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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: 16-23607989-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=23607989&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 23607989,
      "ref": "A",
      "alt": "G",
      "effect": "synonymous_variant",
      "transcript": "ENST00000261584.9",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.3225T>C",
          "hgvs_p": "p.Ser1075Ser",
          "transcript": "NM_024675.4",
          "protein_id": "NP_078951.2",
          "transcript_support_level": null,
          "aa_start": 1075,
          "aa_end": null,
          "aa_length": 1186,
          "cds_start": 3225,
          "cds_end": null,
          "cds_length": 3561,
          "cdna_start": 3378,
          "cdna_end": null,
          "cdna_length": 4008,
          "mane_select": "ENST00000261584.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.3225T>C",
          "hgvs_p": "p.Ser1075Ser",
          "transcript": "ENST00000261584.9",
          "protein_id": "ENSP00000261584.4",
          "transcript_support_level": 1,
          "aa_start": 1075,
          "aa_end": null,
          "aa_length": 1186,
          "cds_start": 3225,
          "cds_end": null,
          "cds_length": 3561,
          "cdna_start": 3378,
          "cdna_end": null,
          "cdna_length": 4008,
          "mane_select": "NM_024675.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2340T>C",
          "hgvs_p": "p.Ser780Ser",
          "transcript": "ENST00000568219.5",
          "protein_id": "ENSP00000454703.2",
          "transcript_support_level": 1,
          "aa_start": 780,
          "aa_end": null,
          "aa_length": 891,
          "cds_start": 2340,
          "cds_end": null,
          "cds_length": 2676,
          "cdna_start": 3336,
          "cdna_end": null,
          "cdna_length": 3963,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.3231T>C",
          "hgvs_p": "p.Ser1077Ser",
          "transcript": "ENST00000561514.3",
          "protein_id": "ENSP00000460666.3",
          "transcript_support_level": 5,
          "aa_start": 1077,
          "aa_end": null,
          "aa_length": 1188,
          "cds_start": 3231,
          "cds_end": null,
          "cds_length": 3567,
          "cdna_start": 4230,
          "cdna_end": null,
          "cdna_length": 4825,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.3231T>C",
          "hgvs_p": "p.Ser1077Ser",
          "transcript": "ENST00000697379.2",
          "protein_id": "ENSP00000513287.2",
          "transcript_support_level": null,
          "aa_start": 1077,
          "aa_end": null,
          "aa_length": 1188,
          "cds_start": 3231,
          "cds_end": null,
          "cds_length": 3567,
          "cdna_start": 3530,
          "cdna_end": null,
          "cdna_length": 4125,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.3165T>C",
          "hgvs_p": "p.Ser1055Ser",
          "transcript": "NM_001407296.1",
          "protein_id": "NP_001394225.1",
          "transcript_support_level": null,
          "aa_start": 1055,
          "aa_end": null,
          "aa_length": 1166,
          "cds_start": 3165,
          "cds_end": null,
          "cds_length": 3501,
          "cdna_start": 3318,
          "cdna_end": null,
          "cdna_length": 3948,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.3153T>C",
          "hgvs_p": "p.Ser1051Ser",
          "transcript": "NM_001407297.1",
          "protein_id": "NP_001394226.1",
          "transcript_support_level": null,
          "aa_start": 1051,
          "aa_end": null,
          "aa_length": 1162,
          "cds_start": 3153,
          "cds_end": null,
          "cds_length": 3489,
          "cdna_start": 3306,
          "cdna_end": null,
          "cdna_length": 3936,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.3069T>C",
          "hgvs_p": "p.Ser1023Ser",
          "transcript": "ENST00000697377.2",
          "protein_id": "ENSP00000513286.2",
          "transcript_support_level": null,
          "aa_start": 1023,
          "aa_end": null,
          "aa_length": 1134,
          "cds_start": 3069,
          "cds_end": null,
          "cds_length": 3405,
          "cdna_start": 3462,
          "cdna_end": null,
          "cdna_length": 4058,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.3063T>C",
          "hgvs_p": "p.Ser1021Ser",
          "transcript": "NM_001407298.1",
          "protein_id": "NP_001394227.1",
          "transcript_support_level": null,
          "aa_start": 1021,
          "aa_end": null,
          "aa_length": 1132,
          "cds_start": 3063,
          "cds_end": null,
          "cds_length": 3399,
          "cdna_start": 3216,
          "cdna_end": null,
          "cdna_length": 3846,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2946T>C",
          "hgvs_p": "p.Ser982Ser",
          "transcript": "NM_001407300.1",
          "protein_id": "NP_001394229.1",
          "transcript_support_level": null,
          "aa_start": 982,
          "aa_end": null,
          "aa_length": 1093,
          "cds_start": 2946,
          "cds_end": null,
          "cds_length": 3282,
          "cdna_start": 3099,
          "cdna_end": null,
          "cdna_length": 3729,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2340T>C",
          "hgvs_p": "p.Ser780Ser",
          "transcript": "NM_001407304.1",
          "protein_id": "NP_001394233.1",
          "transcript_support_level": null,
          "aa_start": 780,
          "aa_end": null,
          "aa_length": 891,
          "cds_start": 2340,
          "cds_end": null,
          "cds_length": 2676,
          "cdna_start": 4236,
          "cdna_end": null,
          "cdna_length": 4866,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2340T>C",
          "hgvs_p": "p.Ser780Ser",
          "transcript": "NM_001407305.1",
          "protein_id": "NP_001394234.1",
          "transcript_support_level": null,
          "aa_start": 780,
          "aa_end": null,
          "aa_length": 891,
          "cds_start": 2340,
          "cds_end": null,
          "cds_length": 2676,
          "cdna_start": 3512,
          "cdna_end": null,
          "cdna_length": 4142,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2340T>C",
          "hgvs_p": "p.Ser780Ser",
          "transcript": "NM_001407306.1",
          "protein_id": "NP_001394235.1",
          "transcript_support_level": null,
          "aa_start": 780,
          "aa_end": null,
          "aa_length": 891,
          "cds_start": 2340,
          "cds_end": null,
          "cds_length": 2676,
          "cdna_start": 3361,
          "cdna_end": null,
          "cdna_length": 3991,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2340T>C",
          "hgvs_p": "p.Ser780Ser",
          "transcript": "ENST00000697374.1",
          "protein_id": "ENSP00000513284.1",
          "transcript_support_level": null,
          "aa_start": 780,
          "aa_end": null,
          "aa_length": 891,
          "cds_start": 2340,
          "cds_end": null,
          "cds_length": 2676,
          "cdna_start": 3748,
          "cdna_end": null,
          "cdna_length": 4361,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.2178T>C",
          "hgvs_p": "p.Ser726Ser",
          "transcript": "NM_001407307.1",
          "protein_id": "NP_001394236.1",
          "transcript_support_level": null,
          "aa_start": 726,
          "aa_end": null,
          "aa_length": 837,
          "cds_start": 2178,
          "cds_end": null,
          "cds_length": 2514,
          "cdna_start": 3350,
          "cdna_end": null,
          "cdna_length": 3980,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.1437T>C",
          "hgvs_p": "p.Ser479Ser",
          "transcript": "NM_001407312.1",
          "protein_id": "NP_001394241.1",
          "transcript_support_level": null,
          "aa_start": 479,
          "aa_end": null,
          "aa_length": 590,
          "cds_start": 1437,
          "cds_end": null,
          "cds_length": 1773,
          "cdna_start": 1742,
          "cdna_end": null,
          "cdna_length": 2372,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.759T>C",
          "hgvs_p": "p.Ser253Ser",
          "transcript": "NM_001407314.1",
          "protein_id": "NP_001394243.1",
          "transcript_support_level": null,
          "aa_start": 253,
          "aa_end": null,
          "aa_length": 364,
          "cds_start": 759,
          "cds_end": null,
          "cds_length": 1095,
          "cdna_start": 912,
          "cdna_end": null,
          "cdna_length": 1542,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "c.759T>C",
          "hgvs_p": "p.Ser253Ser",
          "transcript": "ENST00000697383.1",
          "protein_id": "ENSP00000513289.1",
          "transcript_support_level": null,
          "aa_start": 253,
          "aa_end": null,
          "aa_length": 364,
          "cds_start": 759,
          "cds_end": null,
          "cds_length": 1095,
          "cdna_start": 923,
          "cdna_end": null,
          "cdna_length": 1412,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "n.*706T>C",
          "hgvs_p": null,
          "transcript": "ENST00000565038.2",
          "protein_id": "ENSP00000459882.2",
          "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": 1630,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALB2",
          "gene_hgnc_id": 26144,
          "hgvs_c": "n.4572T>C",
          "hgvs_p": null,
          "transcript": "ENST00000697375.1",
          "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": 5177,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
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      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.5199999809265137,
      "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": -0.52,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.589,
      "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": -5,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
      "acmg_by_gene": [
        {
          "score": -5,
          "benign_score": 7,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP6_Moderate",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000261584.9",
          "gene_symbol": "PALB2",
          "hgnc_id": 26144,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR,AD",
          "hgvs_c": "c.3225T>C",
          "hgvs_p": "p.Ser1075Ser"
        },
        {
          "score": -4,
          "benign_score": 6,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP6_Moderate"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000561764.1",
          "gene_symbol": "ENSG00000261723",
          "hgnc_id": 58305,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.185+606A>G",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}