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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: 15-41710993-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=41710993&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 41710993,
      "ref": "C",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_001400225.1",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGA",
          "gene_hgnc_id": 14010,
          "hgvs_c": "c.2728C>A",
          "hgvs_p": "p.Arg910Arg",
          "transcript": "NM_001400225.1",
          "protein_id": "NP_001387154.1",
          "transcript_support_level": null,
          "aa_start": 910,
          "aa_end": null,
          "aa_length": 3114,
          "cds_start": 2728,
          "cds_end": null,
          "cds_length": 9345,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000703841.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001400225.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGA",
          "gene_hgnc_id": 14010,
          "hgvs_c": "c.2728C>A",
          "hgvs_p": "p.Arg910Arg",
          "transcript": "ENST00000703841.1",
          "protein_id": "ENSP00000515495.1",
          "transcript_support_level": null,
          "aa_start": 910,
          "aa_end": null,
          "aa_length": 3114,
          "cds_start": 2728,
          "cds_end": null,
          "cds_length": 9345,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001400225.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000703841.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGA",
          "gene_hgnc_id": 14010,
          "hgvs_c": "c.2728C>A",
          "hgvs_p": "p.Arg910Arg",
          "transcript": "ENST00000566586.6",
          "protein_id": "ENSP00000456141.1",
          "transcript_support_level": 1,
          "aa_start": 910,
          "aa_end": null,
          "aa_length": 2856,
          "cds_start": 2728,
          "cds_end": null,
          "cds_length": 8571,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000566586.6"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGA",
          "gene_hgnc_id": 14010,
          "hgvs_c": "c.2728C>A",
          "hgvs_p": "p.Arg910Arg",
          "transcript": "ENST00000916432.1",
          "protein_id": "ENSP00000586491.1",
          "transcript_support_level": null,
          "aa_start": 910,
          "aa_end": null,
          "aa_length": 3114,
          "cds_start": 2728,
          "cds_end": null,
          "cds_length": 9345,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000916432.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGA",
          "gene_hgnc_id": 14010,
          "hgvs_c": "c.2728C>A",
          "hgvs_p": "p.Arg910Arg",
          "transcript": "NM_001164273.2",
          "protein_id": "NP_001157745.1",
          "transcript_support_level": null,
          "aa_start": 910,
          "aa_end": null,
          "aa_length": 3065,
          "cds_start": 2728,
          "cds_end": null,
          "cds_length": 9198,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001164273.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGA",
          "gene_hgnc_id": 14010,
          "hgvs_c": "c.2728C>A",
          "hgvs_p": "p.Arg910Arg",
          "transcript": "ENST00000219905.13",
          "protein_id": "ENSP00000219905.7",
          "transcript_support_level": 5,
          "aa_start": 910,
          "aa_end": null,
          "aa_length": 3065,
          "cds_start": 2728,
          "cds_end": null,
          "cds_length": 9198,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000219905.13"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGA",
          "gene_hgnc_id": 14010,
          "hgvs_c": "c.2728C>A",
          "hgvs_p": "p.Arg910Arg",
          "transcript": "ENST00000916430.1",
          "protein_id": "ENSP00000586489.1",
          "transcript_support_level": null,
          "aa_start": 910,
          "aa_end": null,
          "aa_length": 2955,
          "cds_start": 2728,
          "cds_end": null,
          "cds_length": 8868,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000916430.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGA",
          "gene_hgnc_id": 14010,
          "hgvs_c": "c.2728C>A",
          "hgvs_p": "p.Arg910Arg",
          "transcript": "ENST00000916431.1",
          "protein_id": "ENSP00000586490.1",
          "transcript_support_level": null,
          "aa_start": 910,
          "aa_end": null,
          "aa_length": 2905,
          "cds_start": 2728,
          "cds_end": null,
          "cds_length": 8718,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000916431.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGA",
          "gene_hgnc_id": 14010,
          "hgvs_c": "c.2728C>A",
          "hgvs_p": "p.Arg910Arg",
          "transcript": "NM_001080541.3",
          "protein_id": "NP_001074010.2",
          "transcript_support_level": null,
          "aa_start": 910,
          "aa_end": null,
          "aa_length": 2856,
          "cds_start": 2728,
          "cds_end": null,
          "cds_length": 8571,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001080541.3"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGA",
          "gene_hgnc_id": 14010,
          "hgvs_c": "c.2728C>A",
          "hgvs_p": "p.Arg910Arg",
          "transcript": "ENST00000916428.1",
          "protein_id": "ENSP00000586487.1",
          "transcript_support_level": null,
          "aa_start": 910,
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          "cds_start": 2728,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
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          "gene_symbol": "MGA",
          "gene_hgnc_id": 14010,
          "hgvs_c": "c.2728C>A",
          "hgvs_p": "p.Arg910Arg",
          "transcript": "ENST00000916429.1",
          "protein_id": "ENSP00000586488.1",
          "transcript_support_level": null,
          "aa_start": 910,
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          "aa_length": 2795,
          "cds_start": 2728,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        {
          "aa_ref": "R",
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 8,
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          "intron_rank": null,
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          "gene_symbol": "MGA",
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          "hgvs_c": "c.2728C>A",
          "hgvs_p": "p.Arg910Arg",
          "transcript": "ENST00000570161.6",
          "protein_id": "ENSP00000457035.2",
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          "aa_start": 910,
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          "cds_start": 2728,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        {
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 8,
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          "gene_symbol": "MGA",
          "gene_hgnc_id": 14010,
          "hgvs_c": "c.2728C>A",
          "hgvs_p": "p.Arg910Arg",
          "transcript": "NM_001400242.1",
          "protein_id": "NP_001387171.1",
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 9,
          "intron_rank": null,
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          "gene_symbol": "MGA",
          "gene_hgnc_id": 14010,
          "hgvs_c": "c.2728C>A",
          "hgvs_p": "p.Arg910Arg",
          "transcript": "ENST00000566718.6",
          "protein_id": "ENSP00000455155.2",
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        {
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          "gene_symbol": "MGA",
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          "hgvs_p": "p.Arg206Arg",
          "transcript": "ENST00000703842.1",
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          "aa_end": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000703842.1"
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
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          "gene_symbol": "MGA",
          "gene_hgnc_id": 14010,
          "hgvs_c": "c.2728C>A",
          "hgvs_p": "p.Arg910Arg",
          "transcript": "XM_005254243.4",
          "protein_id": "XP_005254300.1",
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        {
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          "gene_symbol": "MGA",
          "gene_hgnc_id": 14010,
          "hgvs_c": "c.2728C>A",
          "hgvs_p": "p.Arg910Arg",
          "transcript": "XM_005254246.4",
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          "gene_symbol": "MGA",
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        {
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          ],
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          "exon_count": 24,
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          "gene_symbol": "MGA",
          "gene_hgnc_id": 14010,
          "hgvs_c": "c.2728C>A",
          "hgvs_p": "p.Arg910Arg",
          "transcript": "XM_047432278.1",
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      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": null,
      "splice_prediction_selected": null,
      "splice_source_selected": null,
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.25,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.968,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": null,
      "spliceai_max_prediction": null,
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -1,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Moderate,BP7",
      "acmg_by_gene": [
        {
          "score": -1,
          "benign_score": 3,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001400225.1",
          "gene_symbol": "MGA",
          "hgnc_id": 14010,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.2728C>A",
          "hgvs_p": "p.Arg910Arg"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}