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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: 17-8377650-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8377650&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 8377650,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_000987.5",
      "consequences": [
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL26",
          "gene_hgnc_id": 10327,
          "hgvs_c": "c.352A>G",
          "hgvs_p": "p.Ile118Val",
          "transcript": "NM_000987.5",
          "protein_id": "NP_000978.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 145,
          "cds_start": 352,
          "cds_end": null,
          "cds_length": 438,
          "cdna_start": 394,
          "cdna_end": null,
          "cdna_length": 528,
          "mane_select": "ENST00000648839.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000987.5"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL26",
          "gene_hgnc_id": 10327,
          "hgvs_c": "c.352A>G",
          "hgvs_p": "p.Ile118Val",
          "transcript": "ENST00000648839.1",
          "protein_id": "ENSP00000498177.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 145,
          "cds_start": 352,
          "cds_end": null,
          "cds_length": 438,
          "cdna_start": 394,
          "cdna_end": null,
          "cdna_length": 528,
          "mane_select": "NM_000987.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000648839.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000263809",
          "gene_hgnc_id": null,
          "hgvs_c": "n.310-1546A>G",
          "hgvs_p": null,
          "transcript": "ENST00000582471.1",
          "protein_id": "ENSP00000463847.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3087,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000582471.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL26",
          "gene_hgnc_id": 10327,
          "hgvs_c": "c.376A>G",
          "hgvs_p": "p.Ile126Val",
          "transcript": "ENST00000913691.1",
          "protein_id": "ENSP00000583750.1",
          "transcript_support_level": null,
          "aa_start": 126,
          "aa_end": null,
          "aa_length": 153,
          "cds_start": 376,
          "cds_end": null,
          "cds_length": 462,
          "cdna_start": 418,
          "cdna_end": null,
          "cdna_length": 549,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000913691.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL26",
          "gene_hgnc_id": 10327,
          "hgvs_c": "c.376A>G",
          "hgvs_p": "p.Ile126Val",
          "transcript": "ENST00000913696.1",
          "protein_id": "ENSP00000583755.1",
          "transcript_support_level": null,
          "aa_start": 126,
          "aa_end": null,
          "aa_length": 153,
          "cds_start": 376,
          "cds_end": null,
          "cds_length": 462,
          "cdna_start": 418,
          "cdna_end": null,
          "cdna_length": 545,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000913696.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL26",
          "gene_hgnc_id": 10327,
          "hgvs_c": "c.358A>G",
          "hgvs_p": "p.Ile120Val",
          "transcript": "ENST00000913688.1",
          "protein_id": "ENSP00000583747.1",
          "transcript_support_level": null,
          "aa_start": 120,
          "aa_end": null,
          "aa_length": 147,
          "cds_start": 358,
          "cds_end": null,
          "cds_length": 444,
          "cdna_start": 434,
          "cdna_end": null,
          "cdna_length": 565,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000913688.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL26",
          "gene_hgnc_id": 10327,
          "hgvs_c": "c.352A>G",
          "hgvs_p": "p.Ile118Val",
          "transcript": "NM_001315530.2",
          "protein_id": "NP_001302459.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 145,
          "cds_start": 352,
          "cds_end": null,
          "cds_length": 438,
          "cdna_start": 770,
          "cdna_end": null,
          "cdna_length": 904,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001315530.2"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL26",
          "gene_hgnc_id": 10327,
          "hgvs_c": "c.352A>G",
          "hgvs_p": "p.Ile118Val",
          "transcript": "NM_001315531.2",
          "protein_id": "NP_001302460.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 145,
          "cds_start": 352,
          "cds_end": null,
          "cds_length": 438,
          "cdna_start": 689,
          "cdna_end": null,
          "cdna_length": 823,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001315531.2"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL26",
          "gene_hgnc_id": 10327,
          "hgvs_c": "c.352A>G",
          "hgvs_p": "p.Ile118Val",
          "transcript": "ENST00000582556.5",
          "protein_id": "ENSP00000463470.1",
          "transcript_support_level": 2,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 145,
          "cds_start": 352,
          "cds_end": null,
          "cds_length": 438,
          "cdna_start": 662,
          "cdna_end": null,
          "cdna_length": 763,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000582556.5"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL26",
          "gene_hgnc_id": 10327,
          "hgvs_c": "c.352A>G",
          "hgvs_p": "p.Ile118Val",
          "transcript": "ENST00000583011.6",
          "protein_id": "ENSP00000462322.1",
          "transcript_support_level": 3,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 145,
          "cds_start": 352,
          "cds_end": null,
          "cds_length": 438,
          "cdna_start": 437,
          "cdna_end": null,
          "cdna_length": 564,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000583011.6"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL26",
          "gene_hgnc_id": 10327,
          "hgvs_c": "c.352A>G",
          "hgvs_p": "p.Ile118Val",
          "transcript": "ENST00000584164.6",
          "protein_id": "ENSP00000463784.1",
          "transcript_support_level": 2,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 145,
          "cds_start": 352,
          "cds_end": null,
          "cds_length": 438,
          "cdna_start": 741,
          "cdna_end": null,
          "cdna_length": 870,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000584164.6"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL26",
          "gene_hgnc_id": 10327,
          "hgvs_c": "c.352A>G",
          "hgvs_p": "p.Ile118Val",
          "transcript": "ENST00000851389.1",
          "protein_id": "ENSP00000521448.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 145,
          "cds_start": 352,
          "cds_end": null,
          "cds_length": 438,
          "cdna_start": 764,
          "cdna_end": null,
          "cdna_length": 884,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000851389.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL26",
          "gene_hgnc_id": 10327,
          "hgvs_c": "c.352A>G",
          "hgvs_p": "p.Ile118Val",
          "transcript": "ENST00000851390.1",
          "protein_id": "ENSP00000521449.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 145,
          "cds_start": 352,
          "cds_end": null,
          "cds_length": 438,
          "cdna_start": 887,
          "cdna_end": null,
          "cdna_length": 1007,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000851390.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL26",
          "gene_hgnc_id": 10327,
          "hgvs_c": "c.352A>G",
          "hgvs_p": "p.Ile118Val",
          "transcript": "ENST00000851392.1",
          "protein_id": "ENSP00000521451.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 145,
          "cds_start": 352,
          "cds_end": null,
          "cds_length": 438,
          "cdna_start": 531,
          "cdna_end": null,
          "cdna_length": 651,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000851392.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL26",
          "gene_hgnc_id": 10327,
          "hgvs_c": "c.352A>G",
          "hgvs_p": "p.Ile118Val",
          "transcript": "ENST00000851394.1",
          "protein_id": "ENSP00000521453.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 145,
          "cds_start": 352,
          "cds_end": null,
          "cds_length": 438,
          "cdna_start": 762,
          "cdna_end": null,
          "cdna_length": 882,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000851394.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL26",
          "gene_hgnc_id": 10327,
          "hgvs_c": "c.352A>G",
          "hgvs_p": "p.Ile118Val",
          "transcript": "ENST00000913690.1",
          "protein_id": "ENSP00000583749.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 145,
          "cds_start": 352,
          "cds_end": null,
          "cds_length": 438,
          "cdna_start": 644,
          "cdna_end": null,
          "cdna_length": 773,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000913690.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL26",
          "gene_hgnc_id": 10327,
          "hgvs_c": "c.352A>G",
          "hgvs_p": "p.Ile118Val",
          "transcript": "ENST00000913692.1",
          "protein_id": "ENSP00000583751.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 145,
          "cds_start": 352,
          "cds_end": null,
          "cds_length": 438,
          "cdna_start": 443,
          "cdna_end": null,
          "cdna_length": 572,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000913692.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL26",
          "gene_hgnc_id": 10327,
          "hgvs_c": "c.352A>G",
          "hgvs_p": "p.Ile118Val",
          "transcript": "ENST00000913697.1",
          "protein_id": "ENSP00000583756.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 145,
          "cds_start": 352,
          "cds_end": null,
          "cds_length": 438,
          "cdna_start": 415,
          "cdna_end": null,
          "cdna_length": 542,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000913697.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL26",
          "gene_hgnc_id": 10327,
          "hgvs_c": "c.352A>G",
          "hgvs_p": "p.Ile118Val",
          "transcript": "ENST00000913699.1",
          "protein_id": "ENSP00000583758.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 145,
          "cds_start": 352,
          "cds_end": null,
          "cds_length": 438,
          "cdna_start": 465,
          "cdna_end": null,
          "cdna_length": 592,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000913699.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL26",
          "gene_hgnc_id": 10327,
          "hgvs_c": "c.352A>G",
          "hgvs_p": "p.Ile118Val",
          "transcript": "ENST00000913702.1",
          "protein_id": "ENSP00000583761.1",
          "transcript_support_level": null,
          "aa_start": 118,
          "aa_end": null,
          "aa_length": 145,
          "cds_start": 352,
          "cds_end": null,
          "cds_length": 438,
          "cdna_start": 886,
          "cdna_end": null,
          "cdna_length": 1016,
          "mane_select": null,
          "mane_plus": null,
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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.