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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: 6-110176030-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=110176030&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 110176030,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_003931.3",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "WASF1",
          "gene_hgnc_id": 12732,
          "hgvs_c": "c.-127+2568A>G",
          "hgvs_p": null,
          "transcript": "NM_003931.3",
          "protein_id": "NP_003922.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 559,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1680,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000392589.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_003931.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "WASF1",
          "gene_hgnc_id": 12732,
          "hgvs_c": "c.-127+2568A>G",
          "hgvs_p": null,
          "transcript": "ENST00000392589.6",
          "protein_id": "ENSP00000376368.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 559,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1680,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_003931.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000392589.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "WASF1",
          "gene_hgnc_id": 12732,
          "hgvs_c": "c.-127+3409A>G",
          "hgvs_p": null,
          "transcript": "ENST00000359451.6",
          "protein_id": "ENSP00000352425.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 559,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1680,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000359451.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "WASF1",
          "gene_hgnc_id": 12732,
          "hgvs_c": "c.-29+3409A>G",
          "hgvs_p": null,
          "transcript": "ENST00000392587.6",
          "protein_id": "ENSP00000376366.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 559,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1680,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000392587.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "WASF1",
          "gene_hgnc_id": 12732,
          "hgvs_c": "c.-29+2568A>G",
          "hgvs_p": null,
          "transcript": "NM_001024934.2",
          "protein_id": "NP_001020105.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 559,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1680,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001024934.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "WASF1",
          "gene_hgnc_id": 12732,
          "hgvs_c": "c.-127+3409A>G",
          "hgvs_p": null,
          "transcript": "NM_001024935.2",
          "protein_id": "NP_001020106.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 559,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1680,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001024935.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "WASF1",
          "gene_hgnc_id": 12732,
          "hgvs_c": "c.-29+3409A>G",
          "hgvs_p": null,
          "transcript": "NM_001024936.2",
          "protein_id": "NP_001020107.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 559,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1680,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001024936.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "WASF1",
          "gene_hgnc_id": 12732,
          "hgvs_c": "c.-127+2568A>G",
          "hgvs_p": null,
          "transcript": "ENST00000392586.5",
          "protein_id": "ENSP00000376365.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 559,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1680,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000392586.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "WASF1",
          "gene_hgnc_id": 12732,
          "hgvs_c": "c.-29+2568A>G",
          "hgvs_p": null,
          "transcript": "ENST00000392588.5",
          "protein_id": "ENSP00000376367.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 559,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1680,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000392588.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "WASF1",
          "gene_hgnc_id": 12732,
          "hgvs_c": "c.-29+3811A>G",
          "hgvs_p": null,
          "transcript": "ENST00000875406.1",
          "protein_id": "ENSP00000545465.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 559,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1680,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875406.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "WASF1",
          "gene_hgnc_id": 12732,
          "hgvs_c": "c.-29+1117A>G",
          "hgvs_p": null,
          "transcript": "ENST00000875408.1",
          "protein_id": "ENSP00000545467.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 559,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1680,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000875408.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "WASF1",
          "gene_hgnc_id": 12732,
          "hgvs_c": "c.-127+1117A>G",
          "hgvs_p": null,
          "transcript": "ENST00000875411.1",
          "protein_id": "ENSP00000545470.1",
          "transcript_support_level": null,
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          "aa_length": 559,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "intron_rank": 1,
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          "gene_symbol": "WASF1",
          "gene_hgnc_id": 12732,
          "hgvs_c": "c.-29+3437A>G",
          "hgvs_p": null,
          "transcript": "ENST00000875412.1",
          "protein_id": "ENSP00000545471.1",
          "transcript_support_level": null,
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          "aa_length": 559,
          "cds_start": null,
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        },
        {
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          "canonical": false,
          "protein_coding": true,
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          "exon_rank": null,
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          "exon_count": 10,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "WASF1",
          "gene_hgnc_id": 12732,
          "hgvs_c": "c.-29+1117A>G",
          "hgvs_p": null,
          "transcript": "ENST00000875413.1",
          "protein_id": "ENSP00000545472.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 559,
          "cds_start": null,
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          "cdna_length": null,
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        },
        {
          "aa_ref": null,
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          ],
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          "gene_symbol": "WASF1",
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        {
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          "exon_rank": null,
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          "exon_count": 11,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "WASF1",
          "gene_hgnc_id": 12732,
          "hgvs_c": "c.-127+1712A>G",
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          "transcript": "ENST00000875415.1",
          "protein_id": "ENSP00000545474.1",
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        {
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          "exon_count": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "WASF1",
          "gene_hgnc_id": 12732,
          "hgvs_c": "c.-127+3811A>G",
          "hgvs_p": null,
          "transcript": "ENST00000920453.1",
          "protein_id": "ENSP00000590512.1",
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          "cds_start": null,
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          "gene_symbol": "WASF1",
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        {
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          ],
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          "intron_rank": 1,
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          "gene_symbol": "WASF1",
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          "hgvs_c": "c.-29+2568A>G",
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          "transcript": "ENST00000920456.1",
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        {
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          "protein_coding": true,
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          ],
          "exon_rank": null,
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          "exon_count": 10,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "WASF1",
          "gene_hgnc_id": 12732,
          "hgvs_c": "c.-29+2568A>G",
          "hgvs_p": null,
          "transcript": "ENST00000920457.1",
          "protein_id": "ENSP00000590516.1",
          "transcript_support_level": null,
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          "aa_length": 559,
          "cds_start": null,
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          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000920457.1"
        },
        {
          "aa_ref": null,
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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