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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: 8-29027953-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=29027953&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "8",
      "pos": 29027953,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000287701.15",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "HMBOX1",
          "gene_hgnc_id": 26137,
          "hgvs_c": "c.851+9040T>C",
          "hgvs_p": null,
          "transcript": "NM_001135726.3",
          "protein_id": "NP_001129198.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 420,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1263,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3711,
          "mane_select": "ENST00000287701.15",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "HMBOX1",
          "gene_hgnc_id": 26137,
          "hgvs_c": "c.851+9040T>C",
          "hgvs_p": null,
          "transcript": "ENST00000287701.15",
          "protein_id": "ENSP00000287701.10",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 420,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1263,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3711,
          "mane_select": "NM_001135726.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "HMBOX1",
          "gene_hgnc_id": 26137,
          "hgvs_c": "c.851+9040T>C",
          "hgvs_p": null,
          "transcript": "ENST00000397358.7",
          "protein_id": "ENSP00000380516.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 420,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1263,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4082,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "HMBOX1",
          "gene_hgnc_id": 26137,
          "hgvs_c": "c.851+9040T>C",
          "hgvs_p": null,
          "transcript": "ENST00000523613.5",
          "protein_id": "ENSP00000452827.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 396,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1191,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1730,
          "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": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOC105379346",
          "gene_hgnc_id": null,
          "hgvs_c": "n.10307A>G",
          "hgvs_p": null,
          "transcript": "XR_007060871.1",
          "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": 19347,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "HMBOX1",
          "gene_hgnc_id": 26137,
          "hgvs_c": "c.851+9040T>C",
          "hgvs_p": null,
          "transcript": "NM_001324383.2",
          "protein_id": "NP_001311312.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 444,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1335,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3783,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "HMBOX1",
          "gene_hgnc_id": 26137,
          "hgvs_c": "c.851+9040T>C",
          "hgvs_p": null,
          "transcript": "NM_001324384.1",
          "protein_id": "NP_001311313.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 444,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1335,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3819,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "HMBOX1",
          "gene_hgnc_id": 26137,
          "hgvs_c": "c.851+9040T>C",
          "hgvs_p": null,
          "transcript": "NM_001330498.2",
          "protein_id": "NP_001317427.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 443,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1332,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3780,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "HMBOX1",
          "gene_hgnc_id": 26137,
          "hgvs_c": "c.851+9040T>C",
          "hgvs_p": null,
          "transcript": "ENST00000524238.3",
          "protein_id": "ENSP00000430110.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 443,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1332,
          "cdna_start": null,
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          "cdna_length": 1731,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "HMBOX1",
          "gene_hgnc_id": 26137,
          "hgvs_c": "c.851+9040T>C",
          "hgvs_p": null,
          "transcript": "NM_001324385.2",
          "protein_id": "NP_001311314.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 442,
          "cds_start": -4,
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          "cds_length": 1329,
          "cdna_start": null,
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          "cdna_length": 3777,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
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        {
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          "canonical": false,
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          "consequences": [
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          "intron_rank": 6,
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          "gene_symbol": "HMBOX1",
          "gene_hgnc_id": 26137,
          "hgvs_c": "c.851+9040T>C",
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          "transcript": "NM_001324382.2",
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          "transcript_support_level": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": true,
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          "exon_count": 11,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "HMBOX1",
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          "hgvs_c": "c.851+9040T>C",
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          "transcript": "NM_024567.4",
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        {
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          "gene_symbol": "HMBOX1",
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          "gene_symbol": "HMBOX1",
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          "hgvs_c": "c.851+9040T>C",
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        {
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          "intron_rank": 6,
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          "gene_symbol": "HMBOX1",
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          "hgvs_c": "c.851+9040T>C",
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          "transcript": "NM_001324390.1",
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        {
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          "gene_symbol": "HMBOX1",
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          "gene_symbol": "HMBOX1",
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        {
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          ],
          "exon_rank": null,
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          "exon_count": 12,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "HMBOX1",
          "gene_hgnc_id": 26137,
          "hgvs_c": "c.851+9040T>C",
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          "transcript": "NM_001324393.2",
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          "protein_id": "XP_047278185.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 304,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 915,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3620,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "LOC105379346",
          "gene_hgnc_id": null,
          "hgvs_c": "n.7247+3173A>G",
          "hgvs_p": null,
          "transcript": "XR_001745858.2",
          "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": 7335,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "HMBOX1",
      "gene_hgnc_id": 26137,
      "dbsnp": "rs10503836",
      "frequency_reference_population": 0.43028992,
      "hom_count_reference_population": 15450,
      "allele_count_reference_population": 65423,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.43029,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 65423,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 15450,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.5699999928474426,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.57,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 2.803,
      "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": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000287701.15",
          "gene_symbol": "HMBOX1",
          "hgnc_id": 26137,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.851+9040T>C",
          "hgvs_p": null
        },
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "XR_007060871.1",
          "gene_symbol": "LOC105379346",
          "hgnc_id": null,
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.10307A>G",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}