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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: 15-40414968-CG-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=40414968&ref=CG&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 40414968,
      "ref": "CG",
      "alt": "C",
      "effect": "frameshift_variant",
      "transcript": "NM_001354601.3",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IVD",
          "gene_hgnc_id": 6186,
          "hgvs_c": "c.870delG",
          "hgvs_p": "p.Pro291fs",
          "transcript": "NM_002225.5",
          "protein_id": "NP_002216.3",
          "transcript_support_level": null,
          "aa_start": 290,
          "aa_end": null,
          "aa_length": 423,
          "cds_start": 870,
          "cds_end": null,
          "cds_length": 1272,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000487418.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_002225.5"
        },
        {
          "aa_ref": "G",
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IVD",
          "gene_hgnc_id": 6186,
          "hgvs_c": "c.870delG",
          "hgvs_p": "p.Pro291fs",
          "transcript": "ENST00000487418.8",
          "protein_id": "ENSP00000418397.3",
          "transcript_support_level": 1,
          "aa_start": 290,
          "aa_end": null,
          "aa_length": 423,
          "cds_start": 870,
          "cds_end": null,
          "cds_length": 1272,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_002225.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000487418.8"
        },
        {
          "aa_ref": "G",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IVD",
          "gene_hgnc_id": 6186,
          "hgvs_c": "c.780delG",
          "hgvs_p": "p.Pro261fs",
          "transcript": "ENST00000479013.7",
          "protein_id": "ENSP00000417990.3",
          "transcript_support_level": 1,
          "aa_start": 260,
          "aa_end": null,
          "aa_length": 393,
          "cds_start": 780,
          "cds_end": null,
          "cds_length": 1182,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000479013.7"
        },
        {
          "aa_ref": "G",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IVD",
          "gene_hgnc_id": 6186,
          "hgvs_c": "c.870delG",
          "hgvs_p": "p.Pro291fs",
          "transcript": "NM_001354601.3",
          "protein_id": "NP_001341530.2",
          "transcript_support_level": null,
          "aa_start": 290,
          "aa_end": null,
          "aa_length": 484,
          "cds_start": 870,
          "cds_end": null,
          "cds_length": 1455,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001354601.3"
        },
        {
          "aa_ref": "G",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IVD",
          "gene_hgnc_id": 6186,
          "hgvs_c": "c.1023delG",
          "hgvs_p": "p.Pro342fs",
          "transcript": "ENST00000868500.1",
          "protein_id": "ENSP00000538559.1",
          "transcript_support_level": null,
          "aa_start": 341,
          "aa_end": null,
          "aa_length": 474,
          "cds_start": 1023,
          "cds_end": null,
          "cds_length": 1425,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868500.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IVD",
          "gene_hgnc_id": 6186,
          "hgvs_c": "c.957delG",
          "hgvs_p": "p.Pro320fs",
          "transcript": "NM_001354600.3",
          "protein_id": "NP_001341529.2",
          "transcript_support_level": null,
          "aa_start": 319,
          "aa_end": null,
          "aa_length": 473,
          "cds_start": 957,
          "cds_end": null,
          "cds_length": 1422,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001354600.3"
        },
        {
          "aa_ref": "G",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IVD",
          "gene_hgnc_id": 6186,
          "hgvs_c": "c.957delG",
          "hgvs_p": "p.Pro320fs",
          "transcript": "NM_001354599.3",
          "protein_id": "NP_001341528.2",
          "transcript_support_level": null,
          "aa_start": 319,
          "aa_end": null,
          "aa_length": 452,
          "cds_start": 957,
          "cds_end": null,
          "cds_length": 1359,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001354599.3"
        },
        {
          "aa_ref": "G",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IVD",
          "gene_hgnc_id": 6186,
          "hgvs_c": "c.870delG",
          "hgvs_p": "p.Pro291fs",
          "transcript": "NM_001354598.3",
          "protein_id": "NP_001341527.2",
          "transcript_support_level": null,
          "aa_start": 290,
          "aa_end": null,
          "aa_length": 444,
          "cds_start": 870,
          "cds_end": null,
          "cds_length": 1335,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001354598.3"
        },
        {
          "aa_ref": "G",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IVD",
          "gene_hgnc_id": 6186,
          "hgvs_c": "c.894delG",
          "hgvs_p": "p.Pro299fs",
          "transcript": "ENST00000868497.1",
          "protein_id": "ENSP00000538556.1",
          "transcript_support_level": null,
          "aa_start": 298,
          "aa_end": null,
          "aa_length": 431,
          "cds_start": 894,
          "cds_end": null,
          "cds_length": 1296,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868497.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IVD",
          "gene_hgnc_id": 6186,
          "hgvs_c": "c.888delG",
          "hgvs_p": "p.Pro297fs",
          "transcript": "ENST00000966717.1",
          "protein_id": "ENSP00000636776.1",
          "transcript_support_level": null,
          "aa_start": 296,
          "aa_end": null,
          "aa_length": 429,
          "cds_start": 888,
          "cds_end": null,
          "cds_length": 1290,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000966717.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IVD",
          "gene_hgnc_id": 6186,
          "hgvs_c": "c.885delG",
          "hgvs_p": "p.Pro296fs",
          "transcript": "ENST00000868496.1",
          "protein_id": "ENSP00000538555.1",
          "transcript_support_level": null,
          "aa_start": 295,
          "aa_end": null,
          "aa_length": 428,
          "cds_start": 885,
          "cds_end": null,
          "cds_length": 1287,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868496.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IVD",
          "gene_hgnc_id": 6186,
          "hgvs_c": "c.879delG",
          "hgvs_p": "p.Pro294fs",
          "transcript": "ENST00000651168.1",
          "protein_id": "ENSP00000499074.1",
          "transcript_support_level": null,
          "aa_start": 293,
          "aa_end": null,
          "aa_length": 426,
          "cds_start": 879,
          "cds_end": null,
          "cds_length": 1281,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000651168.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IVD",
          "gene_hgnc_id": 6186,
          "hgvs_c": "c.861delG",
          "hgvs_p": "p.Pro288fs",
          "transcript": "ENST00000868499.1",
          "protein_id": "ENSP00000538558.1",
          "transcript_support_level": null,
          "aa_start": 287,
          "aa_end": null,
          "aa_length": 420,
          "cds_start": 861,
          "cds_end": null,
          "cds_length": 1263,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868499.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IVD",
          "gene_hgnc_id": 6186,
          "hgvs_c": "c.822delG",
          "hgvs_p": "p.Pro275fs",
          "transcript": "NM_001354597.3",
          "protein_id": "NP_001341526.1",
          "transcript_support_level": null,
          "aa_start": 274,
          "aa_end": null,
          "aa_length": 407,
          "cds_start": 822,
          "cds_end": null,
          "cds_length": 1224,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001354597.3"
        },
        {
          "aa_ref": "G",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IVD",
          "gene_hgnc_id": 6186,
          "hgvs_c": "c.789delG",
          "hgvs_p": "p.Pro264fs",
          "transcript": "ENST00000650656.1",
          "protein_id": "ENSP00000498731.1",
          "transcript_support_level": null,
          "aa_start": 263,
          "aa_end": null,
          "aa_length": 396,
          "cds_start": 789,
          "cds_end": null,
          "cds_length": 1191,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000650656.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IVD",
          "gene_hgnc_id": 6186,
          "hgvs_c": "c.786delG",
          "hgvs_p": "p.Pro263fs",
          "transcript": "ENST00000868498.1",
          "protein_id": "ENSP00000538557.1",
          "transcript_support_level": null,
          "aa_start": 262,
          "aa_end": null,
          "aa_length": 395,
          "cds_start": 786,
          "cds_end": null,
          "cds_length": 1188,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868498.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IVD",
          "gene_hgnc_id": 6186,
          "hgvs_c": "c.786delG",
          "hgvs_p": "p.Pro263fs",
          "transcript": "ENST00000966716.1",
          "protein_id": "ENSP00000636775.1",
          "transcript_support_level": null,
          "aa_start": 262,
          "aa_end": null,
          "aa_length": 395,
          "cds_start": 786,
          "cds_end": null,
          "cds_length": 1188,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000966716.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IVD",
          "gene_hgnc_id": 6186,
          "hgvs_c": "c.780delG",
          "hgvs_p": "p.Pro261fs",
          "transcript": "NM_001159508.3",
          "protein_id": "NP_001152980.2",
          "transcript_support_level": null,
          "aa_start": 260,
          "aa_end": null,
          "aa_length": 393,
          "cds_start": 780,
          "cds_end": null,
          "cds_length": 1182,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001159508.3"
        },
        {
          "aa_ref": "G",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IVD",
          "gene_hgnc_id": 6186,
          "hgvs_c": "c.627delG",
          "hgvs_p": "p.Pro210fs",
          "transcript": "ENST00000473112.6",
          "protein_id": "ENSP00000417256.2",
          "transcript_support_level": 5,
          "aa_start": 209,
          "aa_end": null,
          "aa_length": 305,
          "cds_start": 627,
          "cds_end": null,
          "cds_length": 918,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000473112.6"
        },
        {
          "aa_ref": "G",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IVD",
          "gene_hgnc_id": 6186,
          "hgvs_c": "c.267delG",
          "hgvs_p": "p.Pro90fs",
          "transcript": "ENST00000491554.6",
          "protein_id": "ENSP00000453146.1",
          "transcript_support_level": 3,
          "aa_start": 89,
          "aa_end": null,
          "aa_length": 243,
          "cds_start": 267,
          "cds_end": null,
          "cds_length": 732,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000491554.6"
        },
        {
          "aa_ref": "G",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
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      "acmg_score": 12,
      "acmg_classification": "Pathogenic",
      "acmg_criteria": "PVS1,PM2,PP5_Moderate",
      "acmg_by_gene": [
        {
          "score": 12,
          "benign_score": 0,
          "pathogenic_score": 12,
          "criteria": [
            "PVS1",
            "PM2",
            "PP5_Moderate"
          ],
          "verdict": "Pathogenic",
          "transcript": "NM_001354601.3",
          "gene_symbol": "IVD",
          "hgnc_id": 6186,
          "effects": [
            "frameshift_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.870delG",
          "hgvs_p": "p.Pro291fs"
        }
      ],
      "clinvar_disease": "Isovaleryl-CoA dehydrogenase deficiency",
      "clinvar_classification": "Pathogenic",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "P:1",
      "phenotype_combined": "Isovaleryl-CoA dehydrogenase deficiency",
      "pathogenicity_classification_combined": "Pathogenic",
      "custom_annotations": null
    }
  ],
  "message": null
}