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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: 18-3597527-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=3597527&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "18",
      "pos": 3597527,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000315677.8",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DLGAP1-AS1",
          "gene_hgnc_id": 31676,
          "hgvs_c": "n.1156G>A",
          "hgvs_p": null,
          "transcript": "ENST00000317114.4",
          "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": 1981,
          "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": 13,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "DLGAP1",
          "gene_hgnc_id": 2905,
          "hgvs_c": "c.1592-15279C>T",
          "hgvs_p": null,
          "transcript": "NM_004746.4",
          "protein_id": "NP_004737.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 977,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2934,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6655,
          "mane_select": "ENST00000315677.8",
          "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": 13,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "DLGAP1",
          "gene_hgnc_id": 2905,
          "hgvs_c": "c.1592-15279C>T",
          "hgvs_p": null,
          "transcript": "ENST00000315677.8",
          "protein_id": "ENSP00000316377.3",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 977,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2934,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6655,
          "mane_select": "NM_004746.4",
          "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": 10,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "DLGAP1",
          "gene_hgnc_id": 2905,
          "hgvs_c": "c.686-15279C>T",
          "hgvs_p": null,
          "transcript": "ENST00000400147.6",
          "protein_id": "ENSP00000383011.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 675,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2028,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5258,
          "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": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "DLGAP1",
          "gene_hgnc_id": 2905,
          "hgvs_c": "c.686-15279C>T",
          "hgvs_p": null,
          "transcript": "ENST00000400145.6",
          "protein_id": "ENSP00000383010.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 627,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1884,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2188,
          "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": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DLGAP1-AS1",
          "gene_hgnc_id": 31676,
          "hgvs_c": "n.1133G>A",
          "hgvs_p": null,
          "transcript": "ENST00000577995.6",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": 1558,
          "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": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DLGAP1-AS1",
          "gene_hgnc_id": 31676,
          "hgvs_c": "n.388G>A",
          "hgvs_p": null,
          "transcript": "ENST00000669270.1",
          "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,
          "cdna_end": null,
          "cdna_length": 1224,
          "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": 14,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "DLGAP1",
          "gene_hgnc_id": 2905,
          "hgvs_c": "c.1622-15279C>T",
          "hgvs_p": null,
          "transcript": "NM_001398525.1",
          "protein_id": "NP_001385454.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 987,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2964,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6685,
          "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": 14,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "DLGAP1",
          "gene_hgnc_id": 2905,
          "hgvs_c": "c.1622-15279C>T",
          "hgvs_p": null,
          "transcript": "NM_001398526.1",
          "protein_id": "NP_001385455.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 987,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2964,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6680,
          "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": 13,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "DLGAP1",
          "gene_hgnc_id": 2905,
          "hgvs_c": "c.1592-15279C>T",
          "hgvs_p": null,
          "transcript": "NM_001398527.1",
          "protein_id": "NP_001385456.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 977,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2934,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6650,
          "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": 13,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "DLGAP1",
          "gene_hgnc_id": 2905,
          "hgvs_c": "c.1622-15279C>T",
          "hgvs_p": null,
          "transcript": "NM_001398528.1",
          "protein_id": "NP_001385457.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 939,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2820,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3659,
          "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": 12,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "DLGAP1",
          "gene_hgnc_id": 2905,
          "hgvs_c": "c.1592-15279C>T",
          "hgvs_p": null,
          "transcript": "NM_001242761.2",
          "protein_id": "NP_001229690.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 929,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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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": 12,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "DLGAP1",
          "gene_hgnc_id": 2905,
          "hgvs_c": "c.1592-15279C>T",
          "hgvs_p": null,
          "transcript": "ENST00000581527.5",
          "protein_id": "ENSP00000463864.1",
          "transcript_support_level": 2,
          "aa_start": null,
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          "aa_length": 929,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 3525,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
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          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 12,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "DLGAP1",
          "gene_hgnc_id": 2905,
          "hgvs_c": "c.872-15279C>T",
          "hgvs_p": null,
          "transcript": "NM_001398530.1",
          "protein_id": "NP_001385459.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 737,
          "cds_start": -4,
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          "cds_length": 2214,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5421,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "DLGAP1",
          "gene_hgnc_id": 2905,
          "hgvs_c": "c.854-15279C>T",
          "hgvs_p": null,
          "transcript": "NM_001398531.1",
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          "mane_select": null,
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        },
        {
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          "consequences": [
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          ],
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          "exon_count": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "DLGAP1",
          "gene_hgnc_id": 2905,
          "hgvs_c": "c.758-15279C>T",
          "hgvs_p": null,
          "transcript": "NM_001242763.2",
          "protein_id": "NP_001229692.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 699,
          "cds_start": -4,
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          "cds_length": 2100,
          "cdna_start": null,
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          "cdna_length": 5307,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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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": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "DLGAP1",
          "gene_hgnc_id": 2905,
          "hgvs_c": "c.758-15279C>T",
          "hgvs_p": null,
          "transcript": "ENST00000515196.6",
          "protein_id": "ENSP00000445973.2",
          "transcript_support_level": 2,
          "aa_start": null,
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          "aa_length": 699,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "DLGAP1",
          "gene_hgnc_id": 2905,
          "hgvs_c": "c.746-15279C>T",
          "hgvs_p": null,
          "transcript": "NM_001398532.1",
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        },
        {
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          ],
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          "exon_count": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "DLGAP1",
          "gene_hgnc_id": 2905,
          "hgvs_c": "c.740-15279C>T",
          "hgvs_p": null,
          "transcript": "NM_001308390.2",
          "protein_id": "NP_001295319.1",
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        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "DLGAP1",
          "gene_hgnc_id": 2905,
          "hgvs_c": "c.740-15279C>T",
          "hgvs_p": null,
          "transcript": "ENST00000400150.7",
          "protein_id": "ENSP00000383014.3",
          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": 693,
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          "cdna_start": null,
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          "cdna_length": 5332,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "DLGAP1",
          "gene_hgnc_id": 2905,
          "hgvs_c": "c.728-15279C>T",
          "hgvs_p": null,
          "transcript": "NM_001398533.1",
          "protein_id": "NP_001385462.1",
          "transcript_support_level": null,
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}