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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: 11-6319295-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=6319295&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 6319295,
      "ref": "A",
      "alt": "G",
      "effect": "synonymous_variant",
      "transcript": "ENST00000303927.4",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAVIN3",
          "gene_hgnc_id": 9400,
          "hgvs_c": "c.654T>C",
          "hgvs_p": "p.Ala218Ala",
          "transcript": "NM_145040.3",
          "protein_id": "NP_659477.2",
          "transcript_support_level": null,
          "aa_start": 218,
          "aa_end": null,
          "aa_length": 261,
          "cds_start": 654,
          "cds_end": null,
          "cds_length": 786,
          "cdna_start": 679,
          "cdna_end": null,
          "cdna_length": 1028,
          "mane_select": "ENST00000303927.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAVIN3",
          "gene_hgnc_id": 9400,
          "hgvs_c": "c.654T>C",
          "hgvs_p": "p.Ala218Ala",
          "transcript": "ENST00000303927.4",
          "protein_id": "ENSP00000307292.3",
          "transcript_support_level": 1,
          "aa_start": 218,
          "aa_end": null,
          "aa_length": 261,
          "cds_start": 654,
          "cds_end": null,
          "cds_length": 786,
          "cdna_start": 679,
          "cdna_end": null,
          "cdna_length": 1028,
          "mane_select": "NM_145040.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAVIN3",
          "gene_hgnc_id": 9400,
          "hgvs_c": "c.750T>C",
          "hgvs_p": "p.Ala250Ala",
          "transcript": "ENST00000530979.1",
          "protein_id": "ENSP00000432047.1",
          "transcript_support_level": 2,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 293,
          "cds_start": 750,
          "cds_end": null,
          "cds_length": 882,
          "cdna_start": 806,
          "cdna_end": null,
          "cdna_length": 957,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": "CAVIN3",
          "gene_hgnc_id": 9400,
          "hgvs_c": "n.440T>C",
          "hgvs_p": null,
          "transcript": "ENST00000524852.1",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 605,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": "CAVIN3",
          "gene_hgnc_id": 9400,
          "hgvs_c": "n.676T>C",
          "hgvs_p": null,
          "transcript": "ENST00000532354.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1025,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000282556",
          "gene_hgnc_id": null,
          "hgvs_c": "n.156A>G",
          "hgvs_p": null,
          "transcript": "ENST00000649129.2",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3158,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000282556",
          "gene_hgnc_id": null,
          "hgvs_c": "n.158A>G",
          "hgvs_p": null,
          "transcript": "ENST00000662112.3",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3005,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000282556",
          "gene_hgnc_id": null,
          "hgvs_c": "n.165A>G",
          "hgvs_p": null,
          "transcript": "ENST00000668307.3",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1377,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000282556",
          "gene_hgnc_id": null,
          "hgvs_c": "n.131A>G",
          "hgvs_p": null,
          "transcript": "ENST00000688115.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1503,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000282556",
          "gene_hgnc_id": null,
          "hgvs_c": "n.169A>G",
          "hgvs_p": null,
          "transcript": "ENST00000688795.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1921,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000282556",
          "gene_hgnc_id": null,
          "hgvs_c": "n.165A>G",
          "hgvs_p": null,
          "transcript": "ENST00000689563.3",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1532,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000282556",
          "gene_hgnc_id": null,
          "hgvs_c": "n.153A>G",
          "hgvs_p": null,
          "transcript": "ENST00000701561.2",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 1388,
          "mane_select": null,
          "mane_plus": null,
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        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000282556",
          "gene_hgnc_id": null,
          "hgvs_c": "n.126A>G",
          "hgvs_p": null,
          "transcript": "ENST00000833446.1",
          "protein_id": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "mane_select": null,
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          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000282556",
          "gene_hgnc_id": null,
          "hgvs_c": "n.124A>G",
          "hgvs_p": null,
          "transcript": "ENST00000833447.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000282556",
          "gene_hgnc_id": null,
          "hgvs_c": "n.124A>G",
          "hgvs_p": null,
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        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000282556",
          "gene_hgnc_id": null,
          "hgvs_c": "n.124A>G",
          "hgvs_p": null,
          "transcript": "ENST00000833450.1",
          "protein_id": null,
          "transcript_support_level": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 1778,
          "mane_select": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000282556",
          "gene_hgnc_id": null,
          "hgvs_c": "n.165A>G",
          "hgvs_p": null,
          "transcript": "ENST00000833453.1",
          "protein_id": null,
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          "cdna_length": 1276,
          "mane_select": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000282556",
          "gene_hgnc_id": null,
          "hgvs_c": "n.157A>G",
          "hgvs_p": null,
          "transcript": "ENST00000833454.1",
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        {
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOC101927825",
          "gene_hgnc_id": null,
          "hgvs_c": "n.155A>G",
          "hgvs_p": null,
          "transcript": "XR_001748105.3",
          "protein_id": null,
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        {
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          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOC101927825",
          "gene_hgnc_id": null,
          "hgvs_c": "n.155A>G",
          "hgvs_p": null,
          "transcript": "XR_001748108.3",
          "protein_id": null,
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          "cdna_start": null,
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          "cdna_length": 3756,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOC101927825",
          "gene_hgnc_id": null,
          "hgvs_c": "n.155A>G",
          "hgvs_p": null,
          "transcript": "XR_001748109.3",
          "protein_id": null,
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          "cdna_start": null,
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          "cdna_length": 3109,
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      "computational_source_selected": "BayesDel_noAF",
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      "splice_prediction_selected": "Benign",
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      "bayesdelnoaf_score": -0.74,
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      "phylop100way_score": -0.254,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
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      "acmg_classification": "Likely_benign",
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      "acmg_by_gene": [
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          "verdict": "Likely_benign",
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        {
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            "BP4_Strong"
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          "verdict": "Likely_benign",
          "transcript": "ENST00000649129.2",
          "gene_symbol": "ENSG00000282556",
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          "effects": [
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          "inheritance_mode": "",
          "hgvs_c": "n.156A>G",
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        {
          "score": -2,
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          "pathogenic_score": 2,
          "criteria": [
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            "BP4_Strong"
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          "verdict": "Likely_benign",
          "transcript": "XR_242848.4",
          "gene_symbol": "LOC101927825",
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          "effects": [
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          "inheritance_mode": "",
          "hgvs_c": "n.155A>G",
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        },
        {
          "score": -2,
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          "pathogenic_score": 2,
          "criteria": [
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            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000833324.1",
          "gene_symbol": "ENSG00000308330",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.138-23981T>C",
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      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}