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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: 2-144517420-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=144517420&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 144517420,
      "ref": "C",
      "alt": "T",
      "effect": "splice_acceptor_variant,intron_variant",
      "transcript": "NM_014795.4",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZEB2",
          "gene_hgnc_id": 14881,
          "hgvs_c": "c.-70G>A",
          "hgvs_p": null,
          "transcript": "ENST00000558170.6",
          "protein_id": "ENSP00000454157.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1214,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3645,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000558170.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZEB2",
          "gene_hgnc_id": 14881,
          "hgvs_c": "c.-69-1G>A",
          "hgvs_p": null,
          "transcript": "NM_014795.4",
          "protein_id": "NP_055610.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1214,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3645,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000627532.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_014795.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZEB2",
          "gene_hgnc_id": 14881,
          "hgvs_c": "c.-69-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000627532.3",
          "protein_id": "ENSP00000487174.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1214,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3645,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_014795.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000627532.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZEB2",
          "gene_hgnc_id": 14881,
          "hgvs_c": "c.-69-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000303660.8",
          "protein_id": "ENSP00000302501.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1213,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3642,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000303660.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZEB2",
          "gene_hgnc_id": 14881,
          "hgvs_c": "c.19-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000427902.5",
          "protein_id": "ENSP00000395496.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 730,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2194,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000427902.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZEB2",
          "gene_hgnc_id": 14881,
          "hgvs_c": "c.16-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000392861.6",
          "protein_id": "ENSP00000376601.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 466,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1401,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000392861.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZEB2",
          "gene_hgnc_id": 14881,
          "hgvs_c": "c.19-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000470879.5",
          "protein_id": "ENSP00000475329.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 87,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 264,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000470879.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZEB2",
          "gene_hgnc_id": 14881,
          "hgvs_c": "n.182-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000472146.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000472146.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZEB2",
          "gene_hgnc_id": 14881,
          "hgvs_c": "n.-69-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000484313.3",
          "protein_id": "ENSP00000486341.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000484313.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZEB2",
          "gene_hgnc_id": 14881,
          "hgvs_c": "c.-70G>A",
          "hgvs_p": null,
          "transcript": "ENST00000431672.4",
          "protein_id": "ENSP00000475267.2",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 183,
          "cds_start": null,
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          "cds_length": 553,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZEB2",
          "gene_hgnc_id": 14881,
          "hgvs_c": "c.-69-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000636471.1",
          "protein_id": "ENSP00000490317.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1239,
          "cds_start": null,
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          "cds_length": 3720,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 10,
          "intron_rank": 1,
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          "gene_symbol": "ZEB2",
          "gene_hgnc_id": 14881,
          "hgvs_c": "c.-69-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000409487.7",
          "protein_id": "ENSP00000386854.2",
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          "cds_start": null,
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          "cdna_start": null,
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        },
        {
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
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          "intron_rank": 1,
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          "gene_symbol": "ZEB2",
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          "hgvs_c": "c.-69-1G>A",
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          "protein_id": "ENSP00000556235.1",
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          "cds_start": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "consequences": [
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            "intron_variant"
          ],
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          "exon_count": 10,
          "intron_rank": 1,
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          "gene_symbol": "ZEB2",
          "gene_hgnc_id": 14881,
          "hgvs_c": "c.-69-1G>A",
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          "transcript": "ENST00000886177.1",
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          "gene_symbol": "ZEB2",
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          "protein_id": "ENSP00000556238.1",
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "consequences": [
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          ],
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          "exon_count": 10,
          "intron_rank": 1,
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          "gene_symbol": "ZEB2",
          "gene_hgnc_id": 14881,
          "hgvs_c": "c.-69-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000965901.1",
          "protein_id": "ENSP00000635960.1",
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        {
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            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 10,
          "intron_rank": 1,
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          "gene_symbol": "ZEB2",
          "gene_hgnc_id": 14881,
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          "gene_symbol": "ZEB2",
          "gene_hgnc_id": 14881,
          "hgvs_c": "c.-69-1G>A",
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        {
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          "consequences": [
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          "gene_symbol": "ZEB2",
          "gene_hgnc_id": 14881,
          "hgvs_c": "c.-69-1G>A",
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001171653.2"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZEB2",
          "gene_hgnc_id": 14881,
          "hgvs_c": "c.-69-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000539609.7",
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          "transcript": "NR_033258.2",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "NR_033258.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZEB2",
          "gene_hgnc_id": 14881,
          "hgvs_c": "n.-1G>A",
          "hgvs_p": null,
          "transcript": "ENST00000637591.2",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000637591.2"
        }
      ],
      "gene_symbol": "ZEB2",
      "gene_hgnc_id": 14881,
      "dbsnp": "rs587776612",
      "frequency_reference_population": null,
      "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": 0.2199999988079071,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.9259999990463257,
      "splice_prediction_selected": "Pathogenic",
      "splice_source_selected": "dbscSNV1_RF",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.22,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 4.265,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0.96,
      "spliceai_max_prediction": "Pathogenic",
      "dbscsnv_ada_score": 0.999974067388592,
      "dbscsnv_ada_prediction": "Pathogenic",
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 10,
      "acmg_classification": "Pathogenic",
      "acmg_criteria": "PVS1,PM2",
      "acmg_by_gene": [
        {
          "score": 10,
          "benign_score": 0,
          "pathogenic_score": 10,
          "criteria": [
            "PVS1",
            "PM2"
          ],
          "verdict": "Pathogenic",
          "transcript": "NM_014795.4",
          "gene_symbol": "ZEB2",
          "hgnc_id": 14881,
          "effects": [
            "splice_acceptor_variant",
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.-69-1G>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Mowat-Wilson syndrome",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Mowat-Wilson syndrome",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}