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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: 9-70548684-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=70548684&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 70548684,
      "ref": "T",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000677713.2",
      "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": 26,
          "intron_rank": 25,
          "intron_rank_end": null,
          "gene_symbol": "TRPM3",
          "gene_hgnc_id": 17992,
          "hgvs_c": "c.3707+858A>T",
          "hgvs_p": null,
          "transcript": "NM_001366145.2",
          "protein_id": "NP_001353074.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1719,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5160,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 12320,
          "mane_select": "ENST00000677713.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 26,
          "intron_rank": 25,
          "intron_rank_end": null,
          "gene_symbol": "TRPM3",
          "gene_hgnc_id": 17992,
          "hgvs_c": "c.3707+858A>T",
          "hgvs_p": null,
          "transcript": "ENST00000677713.2",
          "protein_id": "ENSP00000503830.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1719,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5160,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 12320,
          "mane_select": "NM_001366145.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 25,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "TRPM3",
          "gene_hgnc_id": 17992,
          "hgvs_c": "c.3671+858A>T",
          "hgvs_p": null,
          "transcript": "ENST00000377110.9",
          "protein_id": "ENSP00000366314.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1707,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5124,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 12258,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 26,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "TRPM3",
          "gene_hgnc_id": 17992,
          "hgvs_c": "c.3671+858A>T",
          "hgvs_p": null,
          "transcript": "ENST00000377111.8",
          "protein_id": "ENSP00000366315.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1325,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3978,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4618,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 27,
          "intron_rank": 26,
          "intron_rank_end": null,
          "gene_symbol": "TRPM3",
          "gene_hgnc_id": 17992,
          "hgvs_c": "c.3782+858A>T",
          "hgvs_p": null,
          "transcript": "NM_001366147.2",
          "protein_id": "NP_001353076.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1744,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5235,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 12395,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 25,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "TRPM3",
          "gene_hgnc_id": 17992,
          "hgvs_c": "c.3683+858A>T",
          "hgvs_p": null,
          "transcript": "ENST00000357533.7",
          "protein_id": "ENSP00000350140.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1711,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5136,
          "cdna_start": null,
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          "cdna_length": 5287,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "TRPM3",
          "gene_hgnc_id": 17992,
          "hgvs_c": "c.3677+858A>T",
          "hgvs_p": null,
          "transcript": "NM_001366141.2",
          "protein_id": "NP_001353070.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1709,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5130,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 12159,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 25,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "TRPM3",
          "gene_hgnc_id": 17992,
          "hgvs_c": "c.3677+858A>T",
          "hgvs_p": null,
          "transcript": "NM_001366149.2",
          "protein_id": "NP_001353078.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1709,
          "cds_start": -4,
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          "cds_length": 5130,
          "cdna_start": null,
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          "cdna_length": 12290,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "intron_rank": 24,
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          "gene_symbol": "TRPM3",
          "gene_hgnc_id": 17992,
          "hgvs_c": "c.3671+858A>T",
          "hgvs_p": null,
          "transcript": "NM_001007471.4",
          "protein_id": "NP_001007472.2",
          "transcript_support_level": null,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "intron_rank": 25,
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          "gene_symbol": "TRPM3",
          "gene_hgnc_id": 17992,
          "hgvs_c": "c.3605+858A>T",
          "hgvs_p": null,
          "transcript": "ENST00000707140.1",
          "protein_id": "ENSP00000516762.1",
          "transcript_support_level": null,
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          "mane_select": null,
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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  "message": null
}