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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-71154354-A-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=71154354&ref=A&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "X",
      "pos": 71154354,
      "ref": "A",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000685718.1",
      "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": 4,
          "intron_rank_end": null,
          "gene_symbol": "NLGN3",
          "gene_hgnc_id": 14289,
          "hgvs_c": "c.577+818A>T",
          "hgvs_p": null,
          "transcript": "NM_181303.2",
          "protein_id": "NP_851820.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 848,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2547,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3975,
          "mane_select": "ENST00000358741.4",
          "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": 8,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "NLGN3",
          "gene_hgnc_id": 14289,
          "hgvs_c": "c.577+818A>T",
          "hgvs_p": null,
          "transcript": "ENST00000358741.4",
          "protein_id": "ENSP00000351591.4",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 848,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2547,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3975,
          "mane_select": "NM_181303.2",
          "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": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "NLGN3",
          "gene_hgnc_id": 14289,
          "hgvs_c": "c.517+818A>T",
          "hgvs_p": null,
          "transcript": "ENST00000374051.7",
          "protein_id": "ENSP00000363163.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 828,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2487,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3913,
          "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": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "NLGN3",
          "gene_hgnc_id": 14289,
          "hgvs_c": "c.458-860A>T",
          "hgvs_p": null,
          "transcript": "ENST00000395855.7",
          "protein_id": "ENSP00000379196.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 528,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1587,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2842,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "NLGN3",
          "gene_hgnc_id": 14289,
          "hgvs_c": "n.756+818A>T",
          "hgvs_p": null,
          "transcript": "ENST00000476589.2",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3789,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "NLGN3",
          "gene_hgnc_id": 14289,
          "hgvs_c": "n.517+818A>T",
          "hgvs_p": null,
          "transcript": "ENST00000685718.1",
          "protein_id": "ENSP00000510514.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4125,
          "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": 3,
          "intron_rank_end": null,
          "gene_symbol": "NLGN3",
          "gene_hgnc_id": 14289,
          "hgvs_c": "c.517+818A>T",
          "hgvs_p": null,
          "transcript": "NM_018977.4",
          "protein_id": "NP_061850.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 828,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2487,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3915,
          "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": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "NLGN3",
          "gene_hgnc_id": 14289,
          "hgvs_c": "c.458-860A>T",
          "hgvs_p": null,
          "transcript": "NM_001166660.2",
          "protein_id": "NP_001160132.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 808,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2427,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3855,
          "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": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "NLGN3",
          "gene_hgnc_id": 14289,
          "hgvs_c": "c.458-860A>T",
          "hgvs_p": null,
          "transcript": "ENST00000536169.6",
          "protein_id": "ENSP00000445298.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 808,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2427,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3812,
          "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": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "NLGN3",
          "gene_hgnc_id": 14289,
          "hgvs_c": "c.577+818A>T",
          "hgvs_p": null,
          "transcript": "ENST00000687470.1",
          "protein_id": "ENSP00000508881.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 793,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2382,
          "cdna_start": null,
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          "cdna_length": 6361,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          "exon_rank": null,
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          "exon_count": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "NLGN3",
          "gene_hgnc_id": 14289,
          "hgvs_c": "c.457+6148A>T",
          "hgvs_p": null,
          "transcript": "ENST00000689857.1",
          "protein_id": "ENSP00000510719.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 758,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 3670,
          "mane_select": null,
          "mane_plus": null,
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          "feature": null
        },
        {
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          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "NLGN3",
          "gene_hgnc_id": 14289,
          "hgvs_c": "c.517+818A>T",
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          "transcript": "ENST00000689968.1",
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          "cds_start": -4,
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        {
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          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "NLGN3",
          "gene_hgnc_id": 14289,
          "hgvs_c": "c.226+818A>T",
          "hgvs_p": null,
          "transcript": "NM_001437941.1",
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        {
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          "gene_symbol": "NLGN3",
          "gene_hgnc_id": 14289,
          "hgvs_c": "c.226+818A>T",
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          "transcript": "NM_001438296.1",
          "protein_id": "NP_001425225.1",
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        {
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          "gene_symbol": "NLGN3",
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          "gene_symbol": "NLGN3",
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          "hgvs_c": "c.226+818A>T",
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          "transcript": "ENST00000688566.1",
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        {
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          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "NLGN3",
          "gene_hgnc_id": 14289,
          "hgvs_c": "c.166+818A>T",
          "hgvs_p": null,
          "transcript": "NM_001321276.2",
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        {
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          "consequences": [
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          ],
          "exon_rank": null,
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          "intron_rank": 4,
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          "gene_symbol": "NLGN3",
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          "gene_symbol": "NLGN3",
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          "mane_select": null,
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        {
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          "canonical": false,
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          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "NLGN3",
          "gene_hgnc_id": 14289,
          "hgvs_c": "c.517+818A>T",
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          "transcript": "ENST00000692905.1",
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      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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      "custom_annotations": null
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}