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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: 16-16090525-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=16090525&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 16090525,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_004996.4",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2581G>A",
          "hgvs_p": "p.Ala861Thr",
          "transcript": "NM_004996.4",
          "protein_id": "NP_004987.2",
          "transcript_support_level": null,
          "aa_start": 861,
          "aa_end": null,
          "aa_length": 1531,
          "cds_start": 2581,
          "cds_end": null,
          "cds_length": 4596,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000399410.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_004996.4"
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2581G>A",
          "hgvs_p": "p.Ala861Thr",
          "transcript": "ENST00000399410.8",
          "protein_id": "ENSP00000382342.3",
          "transcript_support_level": 1,
          "aa_start": 861,
          "aa_end": null,
          "aa_length": 1531,
          "cds_start": 2581,
          "cds_end": null,
          "cds_length": 4596,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_004996.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000399410.8"
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2404G>A",
          "hgvs_p": "p.Ala802Thr",
          "transcript": "ENST00000572882.3",
          "protein_id": "ENSP00000461615.2",
          "transcript_support_level": 1,
          "aa_start": 802,
          "aa_end": null,
          "aa_length": 1472,
          "cds_start": 2404,
          "cds_end": null,
          "cds_length": 4419,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000572882.3"
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2737G>A",
          "hgvs_p": "p.Ala913Thr",
          "transcript": "ENST00000914156.1",
          "protein_id": "ENSP00000584215.1",
          "transcript_support_level": null,
          "aa_start": 913,
          "aa_end": null,
          "aa_length": 1583,
          "cds_start": 2737,
          "cds_end": null,
          "cds_length": 4752,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914156.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2581G>A",
          "hgvs_p": "p.Ala861Thr",
          "transcript": "ENST00000399408.7",
          "protein_id": "ENSP00000382340.4",
          "transcript_support_level": 5,
          "aa_start": 861,
          "aa_end": null,
          "aa_length": 1541,
          "cds_start": 2581,
          "cds_end": null,
          "cds_length": 4626,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000399408.7"
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2569G>A",
          "hgvs_p": "p.Ala857Thr",
          "transcript": "ENST00000914151.1",
          "protein_id": "ENSP00000584210.1",
          "transcript_support_level": null,
          "aa_start": 857,
          "aa_end": null,
          "aa_length": 1527,
          "cds_start": 2569,
          "cds_end": null,
          "cds_length": 4584,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914151.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2539G>A",
          "hgvs_p": "p.Ala847Thr",
          "transcript": "ENST00000914157.1",
          "protein_id": "ENSP00000584216.1",
          "transcript_support_level": null,
          "aa_start": 847,
          "aa_end": null,
          "aa_length": 1517,
          "cds_start": 2539,
          "cds_end": null,
          "cds_length": 4554,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914157.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2455G>A",
          "hgvs_p": "p.Ala819Thr",
          "transcript": "NM_019901.2",
          "protein_id": "NP_063956.2",
          "transcript_support_level": null,
          "aa_start": 819,
          "aa_end": null,
          "aa_length": 1489,
          "cds_start": 2455,
          "cds_end": null,
          "cds_length": 4470,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_019901.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2455G>A",
          "hgvs_p": "p.Ala819Thr",
          "transcript": "ENST00000914139.1",
          "protein_id": "ENSP00000584198.1",
          "transcript_support_level": null,
          "aa_start": 819,
          "aa_end": null,
          "aa_length": 1489,
          "cds_start": 2455,
          "cds_end": null,
          "cds_length": 4470,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914139.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2443G>A",
          "hgvs_p": "p.Ala815Thr",
          "transcript": "ENST00000914141.1",
          "protein_id": "ENSP00000584200.1",
          "transcript_support_level": null,
          "aa_start": 815,
          "aa_end": null,
          "aa_length": 1485,
          "cds_start": 2443,
          "cds_end": null,
          "cds_length": 4458,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914141.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2434G>A",
          "hgvs_p": "p.Ala812Thr",
          "transcript": "NM_019902.2",
          "protein_id": "NP_063957.2",
          "transcript_support_level": null,
          "aa_start": 812,
          "aa_end": null,
          "aa_length": 1482,
          "cds_start": 2434,
          "cds_end": null,
          "cds_length": 4449,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_019902.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2434G>A",
          "hgvs_p": "p.Ala812Thr",
          "transcript": "ENST00000914140.1",
          "protein_id": "ENSP00000584199.1",
          "transcript_support_level": null,
          "aa_start": 812,
          "aa_end": null,
          "aa_length": 1482,
          "cds_start": 2434,
          "cds_end": null,
          "cds_length": 4449,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914140.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2413G>A",
          "hgvs_p": "p.Ala805Thr",
          "transcript": "NM_019898.3",
          "protein_id": "NP_063953.2",
          "transcript_support_level": null,
          "aa_start": 805,
          "aa_end": null,
          "aa_length": 1475,
          "cds_start": 2413,
          "cds_end": null,
          "cds_length": 4428,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_019898.3"
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2413G>A",
          "hgvs_p": "p.Ala805Thr",
          "transcript": "ENST00000914143.1",
          "protein_id": "ENSP00000584202.1",
          "transcript_support_level": null,
          "aa_start": 805,
          "aa_end": null,
          "aa_length": 1475,
          "cds_start": 2413,
          "cds_end": null,
          "cds_length": 4428,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914143.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2404G>A",
          "hgvs_p": "p.Ala802Thr",
          "transcript": "NM_019862.3",
          "protein_id": "NP_063915.2",
          "transcript_support_level": null,
          "aa_start": 802,
          "aa_end": null,
          "aa_length": 1472,
          "cds_start": 2404,
          "cds_end": null,
          "cds_length": 4419,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_019862.3"
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2581G>A",
          "hgvs_p": "p.Ala861Thr",
          "transcript": "NM_001438755.1",
          "protein_id": "NP_001425684.1",
          "transcript_support_level": null,
          "aa_start": 861,
          "aa_end": null,
          "aa_length": 1466,
          "cds_start": 2581,
          "cds_end": null,
          "cds_length": 4401,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001438755.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2581G>A",
          "hgvs_p": "p.Ala861Thr",
          "transcript": "ENST00000914148.1",
          "protein_id": "ENSP00000584207.1",
          "transcript_support_level": null,
          "aa_start": 861,
          "aa_end": null,
          "aa_length": 1466,
          "cds_start": 2581,
          "cds_end": null,
          "cds_length": 4401,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914148.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2317G>A",
          "hgvs_p": "p.Ala773Thr",
          "transcript": "ENST00000914142.1",
          "protein_id": "ENSP00000584201.1",
          "transcript_support_level": null,
          "aa_start": 773,
          "aa_end": null,
          "aa_length": 1443,
          "cds_start": 2317,
          "cds_end": null,
          "cds_length": 4332,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914142.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2308G>A",
          "hgvs_p": "p.Ala770Thr",
          "transcript": "NM_001438715.1",
          "protein_id": "NP_001425644.1",
          "transcript_support_level": null,
          "aa_start": 770,
          "aa_end": null,
          "aa_length": 1440,
          "cds_start": 2308,
          "cds_end": null,
          "cds_length": 4323,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001438715.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.2308G>A",
          "hgvs_p": "p.Ala770Thr",
          "transcript": "ENST00000914149.1",
          "protein_id": "ENSP00000584208.1",
          "transcript_support_level": null,
          "aa_start": 770,
          "aa_end": null,
          "aa_length": 1440,
          "cds_start": 2308,
          "cds_end": null,
          "cds_length": 4323,
          "cdna_start": null,
          "cdna_end": null,
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      "mitotip_prediction": null,
      "acmg_score": 2,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2",
      "acmg_by_gene": [
        {
          "score": 2,
          "benign_score": 0,
          "pathogenic_score": 2,
          "criteria": [
            "PM2"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_004996.4",
          "gene_symbol": "ABCC1",
          "hgnc_id": 51,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "Unknown,AD",
          "hgvs_c": "c.2581G>A",
          "hgvs_p": "p.Ala861Thr"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}
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