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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: 16-54020166-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=54020166&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 54020166,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "NM_001080432.3",
      "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": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "FTO",
          "gene_hgnc_id": 24678,
          "hgvs_c": "c.1364+86057G>A",
          "hgvs_p": null,
          "transcript": "NM_001080432.3",
          "protein_id": "NP_001073901.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 505,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1518,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 11573,
          "mane_select": "ENST00000471389.6",
          "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": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "FTO",
          "gene_hgnc_id": 24678,
          "hgvs_c": "c.1364+86057G>A",
          "hgvs_p": null,
          "transcript": "ENST00000471389.6",
          "protein_id": "ENSP00000418823.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 505,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1518,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 11573,
          "mane_select": "NM_001080432.3",
          "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": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "FTO",
          "gene_hgnc_id": 24678,
          "hgvs_c": "c.97+35212G>A",
          "hgvs_p": null,
          "transcript": "ENST00000268349.7",
          "protein_id": "ENSP00000268349.7",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 129,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 390,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2799,
          "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": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "FTO",
          "gene_hgnc_id": 24678,
          "hgvs_c": "c.230+86057G>A",
          "hgvs_p": null,
          "transcript": "ENST00000463855.1",
          "protein_id": "ENSP00000417843.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 127,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 384,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3056,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FTO",
          "gene_hgnc_id": 24678,
          "hgvs_c": "c.*54433G>A",
          "hgvs_p": null,
          "transcript": "XM_011523314.4",
          "protein_id": "XP_011521616.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 468,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1407,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 60005,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FTO",
          "gene_hgnc_id": 24678,
          "hgvs_c": "c.*11732G>A",
          "hgvs_p": null,
          "transcript": "XM_011523316.4",
          "protein_id": "XP_011521618.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 466,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1401,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 17298,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FTO",
          "gene_hgnc_id": 24678,
          "hgvs_c": "c.*54433G>A",
          "hgvs_p": null,
          "transcript": "XM_017023656.3",
          "protein_id": "XP_016879145.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 458,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1377,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 59975,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FTO",
          "gene_hgnc_id": 24678,
          "hgvs_c": "c.*11732G>A",
          "hgvs_p": null,
          "transcript": "XM_024450437.2",
          "protein_id": "XP_024306205.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 456,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1371,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 17268,
          "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": 8,
          "intron_rank_end": null,
          "gene_symbol": "FTO",
          "gene_hgnc_id": 24678,
          "hgvs_c": "c.1364+86057G>A",
          "hgvs_p": null,
          "transcript": "ENST00000637969.1",
          "protein_id": "ENSP00000490516.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 559,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1680,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2889,
          "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": 9,
          "intron_rank_end": null,
          "gene_symbol": "FTO",
          "gene_hgnc_id": 24678,
          "hgvs_c": "c.1427+86057G>A",
          "hgvs_p": null,
          "transcript": "NM_001363894.2",
          "protein_id": "NP_001350823.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 526,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1581,
          "cdna_start": null,
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          "cdna_length": 4162,
          "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,
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          "exon_count": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "FTO",
          "gene_hgnc_id": 24678,
          "hgvs_c": "c.1394+86057G>A",
          "hgvs_p": null,
          "transcript": "NM_001363891.2",
          "protein_id": "NP_001350820.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 515,
          "cds_start": -4,
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          "cds_length": 1548,
          "cdna_start": null,
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          "cdna_length": 4129,
          "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": 8,
          "intron_rank_end": null,
          "gene_symbol": "FTO",
          "gene_hgnc_id": 24678,
          "hgvs_c": "c.1346+63377G>A",
          "hgvs_p": null,
          "transcript": "NM_001363896.2",
          "protein_id": "NP_001350825.1",
          "transcript_support_level": 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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        },
        {
          "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": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "FTO",
          "gene_hgnc_id": 24678,
          "hgvs_c": "c.*22+63377G>A",
          "hgvs_p": null,
          "transcript": "NM_001363988.2",
          "protein_id": "NP_001350917.1",
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          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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        },
        {
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          "intron_rank": 8,
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          "gene_symbol": "FTO",
          "gene_hgnc_id": 24678,
          "hgvs_c": "c.1365-19179G>A",
          "hgvs_p": null,
          "transcript": "NM_001438128.1",
          "protein_id": "NP_001425057.1",
          "transcript_support_level": null,
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          "aa_length": 481,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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          "feature": null
        },
        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
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          "intron_rank": 7,
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          "gene_symbol": "FTO",
          "gene_hgnc_id": 24678,
          "hgvs_c": "c.1286+86057G>A",
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          "transcript": "NM_001363897.2",
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        {
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          "strand": true,
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          ],
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          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "FTO",
          "gene_hgnc_id": 24678,
          "hgvs_c": "c.1250+86057G>A",
          "hgvs_p": null,
          "transcript": "NM_001363898.2",
          "protein_id": "NP_001350827.1",
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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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        },
        {
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
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          ],
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          "exon_count": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "FTO",
          "gene_hgnc_id": 24678,
          "hgvs_c": "c.1250+86057G>A",
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          "transcript": "NM_001363899.2",
          "protein_id": "NP_001350828.1",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 8,
          "intron_rank": 7,
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          "gene_symbol": "FTO",
          "gene_hgnc_id": 24678,
          "hgvs_c": "c.1220+86057G>A",
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          "transcript": "NM_001363900.2",
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        {
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          "gene_symbol": "FTO",
          "gene_hgnc_id": 24678,
          "hgvs_c": "c.1220+86057G>A",
          "hgvs_p": null,
          "transcript": "NM_001363901.2",
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        },
        {
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          "strand": true,
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          ],
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          "intron_rank": 7,
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          "gene_symbol": "FTO",
          "gene_hgnc_id": 24678,
          "hgvs_c": "c.1240-91596G>A",
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          "transcript": "NM_001363903.2",
          "protein_id": "NP_001350832.1",
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          "cds_length": 1275,
          "cdna_start": null,
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          "cdna_length": 3974,
          "mane_select": null,
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          "feature": null
        },
        {
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          "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": 9,
          "intron_rank_end": null,
          "gene_symbol": "FTO",
          "gene_hgnc_id": 24678,
          "hgvs_c": "c.851+86057G>A",
          "hgvs_p": null,
          "transcript": "NM_001363905.2",
          "protein_id": "NP_001350834.1",
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          "cds_start": -4,
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}