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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: 11-11964657-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=11964657&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 11964657,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_001330220.3",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.860C>T",
          "hgvs_p": "p.Thr287Ile",
          "transcript": "NM_001018057.2",
          "protein_id": "NP_001018067.1",
          "transcript_support_level": null,
          "aa_start": 287,
          "aa_end": null,
          "aa_length": 350,
          "cds_start": 860,
          "cds_end": null,
          "cds_length": 1053,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000683431.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001018057.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.860C>T",
          "hgvs_p": "p.Thr287Ile",
          "transcript": "ENST00000683431.1",
          "protein_id": "ENSP00000506835.1",
          "transcript_support_level": null,
          "aa_start": 287,
          "aa_end": null,
          "aa_length": 350,
          "cds_start": 860,
          "cds_end": null,
          "cds_length": 1053,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001018057.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000683431.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.860C>T",
          "hgvs_p": "p.Thr287Ile",
          "transcript": "ENST00000326932.8",
          "protein_id": "ENSP00000314910.4",
          "transcript_support_level": 1,
          "aa_start": 287,
          "aa_end": null,
          "aa_length": 350,
          "cds_start": 860,
          "cds_end": null,
          "cds_length": 1053,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000326932.8"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.860C>T",
          "hgvs_p": "p.Thr287Ile",
          "transcript": "ENST00000396505.7",
          "protein_id": "ENSP00000379762.2",
          "transcript_support_level": 1,
          "aa_start": 287,
          "aa_end": null,
          "aa_length": 350,
          "cds_start": 860,
          "cds_end": null,
          "cds_length": 1053,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000396505.7"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.1109C>T",
          "hgvs_p": "p.Thr370Ile",
          "transcript": "ENST00000903527.1",
          "protein_id": "ENSP00000573586.1",
          "transcript_support_level": null,
          "aa_start": 370,
          "aa_end": null,
          "aa_length": 433,
          "cds_start": 1109,
          "cds_end": null,
          "cds_length": 1302,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903527.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.1109C>T",
          "hgvs_p": "p.Thr370Ile",
          "transcript": "ENST00000958801.1",
          "protein_id": "ENSP00000628860.1",
          "transcript_support_level": null,
          "aa_start": 370,
          "aa_end": null,
          "aa_length": 433,
          "cds_start": 1109,
          "cds_end": null,
          "cds_length": 1302,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000958801.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.1031C>T",
          "hgvs_p": "p.Thr344Ile",
          "transcript": "ENST00000958821.1",
          "protein_id": "ENSP00000628880.1",
          "transcript_support_level": null,
          "aa_start": 344,
          "aa_end": null,
          "aa_length": 407,
          "cds_start": 1031,
          "cds_end": null,
          "cds_length": 1224,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000958821.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.1028C>T",
          "hgvs_p": "p.Thr343Ile",
          "transcript": "ENST00000903519.1",
          "protein_id": "ENSP00000573578.1",
          "transcript_support_level": null,
          "aa_start": 343,
          "aa_end": null,
          "aa_length": 406,
          "cds_start": 1028,
          "cds_end": null,
          "cds_length": 1221,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903519.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.1028C>T",
          "hgvs_p": "p.Thr343Ile",
          "transcript": "ENST00000958809.1",
          "protein_id": "ENSP00000628868.1",
          "transcript_support_level": null,
          "aa_start": 343,
          "aa_end": null,
          "aa_length": 406,
          "cds_start": 1028,
          "cds_end": null,
          "cds_length": 1221,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000958809.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
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          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.1028C>T",
          "hgvs_p": "p.Thr343Ile",
          "transcript": "ENST00000958813.1",
          "protein_id": "ENSP00000628872.1",
          "transcript_support_level": null,
          "aa_start": 343,
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          "cds_start": 1028,
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        {
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          "strand": false,
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          ],
          "exon_rank": 8,
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          "exon_count": 8,
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          "gene_symbol": "DKK3",
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          "hgvs_c": "c.1028C>T",
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          "transcript": "ENST00000958819.1",
          "protein_id": "ENSP00000628878.1",
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          "cds_start": 1028,
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          "cdna_start": null,
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        {
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          "strand": false,
          "consequences": [
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          "intron_rank": null,
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          "hgvs_c": "c.941C>T",
          "hgvs_p": "p.Thr314Ile",
          "transcript": "ENST00000958798.1",
          "protein_id": "ENSP00000628857.1",
          "transcript_support_level": null,
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          "cds_start": 941,
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        {
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          "strand": false,
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          ],
          "exon_rank": 9,
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          "gene_symbol": "DKK3",
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        {
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          "strand": false,
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          ],
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          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.941C>T",
          "hgvs_p": "p.Thr314Ile",
          "transcript": "ENST00000958815.1",
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        {
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        {
          "aa_ref": "T",
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          "intron_rank": null,
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          "gene_symbol": "DKK3",
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          "hgvs_c": "c.926C>T",
          "hgvs_p": "p.Thr309Ile",
          "transcript": "ENST00000958802.1",
          "protein_id": "ENSP00000628861.1",
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        {
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          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
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        {
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          "hgvs_c": "c.923C>T",
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        {
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          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.902C>T",
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          "transcript": "NM_001330220.3",
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001330220.3"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "c.902C>T",
          "hgvs_p": "p.Thr301Ile",
          "transcript": "ENST00000525493.5",
          "protein_id": "ENSP00000433112.1",
          "transcript_support_level": 2,
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          "transcript_support_level": null,
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          "aa_length": 72,
          "cds_start": null,
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          "cds_length": 219,
          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000958810.1"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
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          "exon_count": 3,
          "intron_rank": 2,
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          "hgvs_c": "c.214-188C>T",
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          "transcript": "ENST00000958811.1",
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          "aa_start": null,
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          "aa_length": 72,
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          "cds_length": 219,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000958811.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
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          "exon_count": 5,
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          "gene_symbol": "DKK3",
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          "hgvs_c": "n.524C>T",
          "hgvs_p": null,
          "transcript": "ENST00000528188.5",
          "protein_id": null,
          "transcript_support_level": 4,
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          "cdna_start": null,
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          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000528188.5"
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
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          "exon_count": 2,
          "intron_rank": 1,
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          "gene_symbol": "DKK3",
          "gene_hgnc_id": 2893,
          "hgvs_c": "n.262-188C>T",
          "hgvs_p": null,
          "transcript": "ENST00000527132.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
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          "aa_length": null,
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          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000527132.1"
        }
      ],
      "gene_symbol": "DKK3",
      "gene_hgnc_id": 2893,
      "dbsnp": "rs532056198",
      "frequency_reference_population": 0.00003531441,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 57,
      "gnomad_exomes_af": 0.0000287324,
      "gnomad_genomes_af": 0.0000984834,
      "gnomad_exomes_ac": 42,
      "gnomad_genomes_ac": 15,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.05210000276565552,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.056,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.1382,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.58,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 3.11,
      "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": -4,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -4,
          "benign_score": 4,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001330220.3",
          "gene_symbol": "DKK3",
          "hgnc_id": 2893,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.902C>T",
          "hgvs_p": "p.Thr301Ile"
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}
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