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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: 9-132923438-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=132923438&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 132923438,
      "ref": "G",
      "alt": "A",
      "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": 6,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.418C>T",
          "hgvs_p": "p.Leu140Leu",
          "transcript": "NM_000368.5",
          "protein_id": "NP_000359.1",
          "transcript_support_level": null,
          "aa_start": 140,
          "aa_end": null,
          "aa_length": 1164,
          "cds_start": 418,
          "cds_end": null,
          "cds_length": 3495,
          "cdna_start": 635,
          "cdna_end": null,
          "cdna_length": 8598,
          "mane_select": "ENST00000298552.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.418C>T",
          "hgvs_p": "p.Leu140Leu",
          "transcript": "ENST00000298552.9",
          "protein_id": "ENSP00000298552.3",
          "transcript_support_level": 1,
          "aa_start": 140,
          "aa_end": null,
          "aa_length": 1164,
          "cds_start": 418,
          "cds_end": null,
          "cds_length": 3495,
          "cdna_start": 635,
          "cdna_end": null,
          "cdna_length": 8598,
          "mane_select": "NM_000368.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.418C>T",
          "hgvs_p": "p.Leu140Leu",
          "transcript": "ENST00000490179.4",
          "protein_id": "ENSP00000495533.2",
          "transcript_support_level": 3,
          "aa_start": 140,
          "aa_end": null,
          "aa_length": 1164,
          "cds_start": 418,
          "cds_end": null,
          "cds_length": 3495,
          "cdna_start": 727,
          "cdna_end": null,
          "cdna_length": 8690,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.418C>T",
          "hgvs_p": "p.Leu140Leu",
          "transcript": "ENST00000403810.6",
          "protein_id": "ENSP00000386093.1",
          "transcript_support_level": 1,
          "aa_start": 140,
          "aa_end": null,
          "aa_length": 366,
          "cds_start": 418,
          "cds_end": null,
          "cds_length": 1101,
          "cdna_start": 652,
          "cdna_end": null,
          "cdna_length": 1717,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.418C>T",
          "hgvs_p": "p.Leu140Leu",
          "transcript": "NM_001406592.1",
          "protein_id": "NP_001393521.1",
          "transcript_support_level": null,
          "aa_start": 140,
          "aa_end": null,
          "aa_length": 1164,
          "cds_start": 418,
          "cds_end": null,
          "cds_length": 3495,
          "cdna_start": 606,
          "cdna_end": null,
          "cdna_length": 8569,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.418C>T",
          "hgvs_p": "p.Leu140Leu",
          "transcript": "NM_001406593.1",
          "protein_id": "NP_001393522.1",
          "transcript_support_level": null,
          "aa_start": 140,
          "aa_end": null,
          "aa_length": 1164,
          "cds_start": 418,
          "cds_end": null,
          "cds_length": 3495,
          "cdna_start": 631,
          "cdna_end": null,
          "cdna_length": 8594,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.418C>T",
          "hgvs_p": "p.Leu140Leu",
          "transcript": "NM_001406594.1",
          "protein_id": "NP_001393523.1",
          "transcript_support_level": null,
          "aa_start": 140,
          "aa_end": null,
          "aa_length": 1164,
          "cds_start": 418,
          "cds_end": null,
          "cds_length": 3495,
          "cdna_start": 854,
          "cdna_end": null,
          "cdna_length": 8817,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.418C>T",
          "hgvs_p": "p.Leu140Leu",
          "transcript": "NM_001406595.1",
          "protein_id": "NP_001393524.1",
          "transcript_support_level": null,
          "aa_start": 140,
          "aa_end": null,
          "aa_length": 1164,
          "cds_start": 418,
          "cds_end": null,
          "cds_length": 3495,
          "cdna_start": 825,
          "cdna_end": null,
          "cdna_length": 8788,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.418C>T",
          "hgvs_p": "p.Leu140Leu",
          "transcript": "NM_001406596.1",
          "protein_id": "NP_001393525.1",
          "transcript_support_level": null,
          "aa_start": 140,
          "aa_end": null,
          "aa_length": 1164,
          "cds_start": 418,
          "cds_end": null,
          "cds_length": 3495,
          "cdna_start": 572,
          "cdna_end": null,
          "cdna_length": 8535,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.418C>T",
          "hgvs_p": "p.Leu140Leu",
          "transcript": "ENST00000643875.1",
          "protein_id": "ENSP00000495158.1",
          "transcript_support_level": null,
          "aa_start": 140,
          "aa_end": null,
          "aa_length": 1164,
          "cds_start": 418,
          "cds_end": null,
          "cds_length": 3495,
          "cdna_start": 632,
          "cdna_end": null,
          "cdna_length": 6591,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.418C>T",
          "hgvs_p": "p.Leu140Leu",
          "transcript": "ENST00000646440.2",
          "protein_id": "ENSP00000495830.2",
          "transcript_support_level": null,
          "aa_start": 140,
          "aa_end": null,
          "aa_length": 1164,
          "cds_start": 418,
          "cds_end": null,
          "cds_length": 3495,
          "cdna_start": 752,
          "cdna_end": null,
          "cdna_length": 8715,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
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          "gene_symbol": "TSC1",
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          "hgvs_c": "c.418C>T",
          "hgvs_p": "p.Leu140Leu",
          "transcript": "ENST00000646625.1",
          "protein_id": "ENSP00000496263.1",
          "transcript_support_level": null,
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          "cds_start": 418,
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          "cds_length": 3495,
          "cdna_start": 623,
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          "mane_select": null,
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        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 6,
          "exon_rank_end": null,
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          "intron_rank": null,
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          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.418C>T",
          "hgvs_p": "p.Leu140Leu",
          "transcript": "NM_001162426.2",
          "protein_id": "NP_001155898.1",
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          "aa_length": 1163,
          "cds_start": 418,
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          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 6,
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          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.418C>T",
          "hgvs_p": "p.Leu140Leu",
          "transcript": "NM_001406597.1",
          "protein_id": "NP_001393526.1",
          "transcript_support_level": null,
          "aa_start": 140,
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          "aa_length": 1163,
          "cds_start": 418,
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          "cdna_start": 606,
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        },
        {
          "aa_ref": "L",
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          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.418C>T",
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          "feature": null
        },
        {
          "aa_ref": "L",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 7,
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          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.418C>T",
          "hgvs_p": "p.Leu140Leu",
          "transcript": "NM_001406599.1",
          "protein_id": "NP_001393528.1",
          "transcript_support_level": null,
          "aa_start": 140,
          "aa_end": null,
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          "feature": null
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        {
          "aa_ref": "L",
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "exon_rank": 7,
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          "exon_count": 24,
          "intron_rank": null,
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          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.418C>T",
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          "transcript": "NM_001406600.1",
          "protein_id": "NP_001393529.1",
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        },
        {
          "aa_ref": "L",
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          "intron_rank": null,
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          "gene_symbol": "TSC1",
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        {
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          "intron_rank": null,
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          "gene_symbol": "TSC1",
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          "hgvs_c": "c.418C>T",
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        },
        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "TSC1",
          "gene_hgnc_id": 12362,
          "hgvs_c": "c.418C>T",
          "hgvs_p": "p.Leu140Leu",
          "transcript": "ENST00000644097.1",
          "protein_id": "ENSP00000494682.1",
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          "cdna_start": 759,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
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          "exon_count": 23,
          "intron_rank": null,
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      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "Hereditary cancer-predisposing syndrome",
      "pathogenicity_classification_combined": "Likely benign",
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