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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: 9-69252865-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=69252865&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
  "variants": [
    {
      "chr": "9",
      "pos": 69252865,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "ENST00000377245.9",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.3372G>A",
          "hgvs_p": "p.Thr1124Thr",
          "transcript": "NM_004817.4",
          "protein_id": "NP_004808.2",
          "transcript_support_level": null,
          "aa_start": 1124,
          "aa_end": null,
          "aa_length": 1190,
          "cds_start": 3372,
          "cds_end": null,
          "cds_length": 3573,
          "cdna_start": 3468,
          "cdna_end": null,
          "cdna_length": 4503,
          "mane_select": "ENST00000377245.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.3372G>A",
          "hgvs_p": "p.Thr1124Thr",
          "transcript": "ENST00000377245.9",
          "protein_id": "ENSP00000366453.4",
          "transcript_support_level": 1,
          "aa_start": 1124,
          "aa_end": null,
          "aa_length": 1190,
          "cds_start": 3372,
          "cds_end": null,
          "cds_length": 3573,
          "cdna_start": 3468,
          "cdna_end": null,
          "cdna_length": 4503,
          "mane_select": "NM_004817.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000285130",
          "gene_hgnc_id": null,
          "hgvs_c": "c.3759G>A",
          "hgvs_p": "p.Thr1253Thr",
          "transcript": "ENST00000642889.1",
          "protein_id": "ENSP00000493780.1",
          "transcript_support_level": null,
          "aa_start": 1253,
          "aa_end": null,
          "aa_length": 1319,
          "cds_start": 3759,
          "cds_end": null,
          "cds_length": 3960,
          "cdna_start": 3792,
          "cdna_end": null,
          "cdna_length": 4806,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.2931G>A",
          "hgvs_p": "p.Thr977Thr",
          "transcript": "ENST00000348208.9",
          "protein_id": "ENSP00000345893.4",
          "transcript_support_level": 1,
          "aa_start": 977,
          "aa_end": null,
          "aa_length": 1043,
          "cds_start": 2931,
          "cds_end": null,
          "cds_length": 3132,
          "cdna_start": 3027,
          "cdna_end": null,
          "cdna_length": 4055,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.3549G>A",
          "hgvs_p": "p.Thr1183Thr",
          "transcript": "ENST00000636438.1",
          "protein_id": "ENSP00000489860.1",
          "transcript_support_level": 5,
          "aa_start": 1183,
          "aa_end": null,
          "aa_length": 1249,
          "cds_start": 3549,
          "cds_end": null,
          "cds_length": 3750,
          "cdna_start": 3663,
          "cdna_end": null,
          "cdna_length": 4689,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.3465G>A",
          "hgvs_p": "p.Thr1155Thr",
          "transcript": "NM_001170416.2",
          "protein_id": "NP_001163887.1",
          "transcript_support_level": null,
          "aa_start": 1155,
          "aa_end": null,
          "aa_length": 1221,
          "cds_start": 3465,
          "cds_end": null,
          "cds_length": 3666,
          "cdna_start": 3472,
          "cdna_end": null,
          "cdna_length": 4503,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.3465G>A",
          "hgvs_p": "p.Thr1155Thr",
          "transcript": "ENST00000539225.2",
          "protein_id": "ENSP00000438262.1",
          "transcript_support_level": 2,
          "aa_start": 1155,
          "aa_end": null,
          "aa_length": 1221,
          "cds_start": 3465,
          "cds_end": null,
          "cds_length": 3666,
          "cdna_start": 3465,
          "cdna_end": null,
          "cdna_length": 3838,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.3384G>A",
          "hgvs_p": "p.Thr1128Thr",
          "transcript": "NM_001369875.1",
          "protein_id": "NP_001356804.1",
          "transcript_support_level": null,
          "aa_start": 1128,
          "aa_end": null,
          "aa_length": 1194,
          "cds_start": 3384,
          "cds_end": null,
          "cds_length": 3585,
          "cdna_start": 3391,
          "cdna_end": null,
          "cdna_length": 4422,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.3375G>A",
          "hgvs_p": "p.Thr1125Thr",
          "transcript": "ENST00000650084.1",
          "protein_id": "ENSP00000497861.1",
          "transcript_support_level": null,
          "aa_start": 1125,
          "aa_end": null,
          "aa_length": 1191,
          "cds_start": 3375,
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          "cds_length": 3576,
          "cdna_start": 3375,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
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          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.3303G>A",
          "hgvs_p": "p.Thr1101Thr",
          "transcript": "NM_001369871.1",
          "protein_id": "NP_001356800.1",
          "transcript_support_level": null,
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          "cds_start": 3303,
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        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          "exon_rank": 23,
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          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.3297G>A",
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          "transcript": "NM_001369870.1",
          "protein_id": "NP_001356799.1",
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        },
        {
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          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          "exon_rank": 21,
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          "intron_rank": null,
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          "gene_symbol": "TJP2",
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          "hgvs_c": "c.3273G>A",
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          "transcript": "NM_001170415.1",
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        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "gene_symbol": "TJP2",
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          "hgvs_c": "c.3273G>A",
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          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
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          "intron_rank": null,
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          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.3261G>A",
          "hgvs_p": "p.Thr1087Thr",
          "transcript": "NM_001369872.1",
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        },
        {
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          "gene_symbol": "TJP2",
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          "hgvs_c": "c.3303G>A",
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        },
        {
          "aa_ref": "T",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 21,
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          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.3261G>A",
          "hgvs_p": "p.Thr1087Thr",
          "transcript": "ENST00000649943.1",
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        },
        {
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          "aa_alt": "T",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 20,
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          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "TJP2",
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          "hgvs_c": "c.3048G>A",
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        {
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          "consequences": [
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          "intron_rank": null,
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          "gene_symbol": "TJP2",
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          "hgvs_c": "c.2943G>A",
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        },
        {
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          ],
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
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          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.2931G>A",
          "hgvs_p": "p.Thr977Thr",
          "transcript": "NM_201629.3",
          "protein_id": "NP_963923.1",
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          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
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      "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": -0.84,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.322,
      "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": -6,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP4_Strong,BP6,BP7",
      "acmg_by_gene": [
        {
          "score": -6,
          "benign_score": 6,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000377245.9",
          "gene_symbol": "TJP2",
          "hgnc_id": 11828,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD,Unknown,AR",
          "hgvs_c": "c.3372G>A",
          "hgvs_p": "p.Thr1124Thr"
        },
        {
          "score": -6,
          "benign_score": 6,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000642889.1",
          "gene_symbol": "ENSG00000285130",
          "hgnc_id": null,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.3759G>A",
          "hgvs_p": "p.Thr1253Thr"
        }
      ],
      "clinvar_disease": "not provided,not specified",
      "clinvar_classification": "Conflicting classifications of pathogenicity",
      "clinvar_review_status": "criteria provided, conflicting classifications",
      "clinvar_submissions_summary": "US:1 LB:3",
      "phenotype_combined": "not specified|not provided",
      "pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
      "custom_annotations": null
    }
  ],
  "message": null
}