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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: X-136206155-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=136206155&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "X",
      "pos": 136206155,
      "ref": "C",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000370683.6",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "FHL1",
          "gene_hgnc_id": 3702,
          "hgvs_c": "c.-26-252C>A",
          "hgvs_p": null,
          "transcript": "NM_001159702.3",
          "protein_id": "NP_001153174.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2568,
          "mane_select": null,
          "mane_plus": "ENST00000394155.8",
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "FHL1",
          "gene_hgnc_id": 3702,
          "hgvs_c": "c.-26-252C>A",
          "hgvs_p": null,
          "transcript": "ENST00000394155.8",
          "protein_id": "ENSP00000377710.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2568,
          "mane_select": null,
          "mane_plus": "NM_001159702.3",
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FHL1",
          "gene_hgnc_id": 3702,
          "hgvs_c": "c.23-252C>A",
          "hgvs_p": null,
          "transcript": "NM_001159699.2",
          "protein_id": "NP_001153171.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 296,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 891,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2286,
          "mane_select": "ENST00000370683.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FHL1",
          "gene_hgnc_id": 3702,
          "hgvs_c": "c.23-252C>A",
          "hgvs_p": null,
          "transcript": "ENST00000370683.6",
          "protein_id": "ENSP00000359717.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 296,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 891,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2286,
          "mane_select": "NM_001159699.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FHL1",
          "gene_hgnc_id": 3702,
          "hgvs_c": "c.-26-252C>A",
          "hgvs_p": null,
          "transcript": "ENST00000543669.5",
          "protein_id": "ENSP00000443333.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 280,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 843,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2878,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FHL1",
          "gene_hgnc_id": 3702,
          "hgvs_c": "c.-79C>A",
          "hgvs_p": null,
          "transcript": "ENST00000628568.1",
          "protein_id": "ENSP00000486782.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 280,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 843,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2304,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FHL1",
          "gene_hgnc_id": 3702,
          "hgvs_c": "c.23-252C>A",
          "hgvs_p": null,
          "transcript": "NM_001440769.1",
          "protein_id": "NP_001427698.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 339,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1020,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2486,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "FHL1",
          "gene_hgnc_id": 3702,
          "hgvs_c": "c.-26-252C>A",
          "hgvs_p": null,
          "transcript": "NM_001369326.1",
          "protein_id": "NP_001356255.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2699,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "FHL1",
          "gene_hgnc_id": 3702,
          "hgvs_c": "c.-26-252C>A",
          "hgvs_p": null,
          "transcript": "NM_001369327.2",
          "protein_id": "NP_001356256.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2536,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "FHL1",
          "gene_hgnc_id": 3702,
          "hgvs_c": "c.-26-252C>A",
          "hgvs_p": null,
          "transcript": "NM_001369328.1",
          "protein_id": "NP_001356257.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": null,
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          "cdna_length": 2576,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "FHL1",
          "gene_hgnc_id": 3702,
          "hgvs_c": "c.-26-252C>A",
          "hgvs_p": null,
          "transcript": "ENST00000651089.1",
          "protein_id": "ENSP00000498684.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 2801,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FHL1",
          "gene_hgnc_id": 3702,
          "hgvs_c": "c.62-252C>A",
          "hgvs_p": null,
          "transcript": "NM_001159701.2",
          "protein_id": "NP_001153173.1",
          "transcript_support_level": null,
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          "cds_start": -4,
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          "cdna_start": null,
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        {
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          "strand": true,
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          "exon_count": 6,
          "intron_rank": 1,
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          "gene_symbol": "FHL1",
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          "hgvs_c": "c.62-252C>A",
          "hgvs_p": null,
          "transcript": "ENST00000539015.5",
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          "aa_start": null,
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          "cds_start": -4,
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        },
        {
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          "gene_symbol": "FHL1",
          "gene_hgnc_id": 3702,
          "hgvs_c": "c.-26-252C>A",
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          "transcript": "NM_001159700.2",
          "protein_id": "NP_001153172.1",
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          "mane_select": null,
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        {
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          "canonical": false,
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          "intron_rank": 1,
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          "gene_symbol": "FHL1",
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          "hgvs_c": "c.-26-252C>A",
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        {
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          "gene_symbol": "FHL1",
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          "hgvs_c": "c.-26-252C>A",
          "hgvs_p": null,
          "transcript": "NM_001167819.1",
          "protein_id": "NP_001161291.1",
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          "cdna_start": null,
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        {
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          "exon_count": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "FHL1",
          "gene_hgnc_id": 3702,
          "hgvs_c": "c.-26-252C>A",
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          "transcript": "NM_001369329.1",
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        },
        {
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          "canonical": false,
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          "consequences": [
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          ],
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          "intron_rank": 2,
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          "gene_symbol": "FHL1",
          "gene_hgnc_id": 3702,
          "hgvs_c": "c.-26-252C>A",
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          "gene_symbol": "FHL1",
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          "hgvs_c": "c.-26-252C>A",
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          "transcript": "NM_001369331.1",
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        {
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          ],
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          "gene_symbol": "FHL1",
          "gene_hgnc_id": 3702,
          "hgvs_c": "c.-26-252C>A",
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          "transcript": "NM_001449.5",
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          "cdna_start": null,
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          "biotype": null,
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "FHL1",
          "gene_hgnc_id": 3702,
          "hgvs_c": "c.-26-252C>A",
          "hgvs_p": null,
          "transcript": "ENST00000394153.6",
          "protein_id": "ENSP00000377709.2",
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}