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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: 18-77003793-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=77003793&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "18",
      "pos": 77003793,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000355994.7",
      "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": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "MBP",
          "gene_hgnc_id": 6925,
          "hgvs_c": "c.576+13039A>G",
          "hgvs_p": null,
          "transcript": "NM_001025101.2",
          "protein_id": "NP_001020272.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 304,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 915,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2738,
          "mane_select": "ENST00000355994.7",
          "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": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "MBP",
          "gene_hgnc_id": 6925,
          "hgvs_c": "c.576+13039A>G",
          "hgvs_p": null,
          "transcript": "ENST00000355994.7",
          "protein_id": "ENSP00000348273.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 304,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 915,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2738,
          "mane_select": "NM_001025101.2",
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "MBP",
          "gene_hgnc_id": 6925,
          "hgvs_c": "c.255+6056A>G",
          "hgvs_p": null,
          "transcript": "ENST00000382582.7",
          "protein_id": "ENSP00000372025.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 197,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 594,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2281,
          "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": "MBP",
          "gene_hgnc_id": 6925,
          "hgvs_c": "c.255+6056A>G",
          "hgvs_p": null,
          "transcript": "ENST00000359645.7",
          "protein_id": "ENSP00000352667.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 186,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 561,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1255,
          "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": "MBP",
          "gene_hgnc_id": 6925,
          "hgvs_c": "c.177+13039A>G",
          "hgvs_p": null,
          "transcript": "ENST00000397866.8",
          "protein_id": "ENSP00000380964.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 171,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 516,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2145,
          "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": "MBP",
          "gene_hgnc_id": 6925,
          "hgvs_c": "c.177+13039A>G",
          "hgvs_p": null,
          "transcript": "ENST00000397865.9",
          "protein_id": "ENSP00000380963.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 160,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 483,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2127,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 1,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000279811",
          "gene_hgnc_id": null,
          "hgvs_c": "n.3054A>G",
          "hgvs_p": null,
          "transcript": "ENST00000624814.1",
          "protein_id": null,
          "transcript_support_level": 6,
          "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": 3998,
          "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": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "MBP",
          "gene_hgnc_id": 6925,
          "hgvs_c": "c.576+13039A>G",
          "hgvs_p": null,
          "transcript": "ENST00000580402.5",
          "protein_id": "ENSP00000462223.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 304,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 915,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 915,
          "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": 4,
          "intron_rank_end": null,
          "gene_symbol": "MBP",
          "gene_hgnc_id": 6925,
          "hgvs_c": "c.576+13039A>G",
          "hgvs_p": null,
          "transcript": "ENST00000579129.5",
          "protein_id": "ENSP00000463780.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 253,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 762,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1052,
          "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": "MBP",
          "gene_hgnc_id": 6925,
          "hgvs_c": "c.177+13039A>G",
          "hgvs_p": null,
          "transcript": "ENST00000397869.7",
          "protein_id": "ENSP00000380967.3",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 236,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 711,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 884,
          "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,
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          "exon_count": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "MBP",
          "gene_hgnc_id": 6925,
          "hgvs_c": "c.255+6056A>G",
          "hgvs_p": null,
          "transcript": "NM_001025081.2",
          "protein_id": "NP_001020252.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 197,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 594,
          "cdna_start": null,
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          "cdna_length": 2235,
          "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": "MBP",
          "gene_hgnc_id": 6925,
          "hgvs_c": "c.255+6056A>G",
          "hgvs_p": null,
          "transcript": "NM_002385.3",
          "protein_id": "NP_002376.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 186,
          "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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          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
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          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MBP",
          "gene_hgnc_id": 6925,
          "hgvs_c": "c.177+13039A>G",
          "hgvs_p": null,
          "transcript": "ENST00000397875.7",
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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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          "consequences": [
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          ],
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          "intron_rank": 1,
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          "gene_symbol": "MBP",
          "gene_hgnc_id": 6925,
          "hgvs_c": "c.177+13039A>G",
          "hgvs_p": null,
          "transcript": "NM_001025090.2",
          "protein_id": "NP_001020261.1",
          "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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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 5,
          "intron_rank": 2,
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          "gene_symbol": "MBP",
          "gene_hgnc_id": 6925,
          "hgvs_c": "c.255+6056A>G",
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        {
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          "gene_symbol": "MBP",
          "gene_hgnc_id": 6925,
          "hgvs_c": "c.177+13039A>G",
          "hgvs_p": null,
          "transcript": "NM_001025092.2",
          "protein_id": "NP_001020263.1",
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          "cds_start": -4,
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          "mane_select": null,
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        },
        {
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          "canonical": false,
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          "consequences": [
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          ],
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          "exon_count": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MBP",
          "gene_hgnc_id": 6925,
          "hgvs_c": "c.177+13039A>G",
          "hgvs_p": null,
          "transcript": "ENST00000578193.5",
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          "mane_select": null,
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          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "MBP",
          "gene_hgnc_id": 6925,
          "hgvs_c": "c.111+13039A>G",
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          "transcript": "ENST00000526111.5",
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          "gene_symbol": "MBP",
          "gene_hgnc_id": 6925,
          "hgvs_c": "c.177+13039A>G",
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        {
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          ],
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          "gene_symbol": "MBP",
          "gene_hgnc_id": 6925,
          "hgvs_c": "c.9+6056A>G",
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          "transcript": "ENST00000447114.5",
          "protein_id": "ENSP00000405882.1",
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          "cdna_start": null,
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          "cdna_length": 569,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "MBP",
          "gene_hgnc_id": 6925,
          "hgvs_c": "c.177+13039A>G",
          "hgvs_p": null,
          "transcript": "ENST00000498683.2",
          "protein_id": "ENSP00000437063.1",
          "transcript_support_level": 4,
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          "cdna_start": null,
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      "clinvar_classification": "",
      "clinvar_review_status": "",
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}