HEXIM2",
          "gene_hgnc_id": 28591,
          "hgvs_c": "c.836G>C",
          "hgvs_p": "p.Arg279Pro",
          "transcript": "ENST00000589230.6",
          "protein_id": "ENSP00000466200.2",
          "transcript_support_level": 2,
          "aa_start": 279,
          "aa_end": null,
          "aa_length": 286,
          "cds_start": 836,
          "cds_end": null,
          "cds_length": 861,
          "cdna_start": 1185,
          "cdna_end": null,
          "cdna_length": 1436,
          "mane_select": "NM_001303441.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000589230.6"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HEXIM2",
          "gene_hgnc_id": 28591,
          "hgvs_c": "c.836G>C",
          "hgvs_p": "p.Arg279Pro",
          "transcript": "ENST00000591576.5",
          "protein_id": "ENSP00000465727.1",
          "transcript_support_level": 1,
          "aa_start": 279,
          "aa_end": null,
          "aa_length": 286,
          "cds_start": 836,
          "cds_end": null,
          "cds_length": 861,
          "cdna_start": 925,
          "cdna_end": null,
          "cdna_length": 1176,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000591576.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HEXIM2",
          "gene_hgnc_id": 28591,
          "hgvs_c": "c.836G>C",
          "hgvs_p": "p.Arg279Pro",
          "transcript": "ENST00000592695.1",
          "protein_id": "ENSP00000467517.1",
          "transcript_support_level": 1,
          "aa_start": 279,
          "aa_end": null,
          "aa_length": 286,
          "cds_start": 836,
          "cds_end": null,
          "cds_length": 861,
          "cdna_start": 995,
          "cdna_end": null,
          "cdna_length": 1246,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000592695.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HEXIM2",
          "gene_hgnc_id": 28591,
          "hgvs_c": "c.902G>C",
          "hgvs_p": "p.Arg301Pro",
          "transcript": "NM_001303436.1",
          "protein_id": "NP_001290365.1",
          "transcript_support_level": null,
          "aa_start": 301,
          "aa_end": null,
          "aa_length": 308,
          "cds_start": 902,
          "cds_end": null,
          "cds_length": 927,
          "cdna_start": 1650,
          "cdna_end": null,
          "cdna_length": 1906,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001303436.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HEXIM2",
          "gene_hgnc_id": 28591,
          "hgvs_c": "c.836G>C",
          "hgvs_p": "p.Arg279Pro",
          "transcript": "NM_001303437.1",
          "protein_id": "NP_001290366.1",
          "transcript_support_level": null,
          "aa_start": 279,
          "aa_end": null,
          "aa_length": 286,
          "cds_start": 836,
          "cds_end": null,
          "cds_length": 861,
          "cdna_start": 2103,
          "cdna_end": null,
          "cdna_length": 2359,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001303437.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HEXIM2",
          "gene_hgnc_id": 28591,
          "hgvs_c": "c.836G>C",
          "hgvs_p": "p.Arg279Pro",
          "transcript": "NM_001303438.1",
          "protein_id": "NP_001290367.1",
          "transcript_support_level": null,
          "aa_start": 279,
          "aa_end": null,
          "aa_length": 286,
          "cds_start": 836,
          "cds_end": null,
          "cds_length": 861,
          "cdna_start": 1955,
          "cdna_end": null,
          "cdna_length": 2211,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001303438.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HEXIM2",
          "gene_hgnc_id": 28591,
          "hgvs_c": "c.836G>C",
          "hgvs_p": "p.Arg279Pro",
          "transcript": "NM_001303439.1",
          "protein_id": "NP_001290368.1",
          "transcript_support_level": null,
          "aa_start": 279,
          "aa_end": null,
          "aa_length": 286,
          "cds_start": 836,
          "cds_end": null,
          "cds_length": 861,
          "cdna_start": 2107,
          "cdna_end": null,
          "cdna_length": 2363,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001303439.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HEXIM2",
          "gene_hgnc_id": 28591,
          "hgvs_c": "c.836G>C",
          "hgvs_p": "p.Arg279Pro",
          "transcript": "NM_001303440.2",
          "protein_id": "NP_001290369.1",
          "transcript_support_level": null,
          "aa_start": 279,
          "aa_end": null,
          "aa_length": 286,
          "cds_start": 836,
          "cds_end": null,
          "cds_length": 861,
          "cdna_start": 1037,
          "cdna_end": null,
          "cdna_length": 1288,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001303440.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HEXIM2",
          "gene_hgnc_id": 28591,
          "hgvs_c": "c.836G>C",
          "hgvs_p": "p.Arg279Pro",
          "transcript": "NM_001303442.2",
          "protein_id": "NP_001290371.1",
          "transcript_support_level": null,
          "aa_start": 279,
          "aa_end": null,
          "aa_length": 286,
          "cds_start": 836,
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          "cdna_start": 945,
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          "mane_select": null,
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
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          "gene_symbol": "HEXIM2",
          "gene_hgnc_id": 28591,
          "hgvs_c": "c.836G>C",
          "hgvs_p": "p.Arg279Pro",
          "transcript": "NM_001303443.2",
          "protein_id": "NP_001290372.1",
          "transcript_support_level": null,
          "aa_start": 279,
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          "aa_length": 286,
          "cds_start": 836,
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          "cdna_start": 1093,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "R",
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          "hgvs_c": "c.836G>C",
          "hgvs_p": "p.Arg279Pro",
          "transcript": "NM_001303444.2",
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          "cds_start": 836,
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          "mane_select": null,
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        },
        {
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          "strand": true,
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          ],
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          "intron_rank": null,
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          "gene_symbol": "HEXIM2",
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          "hgvs_c": "c.836G>C",
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          "transcript": "NM_144608.2",
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          "cdna_start": 1798,
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        },
        {
          "aa_ref": "R",
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          ],
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          "gene_symbol": "HEXIM2",
          "gene_hgnc_id": 28591,
          "hgvs_c": "c.836G>C",
          "hgvs_p": "p.Arg279Pro",
          "transcript": "ENST00000307275.7",
          "protein_id": "ENSP00000302276.2",
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        {
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          "hgvs_p": "p.Arg279Pro",
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        },
        {
          "aa_ref": "R",
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          ],
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          "gene_symbol": "HEXIM2",
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          "hgvs_p": "p.Arg279Pro",
          "transcript": "ENST00000586681.6",
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        {
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          "gene_symbol": "HEXIM2",
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        {
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          ],
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          "exon_count": 3,
          "intron_rank": null,
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          "gene_symbol": "HEXIM2",
          "gene_hgnc_id": 28591,
          "hgvs_c": "c.836G>C",
          "hgvs_p": "p.Arg279Pro",
          "transcript": "ENST00000894990.1",
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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.