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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: 6-98875676-GT-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=98875676&ref=GT&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 98875676,
      "ref": "GT",
      "alt": "G",
      "effect": "frameshift_variant",
      "transcript": "NM_012160.5",
      "consequences": [
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FBXL4",
          "gene_hgnc_id": 13601,
          "hgvs_c": "c.1440delA",
          "hgvs_p": "p.Lys480fs",
          "transcript": "NM_001278716.2",
          "protein_id": "NP_001265645.1",
          "transcript_support_level": null,
          "aa_start": 480,
          "aa_end": null,
          "aa_length": 621,
          "cds_start": 1440,
          "cds_end": null,
          "cds_length": 1866,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000369244.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001278716.2"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FBXL4",
          "gene_hgnc_id": 13601,
          "hgvs_c": "c.1440delA",
          "hgvs_p": "p.Lys480fs",
          "transcript": "ENST00000369244.7",
          "protein_id": "ENSP00000358247.1",
          "transcript_support_level": 1,
          "aa_start": 480,
          "aa_end": null,
          "aa_length": 621,
          "cds_start": 1440,
          "cds_end": null,
          "cds_length": 1866,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001278716.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000369244.7"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FBXL4",
          "gene_hgnc_id": 13601,
          "hgvs_c": "c.1440delA",
          "hgvs_p": "p.Lys480fs",
          "transcript": "ENST00000229971.2",
          "protein_id": "ENSP00000229971.1",
          "transcript_support_level": 1,
          "aa_start": 480,
          "aa_end": null,
          "aa_length": 621,
          "cds_start": 1440,
          "cds_end": null,
          "cds_length": 1866,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000229971.2"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FBXL4",
          "gene_hgnc_id": 13601,
          "hgvs_c": "c.1461delA",
          "hgvs_p": "p.Lys487fs",
          "transcript": "ENST00000892543.1",
          "protein_id": "ENSP00000562602.1",
          "transcript_support_level": null,
          "aa_start": 487,
          "aa_end": null,
          "aa_length": 628,
          "cds_start": 1461,
          "cds_end": null,
          "cds_length": 1887,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892543.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FBXL4",
          "gene_hgnc_id": 13601,
          "hgvs_c": "c.1461delA",
          "hgvs_p": "p.Lys487fs",
          "transcript": "ENST00000945102.1",
          "protein_id": "ENSP00000615161.1",
          "transcript_support_level": null,
          "aa_start": 487,
          "aa_end": null,
          "aa_length": 628,
          "cds_start": 1461,
          "cds_end": null,
          "cds_length": 1887,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000945102.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FBXL4",
          "gene_hgnc_id": 13601,
          "hgvs_c": "c.1440delA",
          "hgvs_p": "p.Lys480fs",
          "transcript": "NM_012160.5",
          "protein_id": "NP_036292.2",
          "transcript_support_level": null,
          "aa_start": 480,
          "aa_end": null,
          "aa_length": 621,
          "cds_start": 1440,
          "cds_end": null,
          "cds_length": 1866,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_012160.5"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FBXL4",
          "gene_hgnc_id": 13601,
          "hgvs_c": "c.1440delA",
          "hgvs_p": "p.Lys480fs",
          "transcript": "ENST00000892540.1",
          "protein_id": "ENSP00000562599.1",
          "transcript_support_level": null,
          "aa_start": 480,
          "aa_end": null,
          "aa_length": 621,
          "cds_start": 1440,
          "cds_end": null,
          "cds_length": 1866,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892540.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FBXL4",
          "gene_hgnc_id": 13601,
          "hgvs_c": "c.1440delA",
          "hgvs_p": "p.Lys480fs",
          "transcript": "ENST00000892542.1",
          "protein_id": "ENSP00000562601.1",
          "transcript_support_level": null,
          "aa_start": 480,
          "aa_end": null,
          "aa_length": 621,
          "cds_start": 1440,
          "cds_end": null,
          "cds_length": 1866,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892542.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FBXL4",
          "gene_hgnc_id": 13601,
          "hgvs_c": "c.1440delA",
          "hgvs_p": "p.Lys480fs",
          "transcript": "ENST00000892550.1",
          "protein_id": "ENSP00000562609.1",
          "transcript_support_level": null,
          "aa_start": 480,
          "aa_end": null,
          "aa_length": 621,
          "cds_start": 1440,
          "cds_end": null,
          "cds_length": 1866,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892550.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FBXL4",
          "gene_hgnc_id": 13601,
          "hgvs_c": "c.1440delA",
          "hgvs_p": "p.Lys480fs",
          "transcript": "ENST00000892554.1",
          "protein_id": "ENSP00000562613.1",
          "transcript_support_level": null,
          "aa_start": 480,
          "aa_end": null,
          "aa_length": 621,
          "cds_start": 1440,
          "cds_end": null,
          "cds_length": 1866,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892554.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FBXL4",
          "gene_hgnc_id": 13601,
          "hgvs_c": "c.1440delA",
          "hgvs_p": "p.Lys480fs",
          "transcript": "ENST00000892560.1",
          "protein_id": "ENSP00000562619.1",
          "transcript_support_level": null,
          "aa_start": 480,
          "aa_end": null,
          "aa_length": 621,
          "cds_start": 1440,
          "cds_end": null,
          "cds_length": 1866,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892560.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FBXL4",
          "gene_hgnc_id": 13601,
          "hgvs_c": "c.1440delA",
          "hgvs_p": "p.Lys480fs",
          "transcript": "ENST00000945098.1",
          "protein_id": "ENSP00000615157.1",
          "transcript_support_level": null,
          "aa_start": 480,
          "aa_end": null,
          "aa_length": 621,
          "cds_start": 1440,
          "cds_end": null,
          "cds_length": 1866,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000945098.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FBXL4",
          "gene_hgnc_id": 13601,
          "hgvs_c": "c.1434delA",
          "hgvs_p": "p.Lys478fs",
          "transcript": "ENST00000892552.1",
          "protein_id": "ENSP00000562611.1",
          "transcript_support_level": null,
          "aa_start": 478,
          "aa_end": null,
          "aa_length": 619,
          "cds_start": 1434,
          "cds_end": null,
          "cds_length": 1860,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892552.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FBXL4",
          "gene_hgnc_id": 13601,
          "hgvs_c": "c.1389delA",
          "hgvs_p": "p.Lys463fs",
          "transcript": "ENST00000892546.1",
          "protein_id": "ENSP00000562605.1",
          "transcript_support_level": null,
          "aa_start": 463,
          "aa_end": null,
          "aa_length": 604,
          "cds_start": 1389,
          "cds_end": null,
          "cds_length": 1815,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892546.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FBXL4",
          "gene_hgnc_id": 13601,
          "hgvs_c": "c.1389delA",
          "hgvs_p": "p.Lys463fs",
          "transcript": "ENST00000892556.1",
          "protein_id": "ENSP00000562615.1",
          "transcript_support_level": null,
          "aa_start": 463,
          "aa_end": null,
          "aa_length": 604,
          "cds_start": 1389,
          "cds_end": null,
          "cds_length": 1815,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892556.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FBXL4",
          "gene_hgnc_id": 13601,
          "hgvs_c": "c.1368delA",
          "hgvs_p": "p.Lys456fs",
          "transcript": "ENST00000892539.1",
          "protein_id": "ENSP00000562598.1",
          "transcript_support_level": null,
          "aa_start": 456,
          "aa_end": null,
          "aa_length": 597,
          "cds_start": 1368,
          "cds_end": null,
          "cds_length": 1794,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892539.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FBXL4",
          "gene_hgnc_id": 13601,
          "hgvs_c": "c.1368delA",
          "hgvs_p": "p.Lys456fs",
          "transcript": "ENST00000892541.1",
          "protein_id": "ENSP00000562600.1",
          "transcript_support_level": null,
          "aa_start": 456,
          "aa_end": null,
          "aa_length": 597,
          "cds_start": 1368,
          "cds_end": null,
          "cds_length": 1794,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000892541.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FBXL4",
          "gene_hgnc_id": 13601,
          "hgvs_c": "c.1368delA",
          "hgvs_p": "p.Lys456fs",
          "transcript": "ENST00000892548.1",
          "protein_id": "ENSP00000562607.1",
          "transcript_support_level": null,
          "aa_start": 456,
          "aa_end": null,
          "aa_length": 597,
          "cds_start": 1368,
          "cds_end": null,
          "cds_length": 1794,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000892548.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FBXL4",
          "gene_hgnc_id": 13601,
          "hgvs_c": "c.1368delA",
          "hgvs_p": "p.Lys456fs",
          "transcript": "ENST00000935939.1",
          "protein_id": "ENSP00000605998.1",
          "transcript_support_level": null,
          "aa_start": 456,
          "aa_end": null,
          "aa_length": 597,
          "cds_start": 1368,
          "cds_end": null,
          "cds_length": 1794,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000935939.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FBXL4",
          "gene_hgnc_id": 13601,
          "hgvs_c": "c.1368delA",
          "hgvs_p": "p.Lys456fs",
          "transcript": "ENST00000945100.1",
          "protein_id": "ENSP00000615159.1",
          "transcript_support_level": null,
          "aa_start": 456,
          "aa_end": null,
          "aa_length": 597,
          "cds_start": 1368,
          "cds_end": null,
          "cds_length": 1794,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
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      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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  "message": null
}