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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: 11-123519517-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=123519517&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 123519517,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000635736.2",
      "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": 20,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GRAMD1B",
          "gene_hgnc_id": 29214,
          "hgvs_c": "c.452+38624C>T",
          "hgvs_p": null,
          "transcript": "NM_001387025.1",
          "protein_id": "NP_001373954.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 877,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2634,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8330,
          "mane_select": "ENST00000635736.2",
          "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": 20,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GRAMD1B",
          "gene_hgnc_id": 29214,
          "hgvs_c": "c.452+38624C>T",
          "hgvs_p": null,
          "transcript": "ENST00000635736.2",
          "protein_id": "ENSP00000490062.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 877,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2634,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8330,
          "mane_select": "NM_001387025.1",
          "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": 20,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GRAMD1B",
          "gene_hgnc_id": 29214,
          "hgvs_c": "c.452+38624C>T",
          "hgvs_p": null,
          "transcript": "NM_001387024.1",
          "protein_id": "NP_001373953.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 901,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2706,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8402,
          "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": 20,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GRAMD1B",
          "gene_hgnc_id": 29214,
          "hgvs_c": "c.449+38624C>T",
          "hgvs_p": null,
          "transcript": "NM_001387026.1",
          "protein_id": "NP_001373955.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 876,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2631,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8327,
          "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": 21,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GRAMD1B",
          "gene_hgnc_id": 29214,
          "hgvs_c": "c.320+38624C>T",
          "hgvs_p": null,
          "transcript": "NM_001367421.2",
          "protein_id": "NP_001354350.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 833,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2502,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8136,
          "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": 21,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GRAMD1B",
          "gene_hgnc_id": 29214,
          "hgvs_c": "c.104+38624C>T",
          "hgvs_p": null,
          "transcript": "NM_001367420.2",
          "protein_id": "NP_001354349.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 789,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2370,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7894,
          "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": 20,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GRAMD1B",
          "gene_hgnc_id": 29214,
          "hgvs_c": "c.110+27558C>T",
          "hgvs_p": null,
          "transcript": "ENST00000638086.1",
          "protein_id": "ENSP00000490920.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 767,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2304,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2665,
          "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": 21,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GRAMD1B",
          "gene_hgnc_id": 29214,
          "hgvs_c": "c.104+38624C>T",
          "hgvs_p": null,
          "transcript": "NM_001367419.2",
          "protein_id": "NP_001354348.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 765,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2298,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7822,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
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          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 2,
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          "gene_symbol": "GRAMD1B",
          "gene_hgnc_id": 29214,
          "hgvs_c": "c.104+38624C>T",
          "hgvs_p": null,
          "transcript": "NM_001367418.2",
          "protein_id": "NP_001354347.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 19,
          "intron_rank": 2,
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          "gene_symbol": "GRAMD1B",
          "gene_hgnc_id": 29214,
          "hgvs_c": "c.-98+38624C>T",
          "hgvs_p": null,
          "transcript": "NM_001387030.1",
          "protein_id": "NP_001373959.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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