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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: 10-76877899-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=76877899&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 76877899,
      "ref": "G",
      "alt": "A",
      "effect": "splice_region_variant,intron_variant",
      "transcript": "NM_001322830.2",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "c.3363-6C>T",
          "hgvs_p": null,
          "transcript": "ENST00000640807.1",
          "protein_id": "ENSP00000491555.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1128,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3387,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3387,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": 27,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "c.3108-6C>T",
          "hgvs_p": null,
          "transcript": "ENST00000604624.6",
          "protein_id": "ENSP00000473714.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1043,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3132,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 11400,
          "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": 25,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "n.*2392-9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000639691.1",
          "protein_id": "ENSP00000491040.1",
          "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": 3145,
          "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": 30,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "n.3737-9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000639851.1",
          "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": 3866,
          "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": 30,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "c.3716-9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000404771.8",
          "protein_id": "ENSP00000385717.3",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1288,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3867,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4014,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": 30,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "c.3587-6C>T",
          "hgvs_p": null,
          "transcript": "ENST00000639591.1",
          "protein_id": "ENSP00000492793.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1246,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3741,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3888,
          "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": 31,
          "intron_rank": 30,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "c.3708-9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000640523.1",
          "protein_id": "ENSP00000491795.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1242,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3729,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5425,
          "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": 30,
          "intron_rank": 29,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "c.3699-9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000638848.1",
          "protein_id": "ENSP00000492414.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1239,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3720,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4423,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": 30,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "c.3563-6C>T",
          "hgvs_p": null,
          "transcript": "ENST00000640605.1",
          "protein_id": "ENSP00000491435.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1238,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3717,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3864,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": 28,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "c.3687-6C>T",
          "hgvs_p": null,
          "transcript": "ENST00000639544.1",
          "protein_id": "ENSP00000492075.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1236,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3711,
          "cdna_start": null,
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          "cdna_length": 3711,
          "mane_select": null,
          "mane_plus": null,
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          "feature": null
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "intron_rank": 28,
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          "gene_symbol": "KCNMA1",
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          "hgvs_c": "c.3687-9C>T",
          "hgvs_p": null,
          "transcript": "ENST00000457953.6",
          "protein_id": "ENSP00000396608.2",
          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": 1235,
          "cds_start": -4,
          "cds_end": null,
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          "cdna_start": null,
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          "cdna_length": 3976,
          "mane_select": null,
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          "biotype": null,
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        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
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          "gene_symbol": "KCNMA1",
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          "cdna_start": null,
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          "transcript": "ENST00000640182.1",
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          "gene_symbol": "KCNMA1",
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          "hgvs_c": "c.3551-9C>T",
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          "transcript": "ENST00000372440.6",
          "protein_id": "ENSP00000361517.2",
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          "cds_start": -4,
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        {
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          "intron_rank": 31,
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          "gene_symbol": "KCNMA1",
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          "hgvs_c": "c.3548-9C>T",
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          "transcript": "ENST00000372437.6",
          "protein_id": "ENSP00000361514.2",
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        {
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          "canonical": false,
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          "intron_rank": 28,
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          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
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          "transcript": "ENST00000638203.1",
          "protein_id": "ENSP00000491123.1",
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        {
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          "canonical": false,
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          "gene_symbol": "KCNMA1",
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        {
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          "canonical": false,
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          "consequences": [
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            "intron_variant"
          ],
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          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "c.3615-6C>T",
          "hgvs_p": null,
          "transcript": "NM_001322830.2",
          "protein_id": "NP_001309759.1",
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          "cds_start": -4,
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          "cds_length": 3639,
          "cdna_start": null,
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          "cdna_length": 12072,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": 30,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "c.3615-6C>T",
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            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001322830.2",
          "gene_symbol": "KCNMA1",
          "hgnc_id": 6284,
          "effects": [
            "splice_region_variant",
            "intron_variant"
          ],
          "inheritance_mode": "AR,AD",
          "hgvs_c": "c.3615-6C>T",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}