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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: 3-9767398-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9767398&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 9767398,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_003656.5",
      "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": 12,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CAMK1",
          "gene_hgnc_id": 1459,
          "hgvs_c": "c.83+269A>G",
          "hgvs_p": null,
          "transcript": "NM_003656.5",
          "protein_id": "NP_003647.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 370,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1113,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000256460.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_003656.5"
        },
        {
          "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": 12,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CAMK1",
          "gene_hgnc_id": 1459,
          "hgvs_c": "c.83+269A>G",
          "hgvs_p": null,
          "transcript": "ENST00000256460.8",
          "protein_id": "ENSP00000256460.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 370,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1113,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_003656.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000256460.8"
        },
        {
          "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": 12,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CAMK1",
          "gene_hgnc_id": 1459,
          "hgvs_c": "c.83+269A>G",
          "hgvs_p": null,
          "transcript": "ENST00000962076.1",
          "protein_id": "ENSP00000632135.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 433,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1302,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000962076.1"
        },
        {
          "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": 13,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CAMK1",
          "gene_hgnc_id": 1459,
          "hgvs_c": "c.83+269A>G",
          "hgvs_p": null,
          "transcript": "ENST00000962077.1",
          "protein_id": "ENSP00000632136.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 385,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1158,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000962077.1"
        },
        {
          "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": 12,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CAMK1",
          "gene_hgnc_id": 1459,
          "hgvs_c": "c.83+269A>G",
          "hgvs_p": null,
          "transcript": "ENST00000856591.1",
          "protein_id": "ENSP00000526650.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 370,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1113,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000856591.1"
        },
        {
          "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": 13,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CAMK1",
          "gene_hgnc_id": 1459,
          "hgvs_c": "c.83+269A>G",
          "hgvs_p": null,
          "transcript": "ENST00000856594.1",
          "protein_id": "ENSP00000526653.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 370,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1113,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000856594.1"
        },
        {
          "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": 12,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CAMK1",
          "gene_hgnc_id": 1459,
          "hgvs_c": "c.83+269A>G",
          "hgvs_p": null,
          "transcript": "ENST00000856596.1",
          "protein_id": "ENSP00000526655.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 370,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1113,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000856596.1"
        },
        {
          "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": 12,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CAMK1",
          "gene_hgnc_id": 1459,
          "hgvs_c": "c.83+269A>G",
          "hgvs_p": null,
          "transcript": "ENST00000856597.1",
          "protein_id": "ENSP00000526656.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 367,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1104,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000856597.1"
        },
        {
          "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": 12,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CAMK1",
          "gene_hgnc_id": 1459,
          "hgvs_c": "c.83+269A>G",
          "hgvs_p": null,
          "transcript": "ENST00000856595.1",
          "protein_id": "ENSP00000526654.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 355,
          "cds_start": null,
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          "cds_length": 1068,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000856595.1"
        },
        {
          "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": 12,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CAMK1",
          "gene_hgnc_id": 1459,
          "hgvs_c": "c.83+269A>G",
          "hgvs_p": null,
          "transcript": "ENST00000856592.1",
          "protein_id": "ENSP00000526651.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 351,
          "cds_start": null,
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          "cds_length": 1056,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        {
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          "canonical": false,
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          "consequences": [
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          ],
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          "intron_rank": 6,
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          "gene_symbol": "OGG1",
          "gene_hgnc_id": 8125,
          "hgvs_c": "c.948+10582T>C",
          "hgvs_p": null,
          "transcript": "NM_001434448.1",
          "protein_id": "NP_001421377.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 335,
          "cds_start": 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,
          "protein_coding": true,
          "strand": false,
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          "intron_rank": 3,
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          "gene_symbol": "CAMK1",
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          "hgvs_c": "c.83+269A>G",
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          "cds_start": null,
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        {
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          "gene_symbol": "OGG1",
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          "hgvs_c": "c.948+10582T>C",
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        {
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          "gene_symbol": "OGG1",
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          "hgvs_c": "c.797+10582T>C",
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        {
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        {
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          "gene_symbol": "OGG1",
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          "gene_symbol": "OGG1",
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          "intron_rank": 2,
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          "gene_symbol": "CAMK1",
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          "hgvs_c": "c.83+269A>G",
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          "transcript": "XM_005265516.3",
          "protein_id": "XP_005265573.1",
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          "mane_select": null,
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        {
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
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      "custom_annotations": null
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  ],
  "message": null
}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.