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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: 10-28616264-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=28616264&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 28616264,
      "ref": "C",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "ENST00000354911.9",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1648C>A",
          "hgvs_p": "p.Arg550Arg",
          "transcript": "NM_016628.5",
          "protein_id": "NP_057712.2",
          "transcript_support_level": null,
          "aa_start": 550,
          "aa_end": null,
          "aa_length": 647,
          "cds_start": 1648,
          "cds_end": null,
          "cds_length": 1944,
          "cdna_start": 2110,
          "cdna_end": null,
          "cdna_length": 5912,
          "mane_select": "ENST00000354911.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1648C>A",
          "hgvs_p": "p.Arg550Arg",
          "transcript": "ENST00000354911.9",
          "protein_id": "ENSP00000346986.4",
          "transcript_support_level": 1,
          "aa_start": 550,
          "aa_end": null,
          "aa_length": 647,
          "cds_start": 1648,
          "cds_end": null,
          "cds_length": 1944,
          "cdna_start": 2110,
          "cdna_end": null,
          "cdna_length": 5912,
          "mane_select": "NM_016628.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1513C>A",
          "hgvs_p": "p.Arg505Arg",
          "transcript": "ENST00000375664.8",
          "protein_id": "ENSP00000364816.3",
          "transcript_support_level": 1,
          "aa_start": 505,
          "aa_end": null,
          "aa_length": 602,
          "cds_start": 1513,
          "cds_end": null,
          "cds_length": 1809,
          "cdna_start": 2122,
          "cdna_end": null,
          "cdna_length": 5924,
          "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": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "n.3876C>A",
          "hgvs_p": null,
          "transcript": "ENST00000345541.6",
          "protein_id": null,
          "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": 4526,
          "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": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "n.1266C>A",
          "hgvs_p": null,
          "transcript": "ENST00000480474.2",
          "protein_id": null,
          "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": 1749,
          "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": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "n.*1074C>A",
          "hgvs_p": null,
          "transcript": "ENST00000628285.3",
          "protein_id": "ENSP00000486994.2",
          "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": 3513,
          "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": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "n.*1074C>A",
          "hgvs_p": null,
          "transcript": "ENST00000628285.3",
          "protein_id": "ENSP00000486994.2",
          "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": 3513,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1636C>A",
          "hgvs_p": "p.Arg546Arg",
          "transcript": "ENST00000700325.1",
          "protein_id": "ENSP00000514952.1",
          "transcript_support_level": null,
          "aa_start": 546,
          "aa_end": null,
          "aa_length": 643,
          "cds_start": 1636,
          "cds_end": null,
          "cds_length": 1932,
          "cdna_start": 1962,
          "cdna_end": null,
          "cdna_length": 2597,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1636C>A",
          "hgvs_p": "p.Arg546Arg",
          "transcript": "ENST00000706612.1",
          "protein_id": "ENSP00000516469.1",
          "transcript_support_level": null,
          "aa_start": 546,
          "aa_end": null,
          "aa_length": 643,
          "cds_start": 1636,
          "cds_end": null,
          "cds_length": 1932,
          "cdna_start": 2108,
          "cdna_end": null,
          "cdna_length": 5910,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1519C>A",
          "hgvs_p": "p.Arg507Arg",
          "transcript": "ENST00000680735.1",
          "protein_id": "ENSP00000505513.1",
          "transcript_support_level": null,
          "aa_start": 507,
          "aa_end": null,
          "aa_length": 604,
          "cds_start": 1519,
          "cds_end": null,
          "cds_length": 1815,
          "cdna_start": 2120,
          "cdna_end": null,
          "cdna_length": 5922,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1513C>A",
          "hgvs_p": "p.Arg505Arg",
          "transcript": "NM_100264.3",
          "protein_id": "NP_567822.1",
          "transcript_support_level": null,
          "aa_start": 505,
          "aa_end": null,
          "aa_length": 602,
          "cds_start": 1513,
          "cds_end": null,
          "cds_length": 1809,
          "cdna_start": 1836,
          "cdna_end": null,
          "cdna_length": 5638,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1513C>A",
          "hgvs_p": "p.Arg505Arg",
          "transcript": "ENST00000442148.6",
          "protein_id": "ENSP00000400848.2",
          "transcript_support_level": 5,
          "aa_start": 505,
          "aa_end": null,
          "aa_length": 602,
          "cds_start": 1513,
          "cds_end": null,
          "cds_length": 1809,
          "cdna_start": 1752,
          "cdna_end": null,
          "cdna_length": 5554,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1513C>A",
          "hgvs_p": "p.Arg505Arg",
          "transcript": "ENST00000679398.1",
          "protein_id": "ENSP00000506624.1",
          "transcript_support_level": null,
          "aa_start": 505,
          "aa_end": null,
          "aa_length": 602,
          "cds_start": 1513,
          "cds_end": null,
          "cds_length": 1809,
          "cdna_start": 1684,
          "cdna_end": null,
          "cdna_length": 5486,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1513C>A",
          "hgvs_p": "p.Arg505Arg",
          "transcript": "ENST00000679428.1",
          "protein_id": "ENSP00000506445.1",
          "transcript_support_level": null,
          "aa_start": 505,
          "aa_end": null,
          "aa_length": 602,
          "cds_start": 1513,
          "cds_end": null,
          "cds_length": 1809,
          "cdna_start": 1630,
          "cdna_end": null,
          "cdna_length": 5432,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1339C>A",
          "hgvs_p": "p.Arg447Arg",
          "transcript": "NM_100486.4",
          "protein_id": "NP_567823.1",
          "transcript_support_level": null,
          "aa_start": 447,
          "aa_end": null,
          "aa_length": 544,
          "cds_start": 1339,
          "cds_end": null,
          "cds_length": 1635,
          "cdna_start": 1801,
          "cdna_end": null,
          "cdna_length": 5603,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1339C>A",
          "hgvs_p": "p.Arg447Arg",
          "transcript": "ENST00000347934.8",
          "protein_id": "ENSP00000311106.4",
          "transcript_support_level": 5,
          "aa_start": 447,
          "aa_end": null,
          "aa_length": 544,
          "cds_start": 1339,
          "cds_end": null,
          "cds_length": 1635,
          "cdna_start": 1606,
          "cdna_end": null,
          "cdna_length": 2839,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1192C>A",
          "hgvs_p": "p.Arg398Arg",
          "transcript": "ENST00000375646.5",
          "protein_id": "ENSP00000364797.1",
          "transcript_support_level": 5,
          "aa_start": 398,
          "aa_end": null,
          "aa_length": 495,
          "cds_start": 1192,
          "cds_end": null,
          "cds_length": 1488,
          "cdna_start": 1510,
          "cdna_end": null,
          "cdna_length": 2176,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1894C>A",
          "hgvs_p": "p.Arg632Arg",
          "transcript": "XM_047425309.1",
          "protein_id": "XP_047281265.1",
          "transcript_support_level": null,
          "aa_start": 632,
          "aa_end": null,
          "aa_length": 729,
          "cds_start": 1894,
          "cds_end": null,
          "cds_length": 2190,
          "cdna_start": 2220,
          "cdna_end": null,
          "cdna_length": 6022,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1786C>A",
          "hgvs_p": "p.Arg596Arg",
          "transcript": "XM_047425310.1",
          "protein_id": "XP_047281266.1",
          "transcript_support_level": null,
          "aa_start": 596,
          "aa_end": null,
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          "cds_start": 1786,
          "cds_end": null,
          "cds_length": 2082,
          "cdna_start": 2258,
          "cdna_end": null,
          "cdna_length": 6060,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1783C>A",
          "hgvs_p": "p.Arg595Arg",
          "transcript": "XM_047425311.1",
          "protein_id": "XP_047281267.1",
          "transcript_support_level": null,
          "aa_start": 595,
          "aa_end": null,
          "aa_length": 692,
          "cds_start": 1783,
          "cds_end": null,
          "cds_length": 2079,
          "cdna_start": 2255,
          "cdna_end": null,
          "cdna_length": 6057,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WAC",
          "gene_hgnc_id": 17327,
          "hgvs_c": "c.1666C>A",
          "hgvs_p": "p.Arg556Arg",
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      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": 6.8414e-7,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 1,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.12999999523162842,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.05000000074505806,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.13,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 4.251,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0.05,
      "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": 1,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4",
      "acmg_by_gene": [
        {
          "score": 1,
          "benign_score": 1,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000354911.9",
          "gene_symbol": "WAC",
          "hgnc_id": 17327,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.1648C>A",
          "hgvs_p": "p.Arg550Arg"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}