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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: 11-72080798-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72080798&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 72080798,
      "ref": "G",
      "alt": "C",
      "effect": "5_prime_UTR_variant",
      "transcript": "ENST00000307198.11",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRTOMT",
          "gene_hgnc_id": 25033,
          "hgvs_c": "c.-409G>C",
          "hgvs_p": null,
          "transcript": "ENST00000307198.11",
          "protein_id": "ENSP00000305742.7",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 291,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 876,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3604,
          "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": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "LRRC51",
          "gene_hgnc_id": 55526,
          "hgvs_c": "n.-140+36G>C",
          "hgvs_p": null,
          "transcript": "ENST00000535883.6",
          "protein_id": "ENSP00000437561.1",
          "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": 1154,
          "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": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRRC51",
          "gene_hgnc_id": 55526,
          "hgvs_c": "n.22G>C",
          "hgvs_p": null,
          "transcript": "ENST00000412777.6",
          "protein_id": null,
          "transcript_support_level": 4,
          "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": 548,
          "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": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRRC51",
          "gene_hgnc_id": 55526,
          "hgvs_c": "n.233G>C",
          "hgvs_p": null,
          "transcript": "ENST00000642813.1",
          "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": 695,
          "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": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRTOMT",
          "gene_hgnc_id": 25033,
          "hgvs_c": "n.-420G>C",
          "hgvs_p": null,
          "transcript": "ENST00000646163.1",
          "protein_id": "ENSP00000494749.1",
          "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": 773,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRRC51",
          "gene_hgnc_id": 55526,
          "hgvs_c": "c.-143G>C",
          "hgvs_p": null,
          "transcript": "ENST00000538413.6",
          "protein_id": "ENSP00000438762.2",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 192,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 579,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1619,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRRC51",
          "gene_hgnc_id": 55526,
          "hgvs_c": "c.-390G>C",
          "hgvs_p": null,
          "transcript": "ENST00000647530.1",
          "protein_id": "ENSP00000494072.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 192,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 579,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1247,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRRC51",
          "gene_hgnc_id": 55526,
          "hgvs_c": "c.-420G>C",
          "hgvs_p": null,
          "transcript": "ENST00000642510.1",
          "protein_id": "ENSP00000496544.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 54,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 165,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2049,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRTOMT",
          "gene_hgnc_id": 25033,
          "hgvs_c": "n.-420G>C",
          "hgvs_p": null,
          "transcript": "ENST00000646163.1",
          "protein_id": "ENSP00000494749.1",
          "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": 773,
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "LRRC51",
          "gene_hgnc_id": 55526,
          "hgvs_c": "c.-140+36G>C",
          "hgvs_p": null,
          "transcript": "ENST00000642648.1",
          "protein_id": "ENSP00000494362.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 192,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 579,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2457,
          "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": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "LRRC51",
          "gene_hgnc_id": 55526,
          "hgvs_c": "c.-333+36G>C",
          "hgvs_p": null,
          "transcript": "ENST00000539271.6",
          "protein_id": "ENSP00000442267.2",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 54,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 165,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 728,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRRC51",
          "gene_hgnc_id": 55526,
          "hgvs_c": "c.-227G>C",
          "hgvs_p": null,
          "transcript": "NM_145309.6",
          "protein_id": "NP_660352.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 192,
          "cds_start": -4,
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          "cds_length": 579,
          "cdna_start": null,
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          "cdna_length": 2129,
          "mane_select": "ENST00000289488.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRRC51",
          "gene_hgnc_id": 55526,
          "hgvs_c": "c.-227G>C",
          "hgvs_p": null,
          "transcript": "ENST00000289488.8",
          "protein_id": "ENSP00000289488.2",
          "transcript_support_level": 1,
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          "aa_length": 192,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 579,
          "cdna_start": null,
          "cdna_end": null,
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          "mane_select": "NM_145309.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRRC51",
          "gene_hgnc_id": 55526,
          "hgvs_c": "c.-227G>C",
          "hgvs_p": null,
          "transcript": "ENST00000324866.11",
          "protein_id": "ENSP00000440693.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 146,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 441,
          "cdna_start": null,
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          "cdna_length": 2402,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRTOMT",
          "gene_hgnc_id": 25033,
          "hgvs_c": "n.-227G>C",
          "hgvs_p": null,
          "transcript": "ENST00000427369.6",
          "protein_id": "ENSP00000409403.2",
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NUMA1",
          "gene_hgnc_id": 8059,
          "hgvs_c": "n.-105C>G",
          "hgvs_p": null,
          "transcript": "ENST00000543450.1",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
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          "aa_length": null,
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          "cdna_start": null,
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          "cdna_length": 3339,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRTOMT",
          "gene_hgnc_id": 25033,
          "hgvs_c": "n.-227G>C",
          "hgvs_p": null,
          "transcript": "ENST00000544409.5",
          "protein_id": "ENSP00000440969.1",
          "transcript_support_level": 1,
          "aa_start": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NUMA1",
          "gene_hgnc_id": 8059,
          "hgvs_c": "c.-443C>G",
          "hgvs_p": null,
          "transcript": "ENST00000613205.4",
          "protein_id": "ENSP00000480172.1",
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "LRTOMT",
          "gene_hgnc_id": 25033,
          "hgvs_c": "c.-409G>C",
          "hgvs_p": null,
          "transcript": "NM_001145308.5",
          "protein_id": "NP_001138780.1",
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        },
        {
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          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
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          "intron_rank": null,
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          "gene_symbol": "LRTOMT",
          "gene_hgnc_id": 25033,
          "hgvs_c": "c.-630G>C",
          "hgvs_p": null,
          "transcript": "NM_001145309.4",
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          "cdna_start": null,
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          "cdna_length": 3311,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRTOMT",
          "gene_hgnc_id": 25033,
          "hgvs_c": "c.-630G>C",
          "hgvs_p": null,
          "transcript": "NM_001145310.4",
          "protein_id": "NP_001138782.1",
          "transcript_support_level": null,
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          "cds_start": -4,
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          "cds_length": 756,
          "cdna_start": null,
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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  "message": null
}