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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: 11-118650844-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=118650844&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 118650844,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000600882.6",
      "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": 23,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "c.3874+297A>G",
          "hgvs_p": null,
          "transcript": "NM_001144758.3",
          "protein_id": "NP_001138230.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1377,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4134,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5445,
          "mane_select": "ENST00000600882.6",
          "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": 23,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "c.3874+297A>G",
          "hgvs_p": null,
          "transcript": "ENST00000600882.6",
          "protein_id": "ENSP00000469820.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1377,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4134,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5445,
          "mane_select": "NM_001144758.3",
          "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": 24,
          "intron_rank": 21,
          "intron_rank_end": null,
          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "c.3874+297A>G",
          "hgvs_p": null,
          "transcript": "ENST00000361417.6",
          "protein_id": "ENSP00000354498.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1377,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4134,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5753,
          "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": 18,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "n.3813+297A>G",
          "hgvs_p": null,
          "transcript": "ENST00000532517.5",
          "protein_id": null,
          "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": 5242,
          "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": 16,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "n.2010+297A>G",
          "hgvs_p": null,
          "transcript": "ENST00000614369.4",
          "protein_id": null,
          "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": 3442,
          "mane_select": null,
          "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": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "n.244A>G",
          "hgvs_p": null,
          "transcript": "ENST00000620788.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 5898,
          "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": 24,
          "intron_rank": 21,
          "intron_rank_end": null,
          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "c.3874+297A>G",
          "hgvs_p": null,
          "transcript": "NM_015157.4",
          "protein_id": "NP_055972.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1377,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4134,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5754,
          "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": 21,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "c.3733+297A>G",
          "hgvs_p": null,
          "transcript": "NM_001144759.3",
          "protein_id": "NP_001138231.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1319,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3960,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5271,
          "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": 21,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "c.3733+297A>G",
          "hgvs_p": null,
          "transcript": "ENST00000356063.9",
          "protein_id": "ENSP00000348359.5",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1319,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3960,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5240,
          "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": 15,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "c.1699+297A>G",
          "hgvs_p": null,
          "transcript": "ENST00000534140.2",
          "protein_id": "ENSP00000482728.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 641,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1926,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3128,
          "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": 11,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "n.1346+297A>G",
          "hgvs_p": null,
          "transcript": "ENST00000524713.5",
          "protein_id": null,
          "transcript_support_level": 5,
          "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": 1591,
          "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": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "n.1963+297A>G",
          "hgvs_p": null,
          "transcript": "ENST00000526537.2",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 2519,
          "mane_select": null,
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        },
        {
          "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": 13,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "n.1492+297A>G",
          "hgvs_p": null,
          "transcript": "ENST00000527898.5",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 2921,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 21,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "n.*1262+297A>G",
          "hgvs_p": null,
          "transcript": "ENST00000528594.5",
          "protein_id": "ENSP00000435520.1",
          "transcript_support_level": 2,
          "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": 5787,
          "mane_select": null,
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          "biotype": null,
          "feature": 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": 22,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "n.*1262+297A>G",
          "hgvs_p": null,
          "transcript": "ENST00000530994.5",
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        {
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          "canonical": false,
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          ],
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          "exon_count": 27,
          "intron_rank": 24,
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          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "c.4501+297A>G",
          "hgvs_p": null,
          "transcript": "XM_011542703.3",
          "protein_id": "XP_011541005.1",
          "transcript_support_level": null,
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          "aa_length": 1586,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 6673,
          "mane_select": null,
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          "biotype": null,
          "feature": 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": 27,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "c.4498+297A>G",
          "hgvs_p": null,
          "transcript": "XM_005277680.4",
          "protein_id": "XP_005277737.1",
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "c.4501+297A>G",
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          "protein_id": "XP_011541006.1",
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        {
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          "intron_rank": 23,
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          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "c.4456+297A>G",
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          "transcript": "XM_011542705.3",
          "protein_id": "XP_011541007.1",
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        },
        {
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          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 25,
          "intron_rank": 23,
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          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "c.4456+297A>G",
          "hgvs_p": null,
          "transcript": "XM_011542706.3",
          "protein_id": "XP_011541008.1",
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          "cds_length": 4683,
          "cdna_start": null,
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          "cdna_length": 6595,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "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": 26,
          "intron_rank": 23,
          "intron_rank_end": null,
          "gene_symbol": "PHLDB1",
          "gene_hgnc_id": 23697,
          "hgvs_c": "c.4372+297A>G",
          "hgvs_p": null,
          "transcript": "XM_011542707.3",
          "protein_id": "XP_011541009.1",
          "transcript_support_level": null,
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          "aa_length": 1543,
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          "cds_length": 4632,
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