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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: 6-26374675-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=26374675&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 26374675,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000377708.7",
      "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": 11,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "BTN3A2",
          "gene_hgnc_id": 1139,
          "hgvs_c": "c.*7-96A>G",
          "hgvs_p": null,
          "transcript": "NM_007047.5",
          "protein_id": "NP_008978.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 334,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1005,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3776,
          "mane_select": "ENST00000377708.7",
          "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": 11,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "BTN3A2",
          "gene_hgnc_id": 1139,
          "hgvs_c": "c.*7-96A>G",
          "hgvs_p": null,
          "transcript": "ENST00000377708.7",
          "protein_id": "ENSP00000366937.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 334,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1005,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3776,
          "mane_select": "NM_007047.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 1,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BTN3A2",
          "gene_hgnc_id": 1139,
          "hgvs_c": "n.1983A>G",
          "hgvs_p": null,
          "transcript": "ENST00000604202.1",
          "protein_id": null,
          "transcript_support_level": 6,
          "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": 3009,
          "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": 9,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "BTN3A2",
          "gene_hgnc_id": 1139,
          "hgvs_c": "c.*7-96A>G",
          "hgvs_p": null,
          "transcript": "NM_001197246.2",
          "protein_id": "NP_001184175.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 334,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1005,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2836,
          "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": 11,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "BTN3A2",
          "gene_hgnc_id": 1139,
          "hgvs_c": "c.*7-96A>G",
          "hgvs_p": null,
          "transcript": "NM_001197247.3",
          "protein_id": "NP_001184176.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 334,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1005,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4068,
          "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": 11,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "BTN3A2",
          "gene_hgnc_id": 1139,
          "hgvs_c": "c.*7-96A>G",
          "hgvs_p": null,
          "transcript": "ENST00000356386.6",
          "protein_id": "ENSP00000348751.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 334,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1005,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3017,
          "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": 11,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "BTN3A2",
          "gene_hgnc_id": 1139,
          "hgvs_c": "c.*7-96A>G",
          "hgvs_p": null,
          "transcript": "ENST00000396948.5",
          "protein_id": "ENSP00000380152.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 334,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1005,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1494,
          "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": 11,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "BTN3A2",
          "gene_hgnc_id": 1139,
          "hgvs_c": "c.*7-96A>G",
          "hgvs_p": null,
          "transcript": "ENST00000527422.5",
          "protein_id": "ENSP00000432138.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 334,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1005,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1460,
          "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": 9,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "BTN3A2",
          "gene_hgnc_id": 1139,
          "hgvs_c": "c.*7-96A>G",
          "hgvs_p": null,
          "transcript": "NM_001197248.3",
          "protein_id": "NP_001184177.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 311,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 936,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3625,
          "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": 9,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "BTN3A2",
          "gene_hgnc_id": 1139,
          "hgvs_c": "c.*7-96A>G",
          "hgvs_p": null,
          "transcript": "ENST00000396934.7",
          "protein_id": "ENSP00000380140.3",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 311,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 936,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3672,
          "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": 10,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "BTN3A2",
          "gene_hgnc_id": 1139,
          "hgvs_c": "c.*7-96A>G",
          "hgvs_p": null,
          "transcript": "NM_001197249.3",
          "protein_id": "NP_001184178.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 292,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 879,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3686,
          "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": 10,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "BTN3A2",
          "gene_hgnc_id": 1139,
          "hgvs_c": "c.*7-96A>G",
          "hgvs_p": null,
          "transcript": "ENST00000508906.6",
          "protein_id": "ENSP00000442687.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 292,
          "cds_start": -4,
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          "cds_length": 879,
          "cdna_start": null,
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          "cdna_length": 3733,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "BTN3A2",
          "gene_hgnc_id": 1139,
          "hgvs_c": "n.365-96A>G",
          "hgvs_p": null,
          "transcript": "ENST00000532294.1",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 402,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000291336",
          "gene_hgnc_id": null,
          "hgvs_c": "n.1000-178512A>G",
          "hgvs_p": null,
          "transcript": "ENST00000707189.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 2209,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000291338",
          "gene_hgnc_id": null,
          "hgvs_c": "n.1001-158030A>G",
          "hgvs_p": null,
          "transcript": "ENST00000707191.1",
          "protein_id": null,
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          "mane_select": null,
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 11,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "BTN3A2",
          "gene_hgnc_id": 1139,
          "hgvs_c": "c.*7-96A>G",
          "hgvs_p": null,
          "transcript": "XM_006714979.5",
          "protein_id": "XP_006715042.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 339,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1020,
          "cdna_start": null,
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          "cdna_length": 3791,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 11,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "BTN3A2",
          "gene_hgnc_id": 1139,
          "hgvs_c": "c.*7-96A>G",
          "hgvs_p": null,
          "transcript": "XM_006714980.5",
          "protein_id": "XP_006715043.1",
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          "cds_start": -4,
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          "cds_length": 1020,
          "cdna_start": null,
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          "cdna_length": 1618,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "BTN3A2",
          "gene_hgnc_id": 1139,
          "hgvs_c": "c.*7-96A>G",
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          "transcript": "XM_047418112.1",
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        {
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          ],
          "exon_rank": null,
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          "intron_rank": 9,
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          "gene_symbol": "BTN3A2",
          "gene_hgnc_id": 1139,
          "hgvs_c": "c.*7-96A>G",
          "hgvs_p": null,
          "transcript": "XM_047418113.1",
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        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
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          "exon_count": 11,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "BTN3A2",
          "gene_hgnc_id": 1139,
          "hgvs_c": "c.*7-96A>G",
          "hgvs_p": null,
          "transcript": "XM_005248827.5",
          "protein_id": "XP_005248884.1",
          "transcript_support_level": null,
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          "cds_start": -4,
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          "cds_length": 1005,
          "cdna_start": null,
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          "cdna_length": 1603,
          "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": 11,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "BTN3A2",
          "gene_hgnc_id": 1139,
          "hgvs_c": "c.*7-96A>G",
          "hgvs_p": null,
          "transcript": "XM_047418114.1",
          "protein_id": "XP_047274070.1",
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          "cds_start": -4,
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          "verdict": "Benign",
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          "effects": [
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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  "message": null
}