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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: 10-8051222-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=8051222&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 8051222,
      "ref": "T",
      "alt": "A",
      "effect": "non_coding_transcript_exon_variant",
      "transcript": "ENST00000355358.1",
      "consequences": [
        {
          "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": "GATA3-AS1",
          "gene_hgnc_id": 33786,
          "hgvs_c": "n.401+52A>T",
          "hgvs_p": null,
          "transcript": "ENST00000420815.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "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": 650,
          "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": "GATA3-AS1",
          "gene_hgnc_id": 33786,
          "hgvs_c": "n.426+27A>T",
          "hgvs_p": null,
          "transcript": "ENST00000438755.1",
          "protein_id": null,
          "transcript_support_level": 1,
          "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": 675,
          "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": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GATA3-AS1",
          "gene_hgnc_id": 33786,
          "hgvs_c": "n.1442A>T",
          "hgvs_p": null,
          "transcript": "ENST00000355358.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 2214,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000232638",
          "gene_hgnc_id": null,
          "hgvs_c": "n.7T>A",
          "hgvs_p": null,
          "transcript": "ENST00000831882.1",
          "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": 744,
          "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": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GATA3-AS1",
          "gene_hgnc_id": 33786,
          "hgvs_c": "n.1442A>T",
          "hgvs_p": null,
          "transcript": "NR_024256.1",
          "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": 2214,
          "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": 2,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GATA3-AS1",
          "gene_hgnc_id": 33786,
          "hgvs_c": "n.502A>T",
          "hgvs_p": null,
          "transcript": "NR_104329.1",
          "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": 618,
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GATA3",
          "gene_hgnc_id": 4172,
          "hgvs_c": "c.-369-4065T>A",
          "hgvs_p": null,
          "transcript": "NM_001441115.1",
          "protein_id": "NP_001428044.1",
          "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": 3062,
          "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": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GATA3",
          "gene_hgnc_id": 4172,
          "hgvs_c": "c.-369-4065T>A",
          "hgvs_p": null,
          "transcript": "NM_001441116.1",
          "protein_id": "NP_001428045.1",
          "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": 3262,
          "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": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GATA3",
          "gene_hgnc_id": 4172,
          "hgvs_c": "c.-711-1213T>A",
          "hgvs_p": null,
          "transcript": "NM_001441117.1",
          "protein_id": "NP_001428046.1",
          "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": 3404,
          "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": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GATA3",
          "gene_hgnc_id": 4172,
          "hgvs_c": "c.-734-1213T>A",
          "hgvs_p": null,
          "transcript": "NM_001441118.1",
          "protein_id": "NP_001428047.1",
          "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": 3427,
          "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": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GATA3",
          "gene_hgnc_id": 4172,
          "hgvs_c": "c.-712+1038T>A",
          "hgvs_p": null,
          "transcript": "NM_001441119.1",
          "protein_id": "NP_001428048.1",
          "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": 3552,
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GATA3",
          "gene_hgnc_id": 4172,
          "hgvs_c": "c.-370+1038T>A",
          "hgvs_p": null,
          "transcript": "NM_001441120.1",
          "protein_id": "NP_001428049.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cds_length": 1335,
          "cdna_start": null,
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          "mane_select": null,
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        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GATA3",
          "gene_hgnc_id": 4172,
          "hgvs_c": "c.-369-4065T>A",
          "hgvs_p": null,
          "transcript": "NM_001441124.1",
          "protein_id": "NP_001428053.1",
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          "cds_start": -4,
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          "cds_length": 1332,
          "cdna_start": null,
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          "cdna_length": 3059,
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        },
        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
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          "intron_rank": 1,
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          "gene_symbol": "GATA3",
          "gene_hgnc_id": 4172,
          "hgvs_c": "c.-370+1038T>A",
          "hgvs_p": null,
          "transcript": "NM_001441125.1",
          "protein_id": "NP_001428054.1",
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          "aa_length": 443,
          "cds_start": -4,
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          "cds_length": 1332,
          "cdna_start": null,
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          "mane_select": null,
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          "feature": null
        },
        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 6,
          "intron_rank": 1,
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          "gene_symbol": "GATA3",
          "gene_hgnc_id": 4172,
          "hgvs_c": "c.-369-4065T>A",
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          "transcript": "NM_001441129.1",
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          "strand": true,
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          ],
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          "exon_count": 6,
          "intron_rank": 1,
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          "gene_symbol": "GATA3",
          "gene_hgnc_id": 4172,
          "hgvs_c": "c.-369-4065T>A",
          "hgvs_p": null,
          "transcript": "NM_001441132.1",
          "protein_id": "NP_001428061.1",
          "transcript_support_level": null,
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          "aa_length": 366,
          "cds_start": -4,
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          "cds_length": 1101,
          "cdna_start": null,
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          "cdna_length": 3051,
          "mane_select": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GATA3",
          "gene_hgnc_id": 4172,
          "hgvs_c": "c.-369-4065T>A",
          "hgvs_p": null,
          "transcript": "ENST00000643001.1",
          "protein_id": "ENSP00000494284.1",
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          "mane_select": null,
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GATA3-AS1",
          "gene_hgnc_id": 33786,
          "hgvs_c": "n.281+245A>T",
          "hgvs_p": null,
          "transcript": "ENST00000831060.1",
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          "strand": false,
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          ],
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          "gene_symbol": "GATA3-AS1",
          "gene_hgnc_id": 33786,
          "hgvs_c": "n.267+245A>T",
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          "transcript": "ENST00000831061.1",
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        {
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          "strand": false,
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          ],
          "exon_rank": null,
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          "exon_count": 3,
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          "gene_symbol": "GATA3-AS1",
          "gene_hgnc_id": 33786,
          "hgvs_c": "n.232+245A>T",
          "hgvs_p": null,
          "transcript": "ENST00000831072.1",
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          "cdna_length": 759,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "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": "GATA3-AS1",
          "gene_hgnc_id": 33786,
          "hgvs_c": "n.401+52A>T",
          "hgvs_p": null,
          "transcript": "NR_104328.1",
          "protein_id": null,
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          "cdna_length": 650,
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      "gnomad_genomes_ac": null,
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      "gnomad_mito_homoplasmic": null,
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      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": null,
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      "bayesdelnoaf_score": -0.83,
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      "phylop100way_prediction": "Benign",
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      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
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      "acmg_by_gene": [
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          "verdict": "Likely_benign",
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        {
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          "verdict": "Likely_benign",
          "transcript": "ENST00000831882.1",
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          "effects": [
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          "inheritance_mode": "",
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        {
          "score": -2,
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            "BP4_Strong"
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          "verdict": "Likely_benign",
          "transcript": "NM_001441115.1",
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          "effects": [
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          "inheritance_mode": "AD",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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  ],
  "message": null
}