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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: 1-92247041-GAAA-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=92247041&ref=GAAA&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 92247041,
      "ref": "GAAA",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "NM_053274.3",
      "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": 19,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "GLMN",
          "gene_hgnc_id": 14373,
          "hgvs_c": "c.1668+18_1668+20delTTT",
          "hgvs_p": null,
          "transcript": "NM_053274.3",
          "protein_id": "NP_444504.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 594,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1785,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000370360.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_053274.3"
        },
        {
          "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": 19,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "GLMN",
          "gene_hgnc_id": 14373,
          "hgvs_c": "c.1668+18_1668+20delTTT",
          "hgvs_p": null,
          "transcript": "ENST00000370360.8",
          "protein_id": "ENSP00000359385.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 594,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1785,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_053274.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000370360.8"
        },
        {
          "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": 18,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "GLMN",
          "gene_hgnc_id": 14373,
          "hgvs_c": "n.*329+18_*329+20delTTT",
          "hgvs_p": null,
          "transcript": "ENST00000495106.5",
          "protein_id": "ENSP00000436829.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000495106.5"
        },
        {
          "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": 20,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "GLMN",
          "gene_hgnc_id": 14373,
          "hgvs_c": "c.1734+18_1734+20delTTT",
          "hgvs_p": null,
          "transcript": "ENST00000931421.1",
          "protein_id": "ENSP00000601480.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 616,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1851,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000931421.1"
        },
        {
          "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": 19,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "GLMN",
          "gene_hgnc_id": 14373,
          "hgvs_c": "c.1704+18_1704+20delTTT",
          "hgvs_p": null,
          "transcript": "ENST00000896612.1",
          "protein_id": "ENSP00000566671.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 606,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1821,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000896612.1"
        },
        {
          "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": 19,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "GLMN",
          "gene_hgnc_id": 14373,
          "hgvs_c": "c.1668+18_1668+20delTTT",
          "hgvs_p": null,
          "transcript": "ENST00000896609.1",
          "protein_id": "ENSP00000566668.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 594,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1785,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000896609.1"
        },
        {
          "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": 18,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "GLMN",
          "gene_hgnc_id": 14373,
          "hgvs_c": "c.1626+18_1626+20delTTT",
          "hgvs_p": null,
          "transcript": "NM_001319683.2",
          "protein_id": "NP_001306612.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 580,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1743,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001319683.2"
        },
        {
          "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": 18,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "GLMN",
          "gene_hgnc_id": 14373,
          "hgvs_c": "c.1578+18_1578+20delTTT",
          "hgvs_p": null,
          "transcript": "ENST00000896610.1",
          "protein_id": "ENSP00000566669.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 564,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1695,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000896610.1"
        },
        {
          "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": 18,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "GLMN",
          "gene_hgnc_id": 14373,
          "hgvs_c": "c.1548+18_1548+20delTTT",
          "hgvs_p": null,
          "transcript": "ENST00000931417.1",
          "protein_id": "ENSP00000601476.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 554,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1665,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000931417.1"
        },
        {
          "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": 18,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "GLMN",
          "gene_hgnc_id": 14373,
          "hgvs_c": "c.1542+18_1542+20delTTT",
          "hgvs_p": null,
          "transcript": "ENST00000896611.1",
          "protein_id": "ENSP00000566670.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 552,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1659,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000896611.1"
        },
        {
          "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": 17,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "GLMN",
          "gene_hgnc_id": 14373,
          "hgvs_c": "c.1536+18_1536+20delTTT",
          "hgvs_p": null,
          "transcript": "ENST00000931420.1",
          "protein_id": "ENSP00000601479.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 550,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1653,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000931420.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "GLMN",
          "gene_hgnc_id": 14373,
          "hgvs_c": "c.1474-398_1474-396delTTT",
          "hgvs_p": null,
          "transcript": "ENST00000946567.1",
          "protein_id": "ENSP00000616626.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 529,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000946567.1"
        },
        {
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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": 15,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "GLMN",
          "gene_hgnc_id": 14373,
          "hgvs_c": "c.1098+18_1098+20delTTT",
          "hgvs_p": null,
          "transcript": "ENST00000931415.1",
          "protein_id": "ENSP00000601474.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 11,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "GLMN",
          "gene_hgnc_id": 14373,
          "hgvs_c": "c.735+18_735+20delTTT",
          "hgvs_p": null,
          "transcript": "ENST00000896608.1",
          "protein_id": "ENSP00000566667.1",
          "transcript_support_level": null,
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          "cds_start": null,
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        },
        {
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          ],
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          "gene_symbol": "GLMN",
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          "hgvs_c": "c.360+18_360+20delTTT",
          "hgvs_p": null,
          "transcript": "ENST00000931416.1",
          "protein_id": "ENSP00000601475.1",
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          "cds_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000931416.1"
        },
        {
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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": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GLMN",
          "gene_hgnc_id": 14373,
          "hgvs_c": "c.234+18_234+20delTTT",
          "hgvs_p": null,
          "transcript": "ENST00000931419.1",
          "protein_id": "ENSP00000601478.1",
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          "cds_start": null,
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        },
        {
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          "canonical": false,
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          ],
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          "exon_count": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GLMN",
          "gene_hgnc_id": 14373,
          "hgvs_c": "c.166-398_166-396delTTT",
          "hgvs_p": null,
          "transcript": "ENST00000931418.1",
          "protein_id": "ENSP00000601477.1",
          "transcript_support_level": null,
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        {
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          ],
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          "intron_rank_end": null,
          "gene_symbol": "GLMN",
          "gene_hgnc_id": 14373,
          "hgvs_c": "c.1767+18_1767+20delTTT",
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          "transcript": "XM_017000137.2",
          "protein_id": "XP_016855626.1",
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          "feature": "XM_017000137.2"
        },
        {
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          "exon_count": 18,
          "intron_rank": 17,
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          "gene_symbol": "GLMN",
          "gene_hgnc_id": 14373,
          "hgvs_c": "c.1725+18_1725+20delTTT",
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          "protein_id": "XP_016855627.1",
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          "biotype": "protein_coding",
          "feature": "XM_017000138.2"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "GLMN",
          "gene_hgnc_id": 14373,
          "hgvs_c": "c.1668+18_1668+20delTTT",
          "hgvs_p": null,
          "transcript": "XM_011540546.3",
          "protein_id": "XP_011538848.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 594,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
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          "biotype": "protein_coding",
          "feature": "XM_011540546.3"
        },
        {
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}