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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: 6-35574699-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=35574699&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 35574699,
      "ref": "C",
      "alt": "T",
      "effect": "3_prime_UTR_variant",
      "transcript": "NM_004117.4",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKBP5",
          "gene_hgnc_id": 3721,
          "hgvs_c": "c.*1136G>A",
          "hgvs_p": null,
          "transcript": "NM_004117.4",
          "protein_id": "NP_004108.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 457,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1374,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000357266.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_004117.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKBP5",
          "gene_hgnc_id": 3721,
          "hgvs_c": "c.*1136G>A",
          "hgvs_p": null,
          "transcript": "ENST00000357266.9",
          "protein_id": "ENSP00000349811.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 457,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1374,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_004117.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000357266.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKBP5",
          "gene_hgnc_id": 3721,
          "hgvs_c": "c.*1136G>A",
          "hgvs_p": null,
          "transcript": "ENST00000536438.5",
          "protein_id": "ENSP00000444810.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 457,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1374,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000536438.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKBP5",
          "gene_hgnc_id": 3721,
          "hgvs_c": "c.*1136G>A",
          "hgvs_p": null,
          "transcript": "ENST00000539068.5",
          "protein_id": "ENSP00000441205.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 457,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1374,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000539068.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKBP5",
          "gene_hgnc_id": 3721,
          "hgvs_c": "c.*1136G>A",
          "hgvs_p": null,
          "transcript": "ENST00000956371.1",
          "protein_id": "ENSP00000626430.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 496,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1491,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000956371.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKBP5",
          "gene_hgnc_id": 3721,
          "hgvs_c": "c.*1136G>A",
          "hgvs_p": null,
          "transcript": "ENST00000893100.1",
          "protein_id": "ENSP00000563159.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 491,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1476,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893100.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKBP5",
          "gene_hgnc_id": 3721,
          "hgvs_c": "c.*1136G>A",
          "hgvs_p": null,
          "transcript": "ENST00000893136.1",
          "protein_id": "ENSP00000563196.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 491,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1476,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893136.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKBP5",
          "gene_hgnc_id": 3721,
          "hgvs_c": "c.*1136G>A",
          "hgvs_p": null,
          "transcript": "NM_001145775.3",
          "protein_id": "NP_001139247.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 457,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1374,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001145775.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKBP5",
          "gene_hgnc_id": 3721,
          "hgvs_c": "c.*1136G>A",
          "hgvs_p": null,
          "transcript": "NM_001145776.2",
          "protein_id": "NP_001139248.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 457,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1374,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001145776.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKBP5",
          "gene_hgnc_id": 3721,
          "hgvs_c": "c.*1136G>A",
          "hgvs_p": null,
          "transcript": "ENST00000893094.1",
          "protein_id": "ENSP00000563153.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 457,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1374,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893094.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
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          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKBP5",
          "gene_hgnc_id": 3721,
          "hgvs_c": "c.*1136G>A",
          "hgvs_p": null,
          "transcript": "ENST00000893096.1",
          "protein_id": "ENSP00000563155.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 457,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1374,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893096.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKBP5",
          "gene_hgnc_id": 3721,
          "hgvs_c": "c.*1136G>A",
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          "transcript": "ENST00000893098.1",
          "protein_id": "ENSP00000563157.1",
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          "aa_start": null,
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          "aa_length": 457,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "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,
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          "consequences": [
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          ],
          "exon_rank": 14,
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          "exon_count": 14,
          "intron_rank": null,
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          "gene_symbol": "FKBP5",
          "gene_hgnc_id": 3721,
          "hgvs_c": "c.*1136G>A",
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          "transcript": "ENST00000893099.1",
          "protein_id": "ENSP00000563158.1",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
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          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKBP5",
          "gene_hgnc_id": 3721,
          "hgvs_c": "c.*1136G>A",
          "hgvs_p": null,
          "transcript": "ENST00000893101.1",
          "protein_id": "ENSP00000563160.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 457,
          "cds_start": null,
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          "cdna_start": null,
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        {
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          "gene_symbol": "FKBP5",
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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,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKBP5",
          "gene_hgnc_id": 3721,
          "hgvs_c": "c.*1136G>A",
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          "transcript": "ENST00000893105.1",
          "protein_id": "ENSP00000563164.1",
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        {
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          ],
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          "exon_count": 12,
          "intron_rank": null,
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          "gene_symbol": "FKBP5",
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          "exon_count": 12,
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        {
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          ],
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          "intron_rank": null,
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        {
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          "protein_coding": true,
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          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "FKBP5",
          "gene_hgnc_id": 3721,
          "hgvs_c": "c.*1136G>A",
          "hgvs_p": null,
          "transcript": "ENST00000893109.1",
          "protein_id": "ENSP00000563168.1",
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          "cdna_length": null,
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        },
        {
          "aa_ref": null,
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          "consequences": [
            "3_prime_UTR_variant"
          ],
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        {
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      "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": -0.8399999737739563,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "alphamissense_score": null,
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      "bayesdelnoaf_score": -0.84,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.222,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
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      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
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          "pathogenic_score": 2,
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            "BP4_Strong"
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          "verdict": "Likely_benign",
          "transcript": "NM_004117.4",
          "gene_symbol": "FKBP5",
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          "effects": [
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          "inheritance_mode": "",
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        {
          "score": -2,
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          "pathogenic_score": 2,
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            "BP4_Strong"
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          "verdict": "Likely_benign",
          "transcript": "ENST00000722031.1",
          "gene_symbol": "LINC03135",
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          "effects": [
            "intron_variant"
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          "inheritance_mode": "",
          "hgvs_c": "n.104-18331C>T",
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      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}