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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: 13-33523513-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=33523513&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "13",
      "pos": 33523513,
      "ref": "C",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "NM_001243476.3",
      "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": 18,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "STARD13",
          "gene_hgnc_id": 19164,
          "hgvs_c": "c.30+725G>T",
          "hgvs_p": null,
          "transcript": "NM_001243476.3",
          "protein_id": "NP_001230405.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1078,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3237,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001243476.3"
        },
        {
          "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": 16,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "STARD13",
          "gene_hgnc_id": 19164,
          "hgvs_c": "c.165+725G>T",
          "hgvs_p": null,
          "transcript": "XM_047430759.1",
          "protein_id": "XP_047286715.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1123,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3372,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047430759.1"
        },
        {
          "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": 16,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "STARD13",
          "gene_hgnc_id": 19164,
          "hgvs_c": "c.30+725G>T",
          "hgvs_p": null,
          "transcript": "XM_017020835.3",
          "protein_id": "XP_016876324.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1078,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3237,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017020835.3"
        },
        {
          "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": 16,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "STARD13",
          "gene_hgnc_id": 19164,
          "hgvs_c": "c.30+725G>T",
          "hgvs_p": null,
          "transcript": "XM_024449429.2",
          "protein_id": "XP_024305197.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1078,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3237,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_024449429.2"
        },
        {
          "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": 16,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "STARD13",
          "gene_hgnc_id": 19164,
          "hgvs_c": "c.30+725G>T",
          "hgvs_p": null,
          "transcript": "XM_047430760.1",
          "protein_id": "XP_047286716.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1078,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3237,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047430760.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "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": "ENSG00000230490",
          "gene_hgnc_id": null,
          "hgvs_c": "n.1003G>T",
          "hgvs_p": null,
          "transcript": "ENST00000730896.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": "pseudogene",
          "feature": "ENST00000730896.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "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": "ENSG00000230490",
          "gene_hgnc_id": null,
          "hgvs_c": "n.1133G>T",
          "hgvs_p": null,
          "transcript": "ENST00000730897.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": "pseudogene",
          "feature": "ENST00000730897.1"
        },
        {
          "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": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000230490",
          "gene_hgnc_id": null,
          "hgvs_c": "n.85+725G>T",
          "hgvs_p": null,
          "transcript": "ENST00000437698.1",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": "pseudogene",
          "feature": "ENST00000437698.1"
        },
        {
          "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": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000230490",
          "gene_hgnc_id": null,
          "hgvs_c": "n.226+725G>T",
          "hgvs_p": null,
          "transcript": "ENST00000454681.2",
          "protein_id": null,
          "transcript_support_level": 5,
          "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": "pseudogene",
          "feature": "ENST00000454681.2"
        },
        {
          "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": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000230490",
          "gene_hgnc_id": null,
          "hgvs_c": "n.278+725G>T",
          "hgvs_p": null,
          "transcript": "ENST00000686875.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": "pseudogene",
          "feature": "ENST00000686875.1"
        },
        {
          "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": 7,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000230490",
          "gene_hgnc_id": null,
          "hgvs_c": "n.629+725G>T",
          "hgvs_p": null,
          "transcript": "ENST00000730869.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
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          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000730869.1"
        },
        {
          "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": 5,
          "intron_rank": 2,
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          "gene_symbol": "ENSG00000230490",
          "gene_hgnc_id": null,
          "hgvs_c": "n.293+725G>T",
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          "transcript": "ENST00000730870.1",
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
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        },
        {
          "aa_ref": null,
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          "strand": false,
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          ],
          "exon_rank": null,
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          "intron_rank": 3,
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          "gene_symbol": "ENSG00000230490",
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          "hgvs_c": "n.345+725G>T",
          "hgvs_p": null,
          "transcript": "ENST00000730871.1",
          "protein_id": null,
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        },
        {
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          "strand": false,
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          ],
          "exon_rank": null,
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          "exon_count": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000230490",
          "gene_hgnc_id": null,
          "hgvs_c": "n.321+725G>T",
          "hgvs_p": null,
          "transcript": "ENST00000730872.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "mane_select": null,
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          "biotype": "pseudogene",
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        },
        {
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          ],
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        },
        {
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          "consequences": [
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          ],
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          "exon_count": 8,
          "intron_rank": 4,
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          "gene_symbol": "ENSG00000230490",
          "gene_hgnc_id": null,
          "hgvs_c": "n.568+725G>T",
          "hgvs_p": null,
          "transcript": "ENST00000730874.1",
          "protein_id": null,
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          "biotype": "pseudogene",
          "feature": "ENST00000730874.1"
        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "exon_count": 6,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000230490",
          "gene_hgnc_id": null,
          "hgvs_c": "n.354+725G>T",
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          "transcript": "ENST00000730875.1",
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          "biotype": "pseudogene",
          "feature": "ENST00000730875.1"
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "intron_rank": 2,
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          "gene_symbol": "ENSG00000230490",
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          "hgvs_c": "n.269+725G>T",
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        {
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          ],
          "exon_rank": null,
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          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000230490",
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          "hgvs_c": "n.567+725G>T",
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          "transcript": "ENST00000730877.1",
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        },
        {
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          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000230490",
          "gene_hgnc_id": null,
          "hgvs_c": "n.256+725G>T",
          "hgvs_p": null,
          "transcript": "ENST00000730878.1",
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          "aa_start": null,
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          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000730878.1"
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000230490",
          "gene_hgnc_id": null,
          "hgvs_c": "n.298+725G>T",
          "hgvs_p": null,
          "transcript": "ENST00000730879.1",
          "protein_id": null,
          "transcript_support_level": null,
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      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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      "custom_annotations": null
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}