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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: 21-41855386-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=41855386&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "21",
      "pos": 41855386,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000398548.6",
      "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": 24,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PRDM15",
          "gene_hgnc_id": 13999,
          "hgvs_c": "c.286-568T>C",
          "hgvs_p": null,
          "transcript": "NM_001040424.3",
          "protein_id": "NP_001035514.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1141,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3426,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6525,
          "mane_select": "ENST00000398548.6",
          "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": 24,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PRDM15",
          "gene_hgnc_id": 13999,
          "hgvs_c": "c.286-568T>C",
          "hgvs_p": null,
          "transcript": "ENST00000398548.6",
          "protein_id": "ENSP00000381556.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1141,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3426,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6525,
          "mane_select": "NM_001040424.3",
          "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": 31,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "PRDM15",
          "gene_hgnc_id": 13999,
          "hgvs_c": "c.484-568T>C",
          "hgvs_p": null,
          "transcript": "ENST00000269844.5",
          "protein_id": "ENSP00000269844.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1207,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3624,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4710,
          "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": 4,
          "intron_rank_end": null,
          "gene_symbol": "PRDM15",
          "gene_hgnc_id": 13999,
          "hgvs_c": "c.286-568T>C",
          "hgvs_p": null,
          "transcript": "ENST00000422911.6",
          "protein_id": "ENSP00000408592.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1161,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3486,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6714,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PRDM15",
          "gene_hgnc_id": 13999,
          "hgvs_c": "n.286-568T>C",
          "hgvs_p": null,
          "transcript": "ENST00000441787.5",
          "protein_id": "ENSP00000387958.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6542,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PRDM15",
          "gene_hgnc_id": 13999,
          "hgvs_c": "n.286-568T>C",
          "hgvs_p": null,
          "transcript": "ENST00000447016.6",
          "protein_id": "ENSP00000431410.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4992,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PRDM15",
          "gene_hgnc_id": 13999,
          "hgvs_c": "n.286-568T>C",
          "hgvs_p": null,
          "transcript": "ENST00000449395.6",
          "protein_id": "ENSP00000396943.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6662,
          "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": 31,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "PRDM15",
          "gene_hgnc_id": 13999,
          "hgvs_c": "c.484-568T>C",
          "hgvs_p": null,
          "transcript": "NM_022115.7",
          "protein_id": "NP_071398.5",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1207,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3624,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7512,
          "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": 4,
          "intron_rank_end": null,
          "gene_symbol": "PRDM15",
          "gene_hgnc_id": 13999,
          "hgvs_c": "c.286-568T>C",
          "hgvs_p": null,
          "transcript": "NM_001282934.2",
          "protein_id": "NP_001269863.2",
          "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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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 25,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PRDM15",
          "gene_hgnc_id": 13999,
          "hgvs_c": "n.370-568T>C",
          "hgvs_p": null,
          "transcript": "NR_104257.2",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "gene_symbol": "PRDM15",
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          "hgvs_c": "n.370-568T>C",
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "intron_rank": 4,
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          "gene_symbol": "PRDM15",
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          "hgvs_c": "n.363-568T>C",
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          "transcript": "XM_011529683.2",
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        {
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          "gene_symbol": "PRDM15",
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}