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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: 17-5361291-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=5361291&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 5361291,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_004703.6",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RABEP1",
          "gene_hgnc_id": 17677,
          "hgvs_c": "c.1179G>A",
          "hgvs_p": "p.Ser393Ser",
          "transcript": "NM_004703.6",
          "protein_id": "NP_004694.2",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 862,
          "cds_start": 1179,
          "cds_end": null,
          "cds_length": 2589,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000537505.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_004703.6"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RABEP1",
          "gene_hgnc_id": 17677,
          "hgvs_c": "c.1179G>A",
          "hgvs_p": "p.Ser393Ser",
          "transcript": "ENST00000537505.6",
          "protein_id": "ENSP00000445408.2",
          "transcript_support_level": 1,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 862,
          "cds_start": 1179,
          "cds_end": null,
          "cds_length": 2589,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_004703.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000537505.6"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RABEP1",
          "gene_hgnc_id": 17677,
          "hgvs_c": "c.1179G>A",
          "hgvs_p": "p.Ser393Ser",
          "transcript": "ENST00000341923.10",
          "protein_id": "ENSP00000339569.6",
          "transcript_support_level": 1,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 829,
          "cds_start": 1179,
          "cds_end": null,
          "cds_length": 2490,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000341923.10"
        },
        {
          "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": "NUP88",
          "gene_hgnc_id": 8067,
          "hgvs_c": "n.867C>T",
          "hgvs_p": null,
          "transcript": "ENST00000573169.1",
          "protein_id": null,
          "transcript_support_level": 1,
          "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": "ENST00000573169.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RABEP1",
          "gene_hgnc_id": 17677,
          "hgvs_c": "n.1215G>A",
          "hgvs_p": null,
          "transcript": "ENST00000575475.2",
          "protein_id": null,
          "transcript_support_level": 1,
          "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": "retained_intron",
          "feature": "ENST00000575475.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RABEP1",
          "gene_hgnc_id": 17677,
          "hgvs_c": "c.1227G>A",
          "hgvs_p": "p.Ser409Ser",
          "transcript": "ENST00000876352.1",
          "protein_id": "ENSP00000546411.1",
          "transcript_support_level": null,
          "aa_start": 409,
          "aa_end": null,
          "aa_length": 878,
          "cds_start": 1227,
          "cds_end": null,
          "cds_length": 2637,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876352.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RABEP1",
          "gene_hgnc_id": 17677,
          "hgvs_c": "c.1176G>A",
          "hgvs_p": "p.Ser392Ser",
          "transcript": "ENST00000947556.1",
          "protein_id": "ENSP00000617615.1",
          "transcript_support_level": null,
          "aa_start": 392,
          "aa_end": null,
          "aa_length": 861,
          "cds_start": 1176,
          "cds_end": null,
          "cds_length": 2586,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000947556.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RABEP1",
          "gene_hgnc_id": 17677,
          "hgvs_c": "c.1179G>A",
          "hgvs_p": "p.Ser393Ser",
          "transcript": "ENST00000876345.1",
          "protein_id": "ENSP00000546404.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 860,
          "cds_start": 1179,
          "cds_end": null,
          "cds_length": 2583,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876345.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RABEP1",
          "gene_hgnc_id": 17677,
          "hgvs_c": "c.1173G>A",
          "hgvs_p": "p.Ser391Ser",
          "transcript": "ENST00000947557.1",
          "protein_id": "ENSP00000617616.1",
          "transcript_support_level": null,
          "aa_start": 391,
          "aa_end": null,
          "aa_length": 860,
          "cds_start": 1173,
          "cds_end": null,
          "cds_length": 2583,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000947557.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RABEP1",
          "gene_hgnc_id": 17677,
          "hgvs_c": "c.1158G>A",
          "hgvs_p": "p.Ser386Ser",
          "transcript": "ENST00000876346.1",
          "protein_id": "ENSP00000546405.1",
          "transcript_support_level": null,
          "aa_start": 386,
          "aa_end": null,
          "aa_length": 855,
          "cds_start": 1158,
          "cds_end": null,
          "cds_length": 2568,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876346.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RABEP1",
          "gene_hgnc_id": 17677,
          "hgvs_c": "c.1158G>A",
          "hgvs_p": "p.Ser386Ser",
          "transcript": "ENST00000947561.1",
          "protein_id": "ENSP00000617620.1",
          "transcript_support_level": null,
          "aa_start": 386,
          "aa_end": null,
          "aa_length": 853,
          "cds_start": 1158,
          "cds_end": null,
          "cds_length": 2562,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000947561.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RABEP1",
          "gene_hgnc_id": 17677,
          "hgvs_c": "c.1179G>A",
          "hgvs_p": "p.Ser393Ser",
          "transcript": "NM_001083585.3",
          "protein_id": "NP_001077054.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 829,
          "cds_start": 1179,
          "cds_end": null,
          "cds_length": 2490,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001083585.3"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RABEP1",
          "gene_hgnc_id": 17677,
          "hgvs_c": "c.1080G>A",
          "hgvs_p": "p.Ser360Ser",
          "transcript": "ENST00000947560.1",
          "protein_id": "ENSP00000617619.1",
          "transcript_support_level": null,
          "aa_start": 360,
          "aa_end": null,
          "aa_length": 829,
          "cds_start": 1080,
          "cds_end": null,
          "cds_length": 2490,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000947560.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RABEP1",
          "gene_hgnc_id": 17677,
          "hgvs_c": "c.1179G>A",
          "hgvs_p": "p.Ser393Ser",
          "transcript": "ENST00000876349.1",
          "protein_id": "ENSP00000546408.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 823,
          "cds_start": 1179,
          "cds_end": null,
          "cds_length": 2472,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876349.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RABEP1",
          "gene_hgnc_id": 17677,
          "hgvs_c": "c.1179G>A",
          "hgvs_p": "p.Ser393Ser",
          "transcript": "ENST00000911616.1",
          "protein_id": "ENSP00000581675.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 823,
          "cds_start": 1179,
          "cds_end": null,
          "cds_length": 2472,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000911616.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RABEP1",
          "gene_hgnc_id": 17677,
          "hgvs_c": "c.1059G>A",
          "hgvs_p": "p.Ser353Ser",
          "transcript": "ENST00000876343.1",
          "protein_id": "ENSP00000546402.1",
          "transcript_support_level": null,
          "aa_start": 353,
          "aa_end": null,
          "aa_length": 822,
          "cds_start": 1059,
          "cds_end": null,
          "cds_length": 2469,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876343.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RABEP1",
          "gene_hgnc_id": 17677,
          "hgvs_c": "c.1158G>A",
          "hgvs_p": "p.Ser386Ser",
          "transcript": "ENST00000947558.1",
          "protein_id": "ENSP00000617617.1",
          "transcript_support_level": null,
          "aa_start": 386,
          "aa_end": null,
          "aa_length": 822,
          "cds_start": 1158,
          "cds_end": null,
          "cds_length": 2469,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000947558.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RABEP1",
          "gene_hgnc_id": 17677,
          "hgvs_c": "c.1059G>A",
          "hgvs_p": "p.Ser353Ser",
          "transcript": "ENST00000947555.1",
          "protein_id": "ENSP00000617614.1",
          "transcript_support_level": null,
          "aa_start": 353,
          "aa_end": null,
          "aa_length": 820,
          "cds_start": 1059,
          "cds_end": null,
          "cds_length": 2463,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000947555.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RABEP1",
          "gene_hgnc_id": 17677,
          "hgvs_c": "c.1050G>A",
          "hgvs_p": "p.Ser350Ser",
          "transcript": "NM_001291581.2",
          "protein_id": "NP_001278510.1",
          "transcript_support_level": null,
          "aa_start": 350,
          "aa_end": null,
          "aa_length": 819,
          "cds_start": 1050,
          "cds_end": null,
          "cds_length": 2460,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001291581.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RABEP1",
          "gene_hgnc_id": 17677,
          "hgvs_c": "c.1050G>A",
          "hgvs_p": "p.Ser350Ser",
          "transcript": "ENST00000876344.1",
          "protein_id": "ENSP00000546403.1",
          "transcript_support_level": null,
          "aa_start": 350,
          "aa_end": null,
          "aa_length": 819,
          "cds_start": 1050,
          "cds_end": null,
          "cds_length": 2460,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "verdict": "Likely_benign",
          "transcript": "XR_934178.3",
          "gene_symbol": "LOC105371505",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.1229-207C>T",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "not provided",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "not provided",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}