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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: 11-126292998-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=126292998&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 126292998,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_148910.3",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TIRAP",
          "gene_hgnc_id": 17192,
          "hgvs_c": "c.589G>A",
          "hgvs_p": "p.Val197Ile",
          "transcript": "NM_001318777.2",
          "protein_id": "NP_001305706.1",
          "transcript_support_level": null,
          "aa_start": 197,
          "aa_end": null,
          "aa_length": 221,
          "cds_start": 589,
          "cds_end": null,
          "cds_length": 666,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000392679.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001318777.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TIRAP",
          "gene_hgnc_id": 17192,
          "hgvs_c": "c.589G>A",
          "hgvs_p": "p.Val197Ile",
          "transcript": "ENST00000392679.6",
          "protein_id": "ENSP00000376446.1",
          "transcript_support_level": 2,
          "aa_start": 197,
          "aa_end": null,
          "aa_length": 221,
          "cds_start": 589,
          "cds_end": null,
          "cds_length": 666,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001318777.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000392679.6"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TIRAP",
          "gene_hgnc_id": 17192,
          "hgvs_c": "c.589G>A",
          "hgvs_p": "p.Val197Ile",
          "transcript": "ENST00000392678.7",
          "protein_id": "ENSP00000376445.3",
          "transcript_support_level": 1,
          "aa_start": 197,
          "aa_end": null,
          "aa_length": 235,
          "cds_start": 589,
          "cds_end": null,
          "cds_length": 708,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000392678.7"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TIRAP",
          "gene_hgnc_id": 17192,
          "hgvs_c": "c.589G>A",
          "hgvs_p": "p.Val197Ile",
          "transcript": "ENST00000392680.6",
          "protein_id": "ENSP00000376447.2",
          "transcript_support_level": 1,
          "aa_start": 197,
          "aa_end": null,
          "aa_length": 221,
          "cds_start": 589,
          "cds_end": null,
          "cds_length": 666,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000392680.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TIRAP",
          "gene_hgnc_id": 17192,
          "hgvs_c": "n.589G>A",
          "hgvs_p": null,
          "transcript": "ENST00000479770.2",
          "protein_id": "ENSP00000436967.1",
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000479770.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TIRAP",
          "gene_hgnc_id": 17192,
          "hgvs_c": "c.667G>A",
          "hgvs_p": "p.Val223Ile",
          "transcript": "ENST00000871300.1",
          "protein_id": "ENSP00000541359.1",
          "transcript_support_level": null,
          "aa_start": 223,
          "aa_end": null,
          "aa_length": 247,
          "cds_start": 667,
          "cds_end": null,
          "cds_length": 744,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000871300.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TIRAP",
          "gene_hgnc_id": 17192,
          "hgvs_c": "c.589G>A",
          "hgvs_p": "p.Val197Ile",
          "transcript": "NM_001318776.2",
          "protein_id": "NP_001305705.1",
          "transcript_support_level": null,
          "aa_start": 197,
          "aa_end": null,
          "aa_length": 235,
          "cds_start": 589,
          "cds_end": null,
          "cds_length": 708,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001318776.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TIRAP",
          "gene_hgnc_id": 17192,
          "hgvs_c": "c.589G>A",
          "hgvs_p": "p.Val197Ile",
          "transcript": "NM_148910.3",
          "protein_id": "NP_683708.1",
          "transcript_support_level": null,
          "aa_start": 197,
          "aa_end": null,
          "aa_length": 235,
          "cds_start": 589,
          "cds_end": null,
          "cds_length": 708,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_148910.3"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TIRAP",
          "gene_hgnc_id": 17192,
          "hgvs_c": "c.589G>A",
          "hgvs_p": "p.Val197Ile",
          "transcript": "ENST00000700491.1",
          "protein_id": "ENSP00000515019.1",
          "transcript_support_level": null,
          "aa_start": 197,
          "aa_end": null,
          "aa_length": 235,
          "cds_start": 589,
          "cds_end": null,
          "cds_length": 708,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000700491.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TIRAP",
          "gene_hgnc_id": 17192,
          "hgvs_c": "c.589G>A",
          "hgvs_p": "p.Val197Ile",
          "transcript": "ENST00000700492.1",
          "protein_id": "ENSP00000515021.1",
          "transcript_support_level": null,
          "aa_start": 197,
          "aa_end": null,
          "aa_length": 235,
          "cds_start": 589,
          "cds_end": null,
          "cds_length": 708,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000700492.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TIRAP",
          "gene_hgnc_id": 17192,
          "hgvs_c": "c.589G>A",
          "hgvs_p": "p.Val197Ile",
          "transcript": "NM_001039661.2",
          "protein_id": "NP_001034750.1",
          "transcript_support_level": null,
          "aa_start": 197,
          "aa_end": null,
          "aa_length": 221,
          "cds_start": 589,
          "cds_end": null,
          "cds_length": 666,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001039661.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TIRAP",
          "gene_hgnc_id": 17192,
          "hgvs_c": "c.589G>A",
          "hgvs_p": "p.Val197Ile",
          "transcript": "ENST00000700488.1",
          "protein_id": "ENSP00000515016.1",
          "transcript_support_level": null,
          "aa_start": 197,
          "aa_end": null,
          "aa_length": 221,
          "cds_start": 589,
          "cds_end": null,
          "cds_length": 666,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000700488.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TIRAP",
          "gene_hgnc_id": 17192,
          "hgvs_c": "c.589G>A",
          "hgvs_p": "p.Val197Ile",
          "transcript": "ENST00000700489.1",
          "protein_id": "ENSP00000515017.1",
          "transcript_support_level": null,
          "aa_start": 197,
          "aa_end": null,
          "aa_length": 221,
          "cds_start": 589,
          "cds_end": null,
          "cds_length": 666,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000700489.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TIRAP",
          "gene_hgnc_id": 17192,
          "hgvs_c": "c.589G>A",
          "hgvs_p": "p.Val197Ile",
          "transcript": "ENST00000700490.1",
          "protein_id": "ENSP00000515018.1",
          "transcript_support_level": null,
          "aa_start": 197,
          "aa_end": null,
          "aa_length": 221,
          "cds_start": 589,
          "cds_end": null,
          "cds_length": 666,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000700490.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TIRAP",
          "gene_hgnc_id": 17192,
          "hgvs_c": "c.589G>A",
          "hgvs_p": "p.Val197Ile",
          "transcript": "ENST00000871298.1",
          "protein_id": "ENSP00000541357.1",
          "transcript_support_level": null,
          "aa_start": 197,
          "aa_end": null,
          "aa_length": 221,
          "cds_start": 589,
          "cds_end": null,
          "cds_length": 666,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000871298.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TIRAP",
          "gene_hgnc_id": 17192,
          "hgvs_c": "c.589G>A",
          "hgvs_p": "p.Val197Ile",
          "transcript": "ENST00000871301.1",
          "protein_id": "ENSP00000541360.1",
          "transcript_support_level": null,
          "aa_start": 197,
          "aa_end": null,
          "aa_length": 221,
          "cds_start": 589,
          "cds_end": null,
          "cds_length": 666,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000871301.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TIRAP",
          "gene_hgnc_id": 17192,
          "hgvs_c": "c.589G>A",
          "hgvs_p": "p.Val197Ile",
          "transcript": "ENST00000871302.1",
          "protein_id": "ENSP00000541361.1",
          "transcript_support_level": null,
          "aa_start": 197,
          "aa_end": null,
          "aa_length": 221,
          "cds_start": 589,
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          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000871302.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TIRAP",
          "gene_hgnc_id": 17192,
          "hgvs_c": "c.589G>A",
          "hgvs_p": "p.Val197Ile",
          "transcript": "ENST00000937665.1",
          "protein_id": "ENSP00000607724.1",
          "transcript_support_level": null,
          "aa_start": 197,
          "aa_end": null,
          "aa_length": 221,
          "cds_start": 589,
          "cds_end": null,
          "cds_length": 666,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000937665.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TIRAP",
          "gene_hgnc_id": 17192,
          "hgvs_c": "c.589G>A",
          "hgvs_p": "p.Val197Ile",
          "transcript": "ENST00000952352.1",
          "protein_id": "ENSP00000622411.1",
          "transcript_support_level": null,
          "aa_start": 197,
          "aa_end": null,
          "aa_length": 221,
          "cds_start": 589,
          "cds_end": null,
          "cds_length": 666,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000952352.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TIRAP",
          "gene_hgnc_id": 17192,
          "hgvs_c": "c.589G>A",
          "hgvs_p": "p.Val197Ile",
          "transcript": "ENST00000952353.1",
          "protein_id": "ENSP00000622412.1",
          "transcript_support_level": null,
          "aa_start": 197,
          "aa_end": null,
          "aa_length": 221,
          "cds_start": 589,
          "cds_end": null,
          "cds_length": 666,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000952353.1"
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      "computational_source_selected": "MetaRNN",
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      "splice_source_selected": "max_spliceai",
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      "revel_prediction": "Benign",
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      "bayesdelnoaf_score": -0.72,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 3.512,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
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      "acmg_score": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BS1,BS2",
      "acmg_by_gene": [
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          "benign_score": 12,
          "pathogenic_score": 0,
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          "verdict": "Benign",
          "transcript": "NM_148910.3",
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          "effects": [
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          ],
          "inheritance_mode": "",
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        {
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          "pathogenic_score": 0,
          "criteria": [
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            "BS2"
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          "verdict": "Benign",
          "transcript": "ENST00000533378.1",
          "gene_symbol": "ENSG00000254905",
          "hgnc_id": null,
          "effects": [
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          "inheritance_mode": "",
          "hgvs_c": "n.416C>T",
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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
}