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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: 5-112841981-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=112841981&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 112841981,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "ENST00000257430.9",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6387G>A",
          "hgvs_p": "p.Ser2129Ser",
          "transcript": "NM_000038.6",
          "protein_id": "NP_000029.2",
          "transcript_support_level": null,
          "aa_start": 2129,
          "aa_end": null,
          "aa_length": 2843,
          "cds_start": 6387,
          "cds_end": null,
          "cds_length": 8532,
          "cdna_start": 6446,
          "cdna_end": null,
          "cdna_length": 10704,
          "mane_select": "ENST00000257430.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6387G>A",
          "hgvs_p": "p.Ser2129Ser",
          "transcript": "ENST00000257430.9",
          "protein_id": "ENSP00000257430.4",
          "transcript_support_level": 5,
          "aa_start": 2129,
          "aa_end": null,
          "aa_length": 2843,
          "cds_start": 6387,
          "cds_end": null,
          "cds_length": 8532,
          "cdna_start": 6446,
          "cdna_end": null,
          "cdna_length": 10704,
          "mane_select": "NM_000038.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6387G>A",
          "hgvs_p": "p.Ser2129Ser",
          "transcript": "ENST00000508376.6",
          "protein_id": "ENSP00000427089.2",
          "transcript_support_level": 1,
          "aa_start": 2129,
          "aa_end": null,
          "aa_length": 2843,
          "cds_start": 6387,
          "cds_end": null,
          "cds_length": 8532,
          "cdna_start": 6544,
          "cdna_end": null,
          "cdna_length": 10619,
          "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": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "n.*5709G>A",
          "hgvs_p": null,
          "transcript": "ENST00000508624.5",
          "protein_id": "ENSP00000424265.1",
          "transcript_support_level": 1,
          "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": 7406,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "n.*5709G>A",
          "hgvs_p": null,
          "transcript": "ENST00000508624.5",
          "protein_id": "ENSP00000424265.1",
          "transcript_support_level": 1,
          "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": 7406,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000258864",
          "gene_hgnc_id": null,
          "hgvs_c": "n.228+13009G>A",
          "hgvs_p": null,
          "transcript": "ENST00000520401.1",
          "protein_id": "ENSP00000454861.1",
          "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": 694,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6471G>A",
          "hgvs_p": "p.Ser2157Ser",
          "transcript": "NM_001407446.1",
          "protein_id": "NP_001394375.1",
          "transcript_support_level": null,
          "aa_start": 2157,
          "aa_end": null,
          "aa_length": 2871,
          "cds_start": 6471,
          "cds_end": null,
          "cds_length": 8616,
          "cdna_start": 6691,
          "cdna_end": null,
          "cdna_length": 10949,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6441G>A",
          "hgvs_p": "p.Ser2147Ser",
          "transcript": "NM_001354896.2",
          "protein_id": "NP_001341825.1",
          "transcript_support_level": null,
          "aa_start": 2147,
          "aa_end": null,
          "aa_length": 2861,
          "cds_start": 6441,
          "cds_end": null,
          "cds_length": 8586,
          "cdna_start": 6500,
          "cdna_end": null,
          "cdna_length": 10758,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6441G>A",
          "hgvs_p": "p.Ser2147Ser",
          "transcript": "NM_001407447.1",
          "protein_id": "NP_001394376.1",
          "transcript_support_level": null,
          "aa_start": 2147,
          "aa_end": null,
          "aa_length": 2861,
          "cds_start": 6441,
          "cds_end": null,
          "cds_length": 8586,
          "cdna_start": 6844,
          "cdna_end": null,
          "cdna_length": 11102,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6441G>A",
          "hgvs_p": "p.Ser2147Ser",
          "transcript": "NM_001407448.1",
          "protein_id": "NP_001394377.1",
          "transcript_support_level": null,
          "aa_start": 2147,
          "aa_end": null,
          "aa_length": 2861,
          "cds_start": 6441,
          "cds_end": null,
          "cds_length": 8586,
          "cdna_start": 6611,
          "cdna_end": null,
          "cdna_length": 10869,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6441G>A",
          "hgvs_p": "p.Ser2147Ser",
          "transcript": "NM_001407449.1",
          "protein_id": "NP_001394378.1",
          "transcript_support_level": null,
          "aa_start": 2147,
          "aa_end": null,
          "aa_length": 2861,
          "cds_start": 6441,
          "cds_end": null,
          "cds_length": 8586,
          "cdna_start": 6608,
          "cdna_end": null,
          "cdna_length": 10866,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6441G>A",
          "hgvs_p": "p.Ser2147Ser",
          "transcript": "ENST00000504915.3",
          "protein_id": "ENSP00000473355.2",
          "transcript_support_level": 5,
          "aa_start": 2147,
          "aa_end": null,
          "aa_length": 2861,
          "cds_start": 6441,
          "cds_end": null,
          "cds_length": 8586,
          "cdna_start": 6497,
          "cdna_end": null,
          "cdna_length": 9496,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6417G>A",
          "hgvs_p": "p.Ser2139Ser",
          "transcript": "NM_001354897.2",
          "protein_id": "NP_001341826.1",
          "transcript_support_level": null,
          "aa_start": 2139,
          "aa_end": null,
          "aa_length": 2853,
          "cds_start": 6417,
          "cds_end": null,
          "cds_length": 8562,
          "cdna_start": 6637,
          "cdna_end": null,
          "cdna_length": 10895,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6387G>A",
          "hgvs_p": "p.Ser2129Ser",
          "transcript": "NM_001127510.3",
          "protein_id": "NP_001120982.1",
          "transcript_support_level": null,
          "aa_start": 2129,
          "aa_end": null,
          "aa_length": 2843,
          "cds_start": 6387,
          "cds_end": null,
          "cds_length": 8532,
          "cdna_start": 6554,
          "cdna_end": null,
          "cdna_length": 10812,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6387G>A",
          "hgvs_p": "p.Ser2129Ser",
          "transcript": "NM_001354895.2",
          "protein_id": "NP_001341824.1",
          "transcript_support_level": null,
          "aa_start": 2129,
          "aa_end": null,
          "aa_length": 2843,
          "cds_start": 6387,
          "cds_end": null,
          "cds_length": 8532,
          "cdna_start": 6790,
          "cdna_end": null,
          "cdna_length": 11048,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6387G>A",
          "hgvs_p": "p.Ser2129Ser",
          "transcript": "NM_001407450.1",
          "protein_id": "NP_001394379.1",
          "transcript_support_level": null,
          "aa_start": 2129,
          "aa_end": null,
          "aa_length": 2843,
          "cds_start": 6387,
          "cds_end": null,
          "cds_length": 8532,
          "cdna_start": 6557,
          "cdna_end": null,
          "cdna_length": 10815,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6387G>A",
          "hgvs_p": "p.Ser2129Ser",
          "transcript": "ENST00000509732.6",
          "protein_id": "ENSP00000426541.2",
          "transcript_support_level": 4,
          "aa_start": 2129,
          "aa_end": null,
          "aa_length": 2843,
          "cds_start": 6387,
          "cds_end": null,
          "cds_length": 8532,
          "cdna_start": 6537,
          "cdna_end": null,
          "cdna_length": 10616,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6387G>A",
          "hgvs_p": "p.Ser2129Ser",
          "transcript": "ENST00000512211.7",
          "protein_id": "ENSP00000423828.3",
          "transcript_support_level": 2,
          "aa_start": 2129,
          "aa_end": null,
          "aa_length": 2843,
          "cds_start": 6387,
          "cds_end": null,
          "cds_length": 8532,
          "cdna_start": 6738,
          "cdna_end": null,
          "cdna_length": 9737,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6366G>A",
          "hgvs_p": "p.Ser2122Ser",
          "transcript": "NM_001407451.1",
          "protein_id": "NP_001394380.1",
          "transcript_support_level": null,
          "aa_start": 2122,
          "aa_end": null,
          "aa_length": 2836,
          "cds_start": 6366,
          "cds_end": null,
          "cds_length": 8511,
          "cdna_start": 6455,
          "cdna_end": null,
          "cdna_length": 10713,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "APC",
          "gene_hgnc_id": 583,
          "hgvs_c": "c.6357G>A",
          "hgvs_p": "p.Ser2119Ser",
          "transcript": "NM_001407452.1",
          "protein_id": "NP_001394381.1",
          "transcript_support_level": null,
          "aa_start": 2119,
          "aa_end": null,
          "aa_length": 2833,
          "cds_start": 6357,
          "cds_end": null,
          "cds_length": 8502,
          "cdna_start": 6760,
          "cdna_end": null,
          "cdna_length": 11018,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
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      ],
      "gene_symbol": "APC",
      "gene_hgnc_id": 583,
      "dbsnp": "rs374310157",
      "frequency_reference_population": 0.000071305534,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 115,
      "gnomad_exomes_af": 0.000074622,
      "gnomad_genomes_af": 0.0000394524,
      "gnomad_exomes_ac": 109,
      "gnomad_genomes_ac": 6,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.7699999809265137,
      "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": -0.77,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.794,
      "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": -13,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
      "acmg_by_gene": [
        {
          "score": -13,
          "benign_score": 13,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BP7"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000257430.9",
          "gene_symbol": "APC",
          "hgnc_id": 583,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD,AR",
          "hgvs_c": "c.6387G>A",
          "hgvs_p": "p.Ser2129Ser"
        },
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000520401.1",
          "gene_symbol": "ENSG00000258864",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.228+13009G>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "APC-Associated Polyposis Disorders,Classic or attenuated familial adenomatous polyposis,Familial adenomatous polyposis 1,Hereditary cancer-predisposing syndrome,Malignant tumor of breast,not provided,not specified",
      "clinvar_classification": "Benign/Likely benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "LB:4 B:9",
      "phenotype_combined": "APC-Associated Polyposis Disorders|Hereditary cancer-predisposing syndrome|Malignant tumor of breast|not specified|not provided|Familial adenomatous polyposis 1|Classic or attenuated familial adenomatous polyposis",
      "pathogenicity_classification_combined": "Benign/Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}