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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: 11-61366177-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61366177&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 61366177,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_001410999.1",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM138",
          "gene_hgnc_id": 26944,
          "hgvs_c": "c.261G>A",
          "hgvs_p": "p.Val87Val",
          "transcript": "NM_016464.5",
          "protein_id": "NP_057548.1",
          "transcript_support_level": null,
          "aa_start": 87,
          "aa_end": null,
          "aa_length": 162,
          "cds_start": 261,
          "cds_end": null,
          "cds_length": 489,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000278826.11",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_016464.5"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM138",
          "gene_hgnc_id": 26944,
          "hgvs_c": "c.261G>A",
          "hgvs_p": "p.Val87Val",
          "transcript": "ENST00000278826.11",
          "protein_id": "ENSP00000278826.5",
          "transcript_support_level": 1,
          "aa_start": 87,
          "aa_end": null,
          "aa_length": 162,
          "cds_start": 261,
          "cds_end": null,
          "cds_length": 489,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_016464.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000278826.11"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM138",
          "gene_hgnc_id": 26944,
          "hgvs_c": "c.261G>A",
          "hgvs_p": "p.Val87Val",
          "transcript": "ENST00000542946.2",
          "protein_id": "ENSP00000445792.1",
          "transcript_support_level": 1,
          "aa_start": 87,
          "aa_end": null,
          "aa_length": 105,
          "cds_start": 261,
          "cds_end": null,
          "cds_length": 318,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000542946.2"
        },
        {
          "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": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM138",
          "gene_hgnc_id": 26944,
          "hgvs_c": "n.360G>A",
          "hgvs_p": null,
          "transcript": "ENST00000534963.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000534963.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM138",
          "gene_hgnc_id": 26944,
          "hgvs_c": "n.*472G>A",
          "hgvs_p": null,
          "transcript": "ENST00000543594.6",
          "protein_id": "ENSP00000509354.1",
          "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": "ENST00000543594.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM138",
          "gene_hgnc_id": 26944,
          "hgvs_c": "n.*472G>A",
          "hgvs_p": null,
          "transcript": "ENST00000543594.6",
          "protein_id": "ENSP00000509354.1",
          "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": "ENST00000543594.6"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM138",
          "gene_hgnc_id": 26944,
          "hgvs_c": "c.261G>A",
          "hgvs_p": "p.Val87Val",
          "transcript": "ENST00000692667.1",
          "protein_id": "ENSP00000510180.1",
          "transcript_support_level": null,
          "aa_start": 87,
          "aa_end": null,
          "aa_length": 193,
          "cds_start": 261,
          "cds_end": null,
          "cds_length": 582,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000692667.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM138",
          "gene_hgnc_id": 26944,
          "hgvs_c": "c.261G>A",
          "hgvs_p": "p.Val87Val",
          "transcript": "ENST00000685597.1",
          "protein_id": "ENSP00000509403.1",
          "transcript_support_level": null,
          "aa_start": 87,
          "aa_end": null,
          "aa_length": 187,
          "cds_start": 261,
          "cds_end": null,
          "cds_length": 564,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000685597.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM138",
          "gene_hgnc_id": 26944,
          "hgvs_c": "c.261G>A",
          "hgvs_p": "p.Val87Val",
          "transcript": "NM_001410999.1",
          "protein_id": "NP_001397928.1",
          "transcript_support_level": null,
          "aa_start": 87,
          "aa_end": null,
          "aa_length": 177,
          "cds_start": 261,
          "cds_end": null,
          "cds_length": 534,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001410999.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM138",
          "gene_hgnc_id": 26944,
          "hgvs_c": "c.261G>A",
          "hgvs_p": "p.Val87Val",
          "transcript": "ENST00000692785.1",
          "protein_id": "ENSP00000509310.1",
          "transcript_support_level": null,
          "aa_start": 87,
          "aa_end": null,
          "aa_length": 177,
          "cds_start": 261,
          "cds_end": null,
          "cds_length": 534,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000692785.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM138",
          "gene_hgnc_id": 26944,
          "hgvs_c": "c.270G>A",
          "hgvs_p": "p.Val90Val",
          "transcript": "ENST00000886939.1",
          "protein_id": "ENSP00000556998.1",
          "transcript_support_level": null,
          "aa_start": 90,
          "aa_end": null,
          "aa_length": 164,
          "cds_start": 270,
          "cds_end": null,
          "cds_length": 495,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886939.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM138",
          "gene_hgnc_id": 26944,
          "hgvs_c": "c.261G>A",
          "hgvs_p": "p.Val87Val",
          "transcript": "ENST00000692219.1",
          "protein_id": "ENSP00000510149.1",
          "transcript_support_level": null,
          "aa_start": 87,
          "aa_end": null,
          "aa_length": 162,
          "cds_start": 261,
          "cds_end": null,
          "cds_length": 489,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000692219.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM138",
          "gene_hgnc_id": 26944,
          "hgvs_c": "c.261G>A",
          "hgvs_p": "p.Val87Val",
          "transcript": "ENST00000886940.1",
          "protein_id": "ENSP00000556999.1",
          "transcript_support_level": null,
          "aa_start": 87,
          "aa_end": null,
          "aa_length": 162,
          "cds_start": 261,
          "cds_end": null,
          "cds_length": 489,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886940.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM138",
          "gene_hgnc_id": 26944,
          "hgvs_c": "c.261G>A",
          "hgvs_p": "p.Val87Val",
          "transcript": "ENST00000886941.1",
          "protein_id": "ENSP00000557000.1",
          "transcript_support_level": null,
          "aa_start": 87,
          "aa_end": null,
          "aa_length": 162,
          "cds_start": 261,
          "cds_end": null,
          "cds_length": 489,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886941.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM138",
          "gene_hgnc_id": 26944,
          "hgvs_c": "c.261G>A",
          "hgvs_p": "p.Val87Val",
          "transcript": "ENST00000928756.1",
          "protein_id": "ENSP00000598815.1",
          "transcript_support_level": null,
          "aa_start": 87,
          "aa_end": null,
          "aa_length": 162,
          "cds_start": 261,
          "cds_end": null,
          "cds_length": 489,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000928756.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM138",
          "gene_hgnc_id": 26944,
          "hgvs_c": "c.261G>A",
          "hgvs_p": "p.Val87Val",
          "transcript": "ENST00000928757.1",
          "protein_id": "ENSP00000598816.1",
          "transcript_support_level": null,
          "aa_start": 87,
          "aa_end": null,
          "aa_length": 162,
          "cds_start": 261,
          "cds_end": null,
          "cds_length": 489,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000928757.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM138",
          "gene_hgnc_id": 26944,
          "hgvs_c": "c.261G>A",
          "hgvs_p": "p.Val87Val",
          "transcript": "ENST00000928758.1",
          "protein_id": "ENSP00000598817.1",
          "transcript_support_level": null,
          "aa_start": 87,
          "aa_end": null,
          "aa_length": 162,
          "cds_start": 261,
          "cds_end": null,
          "cds_length": 489,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000928758.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM138",
          "gene_hgnc_id": 26944,
          "hgvs_c": "c.261G>A",
          "hgvs_p": "p.Val87Val",
          "transcript": "NM_001441180.1",
          "protein_id": "NP_001428109.1",
          "transcript_support_level": null,
          "aa_start": 87,
          "aa_end": null,
          "aa_length": 161,
          "cds_start": 261,
          "cds_end": null,
          "cds_length": 486,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001441180.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM138",
          "gene_hgnc_id": 26944,
          "hgvs_c": "c.261G>A",
          "hgvs_p": "p.Val87Val",
          "transcript": "NM_001441181.1",
          "protein_id": "NP_001428110.1",
          "transcript_support_level": null,
          "aa_start": 87,
          "aa_end": null,
          "aa_length": 134,
          "cds_start": 261,
          "cds_end": null,
          "cds_length": 405,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001441181.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM138",
          "gene_hgnc_id": 26944,
          "hgvs_c": "c.261G>A",
          "hgvs_p": "p.Val87Val",
          "transcript": "NM_001410998.1",
          "protein_id": "NP_001397927.1",
          "transcript_support_level": null,
          "aa_start": 87,
          "aa_end": null,
          "aa_length": 130,
          "cds_start": 261,
          "cds_end": null,
          "cds_length": 393,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001410998.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
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      "gnomad_exomes_ac": 6175,
      "gnomad_genomes_ac": 2767,
      "gnomad_exomes_homalt": 121,
      "gnomad_genomes_homalt": 76,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.7200000286102295,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.019999999552965164,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.72,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.044,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.02,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -21,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
      "acmg_by_gene": [
        {
          "score": -21,
          "benign_score": 21,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BP7",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_001410999.1",
          "gene_symbol": "TMEM138",
          "hgnc_id": 26944,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.261G>A",
          "hgvs_p": "p.Val87Val"
        }
      ],
      "clinvar_disease": "Joubert syndrome 16,not provided,not specified",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "B:7",
      "phenotype_combined": "not specified|Joubert syndrome 16|not provided",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}