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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: 19-10961134-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10961134&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "19",
      "pos": 10961134,
      "ref": "C",
      "alt": "T",
      "effect": "5_prime_UTR_variant",
      "transcript": "NM_003072.5",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA4",
          "gene_hgnc_id": 11100,
          "hgvs_c": "c.-69C>T",
          "hgvs_p": null,
          "transcript": "NM_001387283.1",
          "protein_id": "NP_001374212.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1679,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5040,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5670,
          "mane_select": null,
          "mane_plus": "ENST00000646693.2",
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA4",
          "gene_hgnc_id": 11100,
          "hgvs_c": "c.-69C>T",
          "hgvs_p": null,
          "transcript": "ENST00000646693.2",
          "protein_id": "ENSP00000495368.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1679,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5040,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5670,
          "mane_select": null,
          "mane_plus": "NM_001387283.1",
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA4",
          "gene_hgnc_id": 11100,
          "hgvs_c": "c.-72C>T",
          "hgvs_p": null,
          "transcript": "NM_003072.5",
          "protein_id": "NP_003063.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1647,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4944,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5577,
          "mane_select": "ENST00000344626.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA4",
          "gene_hgnc_id": 11100,
          "hgvs_c": "c.-72C>T",
          "hgvs_p": null,
          "transcript": "ENST00000344626.10",
          "protein_id": "ENSP00000343896.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1647,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4944,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5577,
          "mane_select": "NM_003072.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA4",
          "gene_hgnc_id": 11100,
          "hgvs_c": "c.-69C>T",
          "hgvs_p": null,
          "transcript": "ENST00000643549.1",
          "protein_id": "ENSP00000493975.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1649,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4950,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5609,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA4",
          "gene_hgnc_id": 11100,
          "hgvs_c": "c.-232C>T",
          "hgvs_p": null,
          "transcript": "ENST00000541122.6",
          "protein_id": "ENSP00000445036.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1617,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4854,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5139,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA4",
          "gene_hgnc_id": 11100,
          "hgvs_c": "c.-72C>T",
          "hgvs_p": null,
          "transcript": "ENST00000643296.1",
          "protein_id": "ENSP00000496635.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1617,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4854,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5563,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA4",
          "gene_hgnc_id": 11100,
          "hgvs_c": "c.-69C>T",
          "hgvs_p": null,
          "transcript": "ENST00000644737.1",
          "protein_id": "ENSP00000495548.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1617,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4854,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5777,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA4",
          "gene_hgnc_id": 11100,
          "hgvs_c": "c.-301C>T",
          "hgvs_p": null,
          "transcript": "ENST00000589677.5",
          "protein_id": "ENSP00000464778.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1616,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4851,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5181,
          "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": 35,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA4",
          "gene_hgnc_id": 11100,
          "hgvs_c": "n.-69C>T",
          "hgvs_p": null,
          "transcript": "ENST00000704344.1",
          "protein_id": "ENSP00000515855.1",
          "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": 5442,
          "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": 36,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA4",
          "gene_hgnc_id": 11100,
          "hgvs_c": "n.105C>T",
          "hgvs_p": null,
          "transcript": "NR_164683.1",
          "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": 5788,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA4",
          "gene_hgnc_id": 11100,
          "hgvs_c": "c.-72C>T",
          "hgvs_p": null,
          "transcript": "NM_001128849.3",
          "protein_id": "NP_001122321.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 5673,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA4",
          "gene_hgnc_id": 11100,
          "hgvs_c": "c.-72C>T",
          "hgvs_p": null,
          "transcript": "ENST00000711079.1",
          "protein_id": "ENSP00000518564.1",
          "transcript_support_level": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA4",
          "gene_hgnc_id": 11100,
          "hgvs_c": "c.-148C>T",
          "hgvs_p": null,
          "transcript": "NM_001128844.3",
          "protein_id": "NP_001122316.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1647,
          "cds_start": -4,
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          "cds_length": 4944,
          "cdna_start": null,
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          "cdna_length": 5653,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA4",
          "gene_hgnc_id": 11100,
          "hgvs_c": "c.-148C>T",
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          "transcript": "ENST00000429416.8",
          "protein_id": "ENSP00000395654.1",
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          "mane_select": null,
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          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA4",
          "gene_hgnc_id": 11100,
          "hgvs_c": "c.-69C>T",
          "hgvs_p": null,
          "transcript": "NM_001411150.1",
          "protein_id": "NP_001398079.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1646,
          "cds_start": -4,
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          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5571,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA4",
          "gene_hgnc_id": 11100,
          "hgvs_c": "c.-72C>T",
          "hgvs_p": null,
          "transcript": "ENST00000642628.1",
          "protein_id": "ENSP00000496498.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cdna_start": null,
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          "cdna_length": 5637,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": null,
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          "gene_symbol": "SMARCA4",
          "gene_hgnc_id": 11100,
          "hgvs_c": "c.-69C>T",
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          "transcript": "ENST00000642726.1",
          "protein_id": "ENSP00000494353.1",
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        {
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            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA4",
          "gene_hgnc_id": 11100,
          "hgvs_c": "c.-72C>T",
          "hgvs_p": null,
          "transcript": "NM_001128847.4",
          "protein_id": "NP_001122319.1",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
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          "exon_count": 34,
          "intron_rank": null,
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          "gene_symbol": "SMARCA4",
          "gene_hgnc_id": 11100,
          "hgvs_c": "c.-69C>T",
          "hgvs_p": null,
          "transcript": "NM_001374457.1",
          "protein_id": "NP_001361386.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 5475,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCA4",
          "gene_hgnc_id": 11100,
          "hgvs_c": "c.-69C>T",
          "hgvs_p": null,
          "transcript": "ENST00000646484.1",
          "protein_id": "ENSP00000495536.1",
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      "gnomad_genomes_af": 0.00196604,
      "gnomad_exomes_ac": 0,
      "gnomad_genomes_ac": 292,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 4,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.20999999344348907,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.21,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.137,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "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": -18,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BS1,BS2",
      "acmg_by_gene": [
        {
          "score": -18,
          "benign_score": 18,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate",
            "BP6_Very_Strong",
            "BS1",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "NM_003072.5",
          "gene_symbol": "SMARCA4",
          "hgnc_id": 11100,
          "effects": [
            "5_prime_UTR_variant"
          ],
          "inheritance_mode": "AD,AR",
          "hgvs_c": "c.-72C>T",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Coffin-Siris syndrome,not provided",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "LB:2",
      "phenotype_combined": "Coffin-Siris syndrome|not provided",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}