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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: 9-16804084-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=16804084&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 16804084,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000380672.9",
      "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": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BNC2",
          "gene_hgnc_id": 30988,
          "hgvs_c": "c.4-65599T>C",
          "hgvs_p": null,
          "transcript": "NM_017637.6",
          "protein_id": "NP_060107.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1099,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3300,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 12808,
          "mane_select": "ENST00000380672.9",
          "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": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BNC2",
          "gene_hgnc_id": 30988,
          "hgvs_c": "c.4-65599T>C",
          "hgvs_p": null,
          "transcript": "ENST00000380672.9",
          "protein_id": "ENSP00000370047.3",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1099,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3300,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 12808,
          "mane_select": "NM_017637.6",
          "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": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BNC2",
          "gene_hgnc_id": 30988,
          "hgvs_c": "c.-394+66562T>C",
          "hgvs_p": null,
          "transcript": "ENST00000545497.5",
          "protein_id": "ENSP00000444640.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 729,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2190,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3750,
          "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": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BNC2",
          "gene_hgnc_id": 30988,
          "hgvs_c": "c.-106+63275T>C",
          "hgvs_p": null,
          "transcript": "ENST00000613349.4",
          "protein_id": "ENSP00000477717.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 39,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 122,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 561,
          "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": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BNC2",
          "gene_hgnc_id": 30988,
          "hgvs_c": "c.-232+63275T>C",
          "hgvs_p": null,
          "transcript": "ENST00000617779.1",
          "protein_id": "ENSP00000482793.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 39,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 122,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 687,
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BNC2",
          "gene_hgnc_id": 30988,
          "hgvs_c": "c.4-65599T>C",
          "hgvs_p": null,
          "transcript": "ENST00000380667.6",
          "protein_id": "ENSP00000370042.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1032,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3099,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3361,
          "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": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "BNC2",
          "gene_hgnc_id": 30988,
          "hgvs_c": "c.45+28160T>C",
          "hgvs_p": null,
          "transcript": "NM_001317940.2",
          "protein_id": "NP_001304869.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1004,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3015,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 12588,
          "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": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BNC2",
          "gene_hgnc_id": 30988,
          "hgvs_c": "c.3+66562T>C",
          "hgvs_p": null,
          "transcript": "NM_001317939.2",
          "protein_id": "NP_001304868.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 861,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2586,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 12738,
          "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": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BNC2",
          "gene_hgnc_id": 30988,
          "hgvs_c": "c.-106+63865T>C",
          "hgvs_p": null,
          "transcript": "ENST00000380666.6",
          "protein_id": "ENSP00000370041.3",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 293,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 884,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1211,
          "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": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BNC2",
          "gene_hgnc_id": 30988,
          "hgvs_c": "c.3+66562T>C",
          "hgvs_p": null,
          "transcript": "ENST00000486514.5",
          "protein_id": "ENSP00000474647.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 163,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 493,
          "cdna_start": null,
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          "cdna_length": 688,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 1,
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          "gene_symbol": "BNC2",
          "gene_hgnc_id": 30988,
          "hgvs_c": "n.4-65599T>C",
          "hgvs_p": null,
          "transcript": "ENST00000484726.5",
          "protein_id": "ENSP00000431516.1",
          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 4841,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "aa_alt": null,
          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "BNC2",
          "gene_hgnc_id": 30988,
          "hgvs_c": "c.45+28160T>C",
          "hgvs_p": null,
          "transcript": "XM_047423480.1",
          "protein_id": "XP_047279436.1",
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          "aa_length": 1188,
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          "cdna_start": null,
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        {
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          "consequences": [
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          "exon_count": 9,
          "intron_rank": 1,
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          "gene_symbol": "BNC2",
          "gene_hgnc_id": 30988,
          "hgvs_c": "c.45+28160T>C",
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          "transcript": "XM_047423481.1",
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          "cds_start": -4,
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        {
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          "gene_symbol": "BNC2",
          "gene_hgnc_id": 30988,
          "hgvs_c": "c.45+28160T>C",
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          "transcript": "XM_047423482.1",
          "protein_id": "XP_047279438.1",
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        {
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          "gene_symbol": "BNC2",
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          "gene_symbol": "BNC2",
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          "transcript": "XM_047423484.1",
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          "exon_count": 8,
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          "gene_symbol": "BNC2",
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          "protein_id": "XP_047279441.1",
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        },
        {
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          "gene_symbol": "BNC2",
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          "gene_symbol": "BNC2",
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          "hgvs_c": "c.4-65599T>C",
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          "gene_symbol": "BNC2",
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          "cdna_length": 12874,
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          "feature": null
        },
        {
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          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "BNC2",
          "gene_hgnc_id": 30988,
          "hgvs_c": "c.45+28160T>C",
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          "transcript": "XM_047423489.1",
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