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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: 4-860924-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=860924&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "4",
      "pos": 860924,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_005255.4",
      "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": 28,
          "intron_rank": 23,
          "intron_rank_end": null,
          "gene_symbol": "GAK",
          "gene_hgnc_id": 4113,
          "hgvs_c": "c.3167-1202A>G",
          "hgvs_p": null,
          "transcript": "NM_005255.4",
          "protein_id": "NP_005246.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1311,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3936,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4461,
          "mane_select": "ENST00000314167.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_005255.4"
        },
        {
          "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": 28,
          "intron_rank": 23,
          "intron_rank_end": null,
          "gene_symbol": "GAK",
          "gene_hgnc_id": 4113,
          "hgvs_c": "c.3167-1202A>G",
          "hgvs_p": null,
          "transcript": "ENST00000314167.9",
          "protein_id": "ENSP00000314499.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1311,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3936,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4461,
          "mane_select": "NM_005255.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000314167.9"
        },
        {
          "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": 20,
          "intron_rank_end": null,
          "gene_symbol": "GAK",
          "gene_hgnc_id": 4113,
          "hgvs_c": "c.2930-1202A>G",
          "hgvs_p": null,
          "transcript": "ENST00000511163.5",
          "protein_id": "ENSP00000421361.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1232,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3699,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4280,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000511163.5"
        },
        {
          "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": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GAK",
          "gene_hgnc_id": 4113,
          "hgvs_c": "c.524-1202A>G",
          "hgvs_p": null,
          "transcript": "ENST00000510799.1",
          "protein_id": "ENSP00000426062.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 253,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 762,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 763,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000510799.1"
        },
        {
          "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": 29,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "GAK",
          "gene_hgnc_id": 4113,
          "hgvs_c": "c.3317-1202A>G",
          "hgvs_p": null,
          "transcript": "ENST00000904271.1",
          "protein_id": "ENSP00000574330.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1361,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4086,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4622,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000904271.1"
        },
        {
          "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": 29,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "GAK",
          "gene_hgnc_id": 4113,
          "hgvs_c": "c.3296-1202A>G",
          "hgvs_p": null,
          "transcript": "ENST00000904285.1",
          "protein_id": "ENSP00000574344.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1354,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4065,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4531,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000904285.1"
        },
        {
          "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": 29,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "GAK",
          "gene_hgnc_id": 4113,
          "hgvs_c": "c.3284-1202A>G",
          "hgvs_p": null,
          "transcript": "ENST00000904283.1",
          "protein_id": "ENSP00000574342.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1350,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4053,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4528,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000904283.1"
        },
        {
          "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": 29,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "GAK",
          "gene_hgnc_id": 4113,
          "hgvs_c": "c.3269-1202A>G",
          "hgvs_p": null,
          "transcript": "ENST00000904277.1",
          "protein_id": "ENSP00000574336.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1345,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4038,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4563,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000904277.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 29,
          "intron_rank": 23,
          "intron_rank_end": null,
          "gene_symbol": "GAK",
          "gene_hgnc_id": 4113,
          "hgvs_c": "c.3134-1202A>G",
          "hgvs_p": null,
          "transcript": "ENST00000904269.1",
          "protein_id": "ENSP00000574328.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": null,
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          "cds_length": 4035,
          "cdna_start": null,
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          "cdna_length": 4606,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000904269.1"
        },
        {
          "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": 28,
          "intron_rank": 23,
          "intron_rank_end": null,
          "gene_symbol": "GAK",
          "gene_hgnc_id": 4113,
          "hgvs_c": "c.3263-1202A>G",
          "hgvs_p": null,
          "transcript": "ENST00000904275.1",
          "protein_id": "ENSP00000574334.1",
          "transcript_support_level": null,
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          "aa_length": 1343,
          "cds_start": null,
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          "cdna_start": null,
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        {
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          "gene_symbol": "GAK",
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          "hgvs_c": "c.3167-1202A>G",
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          "transcript": "ENST00000904278.1",
          "protein_id": "ENSP00000574337.1",
          "transcript_support_level": null,
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          "aa_length": 1331,
          "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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        {
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          "gene_symbol": "GAK",
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          "gene_symbol": "GAK",
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          "hgvs_c": "c.3166+4198A>G",
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          "transcript": "ENST00000904262.1",
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}
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.