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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: 12-66551165-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=66551165&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 66551165,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000359742.9",
      "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": 25,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GRIP1",
          "gene_hgnc_id": 18708,
          "hgvs_c": "c.137-9215C>T",
          "hgvs_p": null,
          "transcript": "NM_001366722.1",
          "protein_id": "NP_001353651.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1128,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3387,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5147,
          "mane_select": "ENST00000359742.9",
          "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": 25,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GRIP1",
          "gene_hgnc_id": 18708,
          "hgvs_c": "c.137-9215C>T",
          "hgvs_p": null,
          "transcript": "ENST00000359742.9",
          "protein_id": "ENSP00000352780.4",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1128,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3387,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5147,
          "mane_select": "NM_001366722.1",
          "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": 24,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GRIP1",
          "gene_hgnc_id": 18708,
          "hgvs_c": "c.137-9215C>T",
          "hgvs_p": null,
          "transcript": "ENST00000398016.7",
          "protein_id": "ENSP00000381098.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1076,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3231,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4888,
          "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": 19,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GRIP1",
          "gene_hgnc_id": 18708,
          "hgvs_c": "c.-32-9215C>T",
          "hgvs_p": null,
          "transcript": "ENST00000536215.5",
          "protein_id": "ENSP00000446011.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 786,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2362,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2491,
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "GRIP1",
          "gene_hgnc_id": 18708,
          "hgvs_c": "c.215-9215C>T",
          "hgvs_p": null,
          "transcript": "NM_001379345.1",
          "protein_id": "NP_001366274.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1154,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3465,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5137,
          "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": 23,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GRIP1",
          "gene_hgnc_id": 18708,
          "hgvs_c": "c.362-9215C>T",
          "hgvs_p": null,
          "transcript": "ENST00000696989.1",
          "protein_id": "ENSP00000513025.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 1136,
          "cds_start": -4,
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          "cds_length": 3411,
          "cdna_start": null,
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          "cdna_length": 5052,
          "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": [
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          ],
          "exon_rank": null,
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          "exon_count": 24,
          "intron_rank": 2,
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          "gene_symbol": "GRIP1",
          "gene_hgnc_id": 18708,
          "hgvs_c": "c.140-9215C>T",
          "hgvs_p": null,
          "transcript": "NM_001439322.1",
          "protein_id": "NP_001426251.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1114,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3345,
          "cdna_start": null,
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          "cdna_length": 5164,
          "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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          "exon_count": 24,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GRIP1",
          "gene_hgnc_id": 18708,
          "hgvs_c": "c.137-9215C>T",
          "hgvs_p": null,
          "transcript": "NM_001379346.1",
          "protein_id": "NP_001366275.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1113,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
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          "consequences": [
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          ],
          "exon_rank": null,
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          "gene_symbol": "GRIP1",
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          "transcript": "NM_001439323.1",
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          "gene_symbol": "GRIP1",
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          "hgvs_c": "c.215-9215C>T",
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