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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: 9-69254296-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=69254296&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 69254296,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "ENST00000377245.9",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.3495G>A",
          "hgvs_p": "p.Glu1165Glu",
          "transcript": "NM_004817.4",
          "protein_id": "NP_004808.2",
          "transcript_support_level": null,
          "aa_start": 1165,
          "aa_end": null,
          "aa_length": 1190,
          "cds_start": 3495,
          "cds_end": null,
          "cds_length": 3573,
          "cdna_start": 3591,
          "cdna_end": null,
          "cdna_length": 4503,
          "mane_select": "ENST00000377245.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.3495G>A",
          "hgvs_p": "p.Glu1165Glu",
          "transcript": "ENST00000377245.9",
          "protein_id": "ENSP00000366453.4",
          "transcript_support_level": 1,
          "aa_start": 1165,
          "aa_end": null,
          "aa_length": 1190,
          "cds_start": 3495,
          "cds_end": null,
          "cds_length": 3573,
          "cdna_start": 3591,
          "cdna_end": null,
          "cdna_length": 4503,
          "mane_select": "NM_004817.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000285130",
          "gene_hgnc_id": null,
          "hgvs_c": "c.3882G>A",
          "hgvs_p": "p.Glu1294Glu",
          "transcript": "ENST00000642889.1",
          "protein_id": "ENSP00000493780.1",
          "transcript_support_level": null,
          "aa_start": 1294,
          "aa_end": null,
          "aa_length": 1319,
          "cds_start": 3882,
          "cds_end": null,
          "cds_length": 3960,
          "cdna_start": 3915,
          "cdna_end": null,
          "cdna_length": 4806,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.3054G>A",
          "hgvs_p": "p.Glu1018Glu",
          "transcript": "ENST00000348208.9",
          "protein_id": "ENSP00000345893.4",
          "transcript_support_level": 1,
          "aa_start": 1018,
          "aa_end": null,
          "aa_length": 1043,
          "cds_start": 3054,
          "cds_end": null,
          "cds_length": 3132,
          "cdna_start": 3150,
          "cdna_end": null,
          "cdna_length": 4055,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.3672G>A",
          "hgvs_p": "p.Glu1224Glu",
          "transcript": "ENST00000636438.1",
          "protein_id": "ENSP00000489860.1",
          "transcript_support_level": 5,
          "aa_start": 1224,
          "aa_end": null,
          "aa_length": 1249,
          "cds_start": 3672,
          "cds_end": null,
          "cds_length": 3750,
          "cdna_start": 3786,
          "cdna_end": null,
          "cdna_length": 4689,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.3588G>A",
          "hgvs_p": "p.Glu1196Glu",
          "transcript": "NM_001170416.2",
          "protein_id": "NP_001163887.1",
          "transcript_support_level": null,
          "aa_start": 1196,
          "aa_end": null,
          "aa_length": 1221,
          "cds_start": 3588,
          "cds_end": null,
          "cds_length": 3666,
          "cdna_start": 3595,
          "cdna_end": null,
          "cdna_length": 4503,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.3588G>A",
          "hgvs_p": "p.Glu1196Glu",
          "transcript": "ENST00000539225.2",
          "protein_id": "ENSP00000438262.1",
          "transcript_support_level": 2,
          "aa_start": 1196,
          "aa_end": null,
          "aa_length": 1221,
          "cds_start": 3588,
          "cds_end": null,
          "cds_length": 3666,
          "cdna_start": 3588,
          "cdna_end": null,
          "cdna_length": 3838,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.3507G>A",
          "hgvs_p": "p.Glu1169Glu",
          "transcript": "NM_001369875.1",
          "protein_id": "NP_001356804.1",
          "transcript_support_level": null,
          "aa_start": 1169,
          "aa_end": null,
          "aa_length": 1194,
          "cds_start": 3507,
          "cds_end": null,
          "cds_length": 3585,
          "cdna_start": 3514,
          "cdna_end": null,
          "cdna_length": 4422,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.3498G>A",
          "hgvs_p": "p.Glu1166Glu",
          "transcript": "ENST00000650084.1",
          "protein_id": "ENSP00000497861.1",
          "transcript_support_level": null,
          "aa_start": 1166,
          "aa_end": null,
          "aa_length": 1191,
          "cds_start": 3498,
          "cds_end": null,
          "cds_length": 3576,
          "cdna_start": 3498,
          "cdna_end": null,
          "cdna_length": 4389,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.3426G>A",
          "hgvs_p": "p.Glu1142Glu",
          "transcript": "NM_001369871.1",
          "protein_id": "NP_001356800.1",
          "transcript_support_level": null,
          "aa_start": 1142,
          "aa_end": null,
          "aa_length": 1167,
          "cds_start": 3426,
          "cds_end": null,
          "cds_length": 3504,
          "cdna_start": 3773,
          "cdna_end": null,
          "cdna_length": 4681,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.3420G>A",
          "hgvs_p": "p.Glu1140Glu",
          "transcript": "NM_001369870.1",
          "protein_id": "NP_001356799.1",
          "transcript_support_level": null,
          "aa_start": 1140,
          "aa_end": null,
          "aa_length": 1165,
          "cds_start": 3420,
          "cds_end": null,
          "cds_length": 3498,
          "cdna_start": 3777,
          "cdna_end": null,
          "cdna_length": 4685,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.3396G>A",
          "hgvs_p": "p.Glu1132Glu",
          "transcript": "NM_001170415.1",
          "protein_id": "NP_001163886.1",
          "transcript_support_level": null,
          "aa_start": 1132,
          "aa_end": null,
          "aa_length": 1157,
          "cds_start": 3396,
          "cds_end": null,
          "cds_length": 3474,
          "cdna_start": 3547,
          "cdna_end": null,
          "cdna_length": 4459,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.3396G>A",
          "hgvs_p": "p.Glu1132Glu",
          "transcript": "ENST00000535702.6",
          "protein_id": "ENSP00000442090.1",
          "transcript_support_level": 2,
          "aa_start": 1132,
          "aa_end": null,
          "aa_length": 1157,
          "cds_start": 3396,
          "cds_end": null,
          "cds_length": 3474,
          "cdna_start": 3760,
          "cdna_end": null,
          "cdna_length": 3984,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.3384G>A",
          "hgvs_p": "p.Glu1128Glu",
          "transcript": "NM_001369872.1",
          "protein_id": "NP_001356801.1",
          "transcript_support_level": null,
          "aa_start": 1128,
          "aa_end": null,
          "aa_length": 1153,
          "cds_start": 3384,
          "cds_end": null,
          "cds_length": 3462,
          "cdna_start": 3480,
          "cdna_end": null,
          "cdna_length": 4388,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.3171G>A",
          "hgvs_p": "p.Glu1057Glu",
          "transcript": "NM_001369873.1",
          "protein_id": "NP_001356802.1",
          "transcript_support_level": null,
          "aa_start": 1057,
          "aa_end": null,
          "aa_length": 1082,
          "cds_start": 3171,
          "cds_end": null,
          "cds_length": 3249,
          "cdna_start": 3267,
          "cdna_end": null,
          "cdna_length": 4175,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.3066G>A",
          "hgvs_p": "p.Glu1022Glu",
          "transcript": "NM_001369874.1",
          "protein_id": "NP_001356803.1",
          "transcript_support_level": null,
          "aa_start": 1022,
          "aa_end": null,
          "aa_length": 1047,
          "cds_start": 3066,
          "cds_end": null,
          "cds_length": 3144,
          "cdna_start": 3073,
          "cdna_end": null,
          "cdna_length": 3981,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.3066G>A",
          "hgvs_p": "p.Glu1022Glu",
          "transcript": "ENST00000649134.1",
          "protein_id": "ENSP00000498068.1",
          "transcript_support_level": null,
          "aa_start": 1022,
          "aa_end": null,
          "aa_length": 1047,
          "cds_start": 3066,
          "cds_end": null,
          "cds_length": 3144,
          "cdna_start": 3073,
          "cdna_end": null,
          "cdna_length": 3964,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.3054G>A",
          "hgvs_p": "p.Glu1018Glu",
          "transcript": "NM_201629.3",
          "protein_id": "NP_963923.1",
          "transcript_support_level": null,
          "aa_start": 1018,
          "aa_end": null,
          "aa_length": 1043,
          "cds_start": 3054,
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          "cdna_start": 3372,
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          "cdna_length": 4284,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.2985G>A",
          "hgvs_p": "p.Glu995Glu",
          "transcript": "NM_001170414.2",
          "protein_id": "NP_001163885.1",
          "transcript_support_level": null,
          "aa_start": 995,
          "aa_end": null,
          "aa_length": 1020,
          "cds_start": 2985,
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          "cds_length": 3063,
          "cdna_start": 3217,
          "cdna_end": null,
          "cdna_length": 4129,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TJP2",
          "gene_hgnc_id": 11828,
          "hgvs_c": "c.1878G>A",
          "hgvs_p": "p.Glu626Glu",
          "transcript": "ENST00000648042.1",
          "protein_id": "ENSP00000497059.1",
          "transcript_support_level": null,
          "aa_start": 626,
          "aa_end": null,
          "aa_length": 651,
          "cds_start": 1878,
          "cds_end": null,
          "cds_length": 1956,
          "cdna_start": 1880,
          "cdna_end": null,
          "cdna_length": 2771,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
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      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.53,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.689,
      "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": -21,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
      "acmg_by_gene": [
        {
          "score": -21,
          "benign_score": 21,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BP7",
            "BS1",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000377245.9",
          "gene_symbol": "TJP2",
          "hgnc_id": 11828,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD,Unknown,AR",
          "hgvs_c": "c.3495G>A",
          "hgvs_p": "p.Glu1165Glu"
        },
        {
          "score": -21,
          "benign_score": 21,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BP7",
            "BS1",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000642889.1",
          "gene_symbol": "ENSG00000285130",
          "hgnc_id": null,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.3882G>A",
          "hgvs_p": "p.Glu1294Glu"
        }
      ],
      "clinvar_disease": "not provided,not specified",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "B:5",
      "phenotype_combined": "not specified|not provided",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}