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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: 4-3038860-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=3038860&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "4",
      "pos": 3038860,
      "ref": "T",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000398052.9",
      "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": 16,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "GRK4",
          "gene_hgnc_id": 4543,
          "hgvs_c": "c.1683+347T>A",
          "hgvs_p": null,
          "transcript": "NM_182982.3",
          "protein_id": "NP_892027.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 578,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1737,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2372,
          "mane_select": "ENST00000398052.9",
          "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": 16,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "GRK4",
          "gene_hgnc_id": 4543,
          "hgvs_c": "c.1683+347T>A",
          "hgvs_p": null,
          "transcript": "ENST00000398052.9",
          "protein_id": "ENSP00000381129.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 578,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1737,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2372,
          "mane_select": "NM_182982.3",
          "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": 15,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "GRK4",
          "gene_hgnc_id": 4543,
          "hgvs_c": "c.1587+347T>A",
          "hgvs_p": null,
          "transcript": "ENST00000345167.10",
          "protein_id": "ENSP00000264764.8",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 546,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1641,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2013,
          "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": 14,
          "intron_rank_end": null,
          "gene_symbol": "GRK4",
          "gene_hgnc_id": 4543,
          "hgvs_c": "c.1545+1349T>A",
          "hgvs_p": null,
          "transcript": "ENST00000504933.1",
          "protein_id": "ENSP00000427445.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 532,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1599,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1971,
          "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": 14,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "GRK4",
          "gene_hgnc_id": 4543,
          "hgvs_c": "c.1449+1349T>A",
          "hgvs_p": null,
          "transcript": "ENST00000398051.8",
          "protein_id": "ENSP00000381128.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 500,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1503,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2068,
          "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": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GRK4",
          "gene_hgnc_id": 4543,
          "hgvs_c": "n.813T>A",
          "hgvs_p": null,
          "transcript": "ENST00000509545.5",
          "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": 831,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GRK4",
          "gene_hgnc_id": 4543,
          "hgvs_c": "c.*201T>A",
          "hgvs_p": null,
          "transcript": "XM_011513448.3",
          "protein_id": "XP_011511750.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 611,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1836,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2662,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GRK4",
          "gene_hgnc_id": 4543,
          "hgvs_c": "c.*201T>A",
          "hgvs_p": null,
          "transcript": "XM_011513452.3",
          "protein_id": "XP_011511754.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 565,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1698,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2525,
          "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": 14,
          "intron_rank_end": null,
          "gene_symbol": "GRK4",
          "gene_hgnc_id": 4543,
          "hgvs_c": "c.1587+347T>A",
          "hgvs_p": null,
          "transcript": "NM_001004056.2",
          "protein_id": "NP_001004056.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 546,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1641,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2276,
          "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": 14,
          "intron_rank_end": null,
          "gene_symbol": "GRK4",
          "gene_hgnc_id": 4543,
          "hgvs_c": "c.1545+1349T>A",
          "hgvs_p": null,
          "transcript": "NM_001004057.2",
          "protein_id": "NP_001004057.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 532,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1599,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2234,
          "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": 14,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "GRK4",
          "gene_hgnc_id": 4543,
          "hgvs_c": "c.1449+1349T>A",
          "hgvs_p": null,
          "transcript": "NM_005307.3",
          "protein_id": "NP_005298.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 500,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1503,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2138,
          "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": 14,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "GRK4",
          "gene_hgnc_id": 4543,
          "hgvs_c": "c.1101+347T>A",
          "hgvs_p": null,
          "transcript": "NM_001350173.2",
          "protein_id": "NP_001337102.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 384,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 2127,
          "mane_select": null,
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          "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": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GRK4",
          "gene_hgnc_id": 4543,
          "hgvs_c": "n.340-1712T>A",
          "hgvs_p": null,
          "transcript": "ENST00000505271.5",
          "protein_id": null,
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "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": true,
          "consequences": [
            "intron_variant"
          ],
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          "exon_count": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GRK4",
          "gene_hgnc_id": 4543,
          "hgvs_c": "n.438+1349T>A",
          "hgvs_p": null,
          "transcript": "ENST00000511827.5",
          "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": 614,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": "ENSG00000296061",
          "gene_hgnc_id": 58716,
          "hgvs_c": "n.483-475A>T",
          "hgvs_p": null,
          "transcript": "ENST00000735994.1",
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        {
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          "canonical": false,
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          ],
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          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "GRK4",
          "gene_hgnc_id": 4543,
          "hgvs_c": "c.1800+347T>A",
          "hgvs_p": null,
          "transcript": "XM_011513447.3",
          "protein_id": "XP_011511749.1",
          "transcript_support_level": null,
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          "aa_length": 617,
          "cds_start": -4,
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          "cds_length": 1854,
          "cdna_start": null,
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          "cdna_length": 2489,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "GRK4",
          "gene_hgnc_id": 4543,
          "hgvs_c": "c.1722+347T>A",
          "hgvs_p": null,
          "transcript": "XM_017008052.2",
          "protein_id": "XP_016863541.1",
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          "aa_length": 591,
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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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          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "GRK4",
          "gene_hgnc_id": 4543,
          "hgvs_c": "c.1710+347T>A",
          "hgvs_p": null,
          "transcript": "XM_017008053.2",
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        {
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          "canonical": false,
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          ],
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          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "GRK4",
          "gene_hgnc_id": 4543,
          "hgvs_c": "c.1704+347T>A",
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          "transcript": "XM_011513449.3",
          "protein_id": "XP_011511751.1",
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        },
        {
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          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "GRK4",
          "gene_hgnc_id": 4543,
          "hgvs_c": "c.1662+1349T>A",
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          "transcript": "XM_011513450.3",
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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,
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          "exon_count": 16,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "GRK4",
          "gene_hgnc_id": 4543,
          "hgvs_c": "c.1662+347T>A",
          "hgvs_p": null,
          "transcript": "XM_011513451.3",
          "protein_id": "XP_011511753.1",
          "transcript_support_level": null,
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          "cdna_start": null,
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      "acmg_by_gene": [
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          "verdict": "Likely_benign",
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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
}