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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: 9-132896357-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=132896357&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 132896357,
      "ref": "A",
      "alt": "G",
      "effect": "synonymous_variant",
      "transcript": "NM_000368.5",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.3373T>C",
          "hgvs_p": "p.Leu1125Leu",
          "transcript": "NM_000368.5",
          "protein_id": "NP_000359.1",
          "transcript_support_level": null,
          "aa_start": 1125,
          "aa_end": null,
          "aa_length": 1164,
          "cds_start": 3373,
          "cds_end": null,
          "cds_length": 3495,
          "cdna_start": 3590,
          "cdna_end": null,
          "cdna_length": 8598,
          "mane_select": "ENST00000298552.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000368.5"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.3373T>C",
          "hgvs_p": "p.Leu1125Leu",
          "transcript": "ENST00000298552.9",
          "protein_id": "ENSP00000298552.3",
          "transcript_support_level": 1,
          "aa_start": 1125,
          "aa_end": null,
          "aa_length": 1164,
          "cds_start": 3373,
          "cds_end": null,
          "cds_length": 3495,
          "cdna_start": 3590,
          "cdna_end": null,
          "cdna_length": 8598,
          "mane_select": "NM_000368.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000298552.9"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.3373T>C",
          "hgvs_p": "p.Leu1125Leu",
          "transcript": "ENST00000490179.4",
          "protein_id": "ENSP00000495533.2",
          "transcript_support_level": 3,
          "aa_start": 1125,
          "aa_end": null,
          "aa_length": 1164,
          "cds_start": 3373,
          "cds_end": null,
          "cds_length": 3495,
          "cdna_start": 3682,
          "cdna_end": null,
          "cdna_length": 8690,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000490179.4"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.3373T>C",
          "hgvs_p": "p.Leu1125Leu",
          "transcript": "NM_001406592.1",
          "protein_id": "NP_001393521.1",
          "transcript_support_level": null,
          "aa_start": 1125,
          "aa_end": null,
          "aa_length": 1164,
          "cds_start": 3373,
          "cds_end": null,
          "cds_length": 3495,
          "cdna_start": 3561,
          "cdna_end": null,
          "cdna_length": 8569,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001406592.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.3373T>C",
          "hgvs_p": "p.Leu1125Leu",
          "transcript": "NM_001406593.1",
          "protein_id": "NP_001393522.1",
          "transcript_support_level": null,
          "aa_start": 1125,
          "aa_end": null,
          "aa_length": 1164,
          "cds_start": 3373,
          "cds_end": null,
          "cds_length": 3495,
          "cdna_start": 3586,
          "cdna_end": null,
          "cdna_length": 8594,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001406593.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.3373T>C",
          "hgvs_p": "p.Leu1125Leu",
          "transcript": "NM_001406594.1",
          "protein_id": "NP_001393523.1",
          "transcript_support_level": null,
          "aa_start": 1125,
          "aa_end": null,
          "aa_length": 1164,
          "cds_start": 3373,
          "cds_end": null,
          "cds_length": 3495,
          "cdna_start": 3809,
          "cdna_end": null,
          "cdna_length": 8817,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001406594.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.3373T>C",
          "hgvs_p": "p.Leu1125Leu",
          "transcript": "NM_001406595.1",
          "protein_id": "NP_001393524.1",
          "transcript_support_level": null,
          "aa_start": 1125,
          "aa_end": null,
          "aa_length": 1164,
          "cds_start": 3373,
          "cds_end": null,
          "cds_length": 3495,
          "cdna_start": 3780,
          "cdna_end": null,
          "cdna_length": 8788,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001406595.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.3373T>C",
          "hgvs_p": "p.Leu1125Leu",
          "transcript": "NM_001406596.1",
          "protein_id": "NP_001393525.1",
          "transcript_support_level": null,
          "aa_start": 1125,
          "aa_end": null,
          "aa_length": 1164,
          "cds_start": 3373,
          "cds_end": null,
          "cds_length": 3495,
          "cdna_start": 3527,
          "cdna_end": null,
          "cdna_length": 8535,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001406596.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.3373T>C",
          "hgvs_p": "p.Leu1125Leu",
          "transcript": "ENST00000643875.1",
          "protein_id": "ENSP00000495158.1",
          "transcript_support_level": null,
          "aa_start": 1125,
          "aa_end": null,
          "aa_length": 1164,
          "cds_start": 3373,
          "cds_end": null,
          "cds_length": 3495,
          "cdna_start": 3587,
          "cdna_end": null,
          "cdna_length": 6591,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000643875.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.3373T>C",
          "hgvs_p": "p.Leu1125Leu",
          "transcript": "ENST00000646440.2",
          "protein_id": "ENSP00000495830.2",
          "transcript_support_level": null,
          "aa_start": 1125,
          "aa_end": null,
          "aa_length": 1164,
          "cds_start": 3373,
          "cds_end": null,
          "cds_length": 3495,
          "cdna_start": 3707,
          "cdna_end": null,
          "cdna_length": 8715,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000646440.2"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.3373T>C",
          "hgvs_p": "p.Leu1125Leu",
          "transcript": "ENST00000646625.1",
          "protein_id": "ENSP00000496263.1",
          "transcript_support_level": null,
          "aa_start": 1125,
          "aa_end": null,
          "aa_length": 1164,
          "cds_start": 3373,
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          "cds_length": 3495,
          "cdna_start": 3578,
          "cdna_end": null,
          "cdna_length": 8582,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000646625.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.3370T>C",
          "hgvs_p": "p.Leu1124Leu",
          "transcript": "NM_001162426.2",
          "protein_id": "NP_001155898.1",
          "transcript_support_level": null,
          "aa_start": 1124,
          "aa_end": null,
          "aa_length": 1163,
          "cds_start": 3370,
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          "cdna_start": 3587,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001162426.2"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.3370T>C",
          "hgvs_p": "p.Leu1124Leu",
          "transcript": "NM_001406597.1",
          "protein_id": "NP_001393526.1",
          "transcript_support_level": null,
          "aa_start": 1124,
          "aa_end": null,
          "aa_length": 1163,
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          "cds_length": 3492,
          "cdna_start": 3558,
          "cdna_end": null,
          "cdna_length": 8566,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001406597.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.3370T>C",
          "hgvs_p": "p.Leu1124Leu",
          "transcript": "NM_001406598.1",
          "protein_id": "NP_001393527.1",
          "transcript_support_level": null,
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          "cdna_start": 3583,
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          "mane_select": null,
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
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          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.3370T>C",
          "hgvs_p": "p.Leu1124Leu",
          "transcript": "NM_001406599.1",
          "protein_id": "NP_001393528.1",
          "transcript_support_level": null,
          "aa_start": 1124,
          "aa_end": null,
          "aa_length": 1163,
          "cds_start": 3370,
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          "cdna_start": 3806,
          "cdna_end": null,
          "cdna_length": 8814,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001406599.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
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          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.3370T>C",
          "hgvs_p": "p.Leu1124Leu",
          "transcript": "NM_001406600.1",
          "protein_id": "NP_001393529.1",
          "transcript_support_level": null,
          "aa_start": 1124,
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          "cdna_start": 3777,
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          "cdna_length": 8785,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001406600.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.3370T>C",
          "hgvs_p": "p.Leu1124Leu",
          "transcript": "ENST00000475903.7",
          "protein_id": "ENSP00000496126.2",
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        {
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          "protein_coding": true,
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          "exon_count": 23,
          "intron_rank": null,
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          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.3370T>C",
          "hgvs_p": "p.Leu1124Leu",
          "transcript": "ENST00000642617.1",
          "protein_id": "ENSP00000493773.1",
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "L",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 23,
          "intron_rank": null,
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          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.3370T>C",
          "hgvs_p": "p.Leu1124Leu",
          "transcript": "ENST00000644097.1",
          "protein_id": "ENSP00000494682.1",
          "transcript_support_level": null,
          "aa_start": 1124,
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          "cds_start": 3370,
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          "cdna_start": 3711,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000644097.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.3370T>C",
          "hgvs_p": "p.Leu1124Leu",
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      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.7699999809265137,
      "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": -0.77,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.169,
      "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": -17,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
      "acmg_by_gene": [
        {
          "score": -17,
          "benign_score": 17,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BP7",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "NM_000368.5",
          "gene_symbol": "TSC1",
          "hgnc_id": 12362,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.3373T>C",
          "hgvs_p": "p.Leu1125Leu"
        }
      ],
      "clinvar_disease": "Hereditary cancer-predisposing syndrome,Tuberous sclerosis 1,Tuberous sclerosis syndrome,not provided",
      "clinvar_classification": "Benign/Likely benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "LB:5 B:2",
      "phenotype_combined": "Hereditary cancer-predisposing syndrome|not provided|Tuberous sclerosis 1|Tuberous sclerosis syndrome",
      "pathogenicity_classification_combined": "Benign/Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}
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