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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: 20-45416168-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=45416168&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "20",
      "pos": 45416168,
      "ref": "T",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_015937.6",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGT",
          "gene_hgnc_id": 14938,
          "hgvs_c": "c.12T>A",
          "hgvs_p": "p.Ala4Ala",
          "transcript": "NM_015937.6",
          "protein_id": "NP_057021.2",
          "transcript_support_level": null,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 578,
          "cds_start": 12,
          "cds_end": null,
          "cds_length": 1737,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000279036.12",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_015937.6"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGT",
          "gene_hgnc_id": 14938,
          "hgvs_c": "c.12T>A",
          "hgvs_p": "p.Ala4Ala",
          "transcript": "ENST00000279036.12",
          "protein_id": "ENSP00000279036.6",
          "transcript_support_level": 1,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 578,
          "cds_start": 12,
          "cds_end": null,
          "cds_length": 1737,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_015937.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000279036.12"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGT",
          "gene_hgnc_id": 14938,
          "hgvs_c": "c.12T>A",
          "hgvs_p": "p.Ala4Ala",
          "transcript": "ENST00000372689.9",
          "protein_id": "ENSP00000361774.4",
          "transcript_support_level": 1,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 511,
          "cds_start": 12,
          "cds_end": null,
          "cds_length": 1536,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000372689.9"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGT",
          "gene_hgnc_id": 14938,
          "hgvs_c": "c.12T>A",
          "hgvs_p": "p.Ala4Ala",
          "transcript": "ENST00000639382.1",
          "protein_id": "ENSP00000491534.1",
          "transcript_support_level": 1,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 392,
          "cds_start": 12,
          "cds_end": null,
          "cds_length": 1180,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000639382.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGT",
          "gene_hgnc_id": 14938,
          "hgvs_c": "c.12T>A",
          "hgvs_p": "p.Ala4Ala",
          "transcript": "ENST00000638353.1",
          "protein_id": "ENSP00000491538.1",
          "transcript_support_level": 1,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 317,
          "cds_start": 12,
          "cds_end": null,
          "cds_length": 955,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000638353.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGT",
          "gene_hgnc_id": 14938,
          "hgvs_c": "c.12T>A",
          "hgvs_p": "p.Ala4Ala",
          "transcript": "ENST00000639235.1",
          "protein_id": "ENSP00000492498.1",
          "transcript_support_level": 1,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 315,
          "cds_start": 12,
          "cds_end": null,
          "cds_length": 949,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000639235.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGT",
          "gene_hgnc_id": 14938,
          "hgvs_c": "c.12T>A",
          "hgvs_p": "p.Ala4Ala",
          "transcript": "ENST00000638489.1",
          "protein_id": "ENSP00000491566.1",
          "transcript_support_level": 1,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 313,
          "cds_start": 12,
          "cds_end": null,
          "cds_length": 942,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000638489.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGT",
          "gene_hgnc_id": 14938,
          "hgvs_c": "c.12T>A",
          "hgvs_p": "p.Ala4Ala",
          "transcript": "ENST00000639292.2",
          "protein_id": "ENSP00000491678.2",
          "transcript_support_level": 5,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 605,
          "cds_start": 12,
          "cds_end": null,
          "cds_length": 1818,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000639292.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGT",
          "gene_hgnc_id": 14938,
          "hgvs_c": "c.12T>A",
          "hgvs_p": "p.Ala4Ala",
          "transcript": "ENST00000854445.1",
          "protein_id": "ENSP00000524504.1",
          "transcript_support_level": null,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 575,
          "cds_start": 12,
          "cds_end": null,
          "cds_length": 1728,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854445.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGT",
          "gene_hgnc_id": 14938,
          "hgvs_c": "c.12T>A",
          "hgvs_p": "p.Ala4Ala",
          "transcript": "ENST00000956767.1",
          "protein_id": "ENSP00000626826.1",
          "transcript_support_level": null,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 572,
          "cds_start": 12,
          "cds_end": null,
          "cds_length": 1719,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000956767.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGT",
          "gene_hgnc_id": 14938,
          "hgvs_c": "c.12T>A",
          "hgvs_p": "p.Ala4Ala",
          "transcript": "ENST00000854442.1",
          "protein_id": "ENSP00000524501.1",
          "transcript_support_level": null,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 569,
          "cds_start": 12,
          "cds_end": null,
          "cds_length": 1710,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854442.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGT",
          "gene_hgnc_id": 14938,
          "hgvs_c": "c.12T>A",
          "hgvs_p": "p.Ala4Ala",
          "transcript": "ENST00000956771.1",
          "protein_id": "ENSP00000626830.1",
          "transcript_support_level": null,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 562,
          "cds_start": 12,
          "cds_end": null,
          "cds_length": 1689,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000956771.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGT",
          "gene_hgnc_id": 14938,
          "hgvs_c": "c.12T>A",
          "hgvs_p": "p.Ala4Ala",
          "transcript": "ENST00000638691.2",
          "protein_id": "ENSP00000492094.2",
          "transcript_support_level": 3,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 550,
          "cds_start": 12,
          "cds_end": null,
          "cds_length": 1653,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000638691.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGT",
          "gene_hgnc_id": 14938,
          "hgvs_c": "c.12T>A",
          "hgvs_p": "p.Ala4Ala",
          "transcript": "ENST00000956773.1",
          "protein_id": "ENSP00000626832.1",
          "transcript_support_level": null,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 550,
          "cds_start": 12,
          "cds_end": null,
          "cds_length": 1653,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000956773.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
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          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGT",
          "gene_hgnc_id": 14938,
          "hgvs_c": "c.12T>A",
          "hgvs_p": "p.Ala4Ala",
          "transcript": "ENST00000956775.1",
          "protein_id": "ENSP00000626834.1",
          "transcript_support_level": null,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 538,
          "cds_start": 12,
          "cds_end": null,
          "cds_length": 1617,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000956775.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGT",
          "gene_hgnc_id": 14938,
          "hgvs_c": "c.12T>A",
          "hgvs_p": "p.Ala4Ala",
          "transcript": "ENST00000911912.1",
          "protein_id": "ENSP00000581971.1",
          "transcript_support_level": null,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 529,
          "cds_start": 12,
          "cds_end": null,
          "cds_length": 1590,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000911912.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGT",
          "gene_hgnc_id": 14938,
          "hgvs_c": "c.12T>A",
          "hgvs_p": "p.Ala4Ala",
          "transcript": "NM_001184728.3",
          "protein_id": "NP_001171657.1",
          "transcript_support_level": null,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 522,
          "cds_start": 12,
          "cds_end": null,
          "cds_length": 1569,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001184728.3"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGT",
          "gene_hgnc_id": 14938,
          "hgvs_c": "c.12T>A",
          "hgvs_p": "p.Ala4Ala",
          "transcript": "ENST00000543458.7",
          "protein_id": "ENSP00000441577.1",
          "transcript_support_level": 2,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 522,
          "cds_start": 12,
          "cds_end": null,
          "cds_length": 1569,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000543458.7"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGT",
          "gene_hgnc_id": 14938,
          "hgvs_c": "c.12T>A",
          "hgvs_p": "p.Ala4Ala",
          "transcript": "ENST00000956774.1",
          "protein_id": "ENSP00000626833.1",
          "transcript_support_level": null,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 516,
          "cds_start": 12,
          "cds_end": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000956774.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGT",
          "gene_hgnc_id": 14938,
          "hgvs_c": "c.12T>A",
          "hgvs_p": "p.Ala4Ala",
          "transcript": "NM_001184729.3",
          "protein_id": "NP_001171658.1",
          "transcript_support_level": null,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 511,
          "cds_start": 12,
          "cds_end": null,
          "cds_length": 1536,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001184729.3"
        },
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          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "XR_001754640.2",
          "gene_symbol": "LOC107985405",
          "hgnc_id": null,
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.820A>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
}