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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: 17-19357821-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=19357821&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 19357821,
      "ref": "A",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000261499.11",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "B9D1",
          "gene_hgnc_id": 24123,
          "hgvs_c": "c.244+19T>G",
          "hgvs_p": null,
          "transcript": "NM_015681.6",
          "protein_id": "NP_056496.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 204,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 615,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 913,
          "mane_select": "ENST00000261499.11",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "B9D1",
          "gene_hgnc_id": 24123,
          "hgvs_c": "c.244+19T>G",
          "hgvs_p": null,
          "transcript": "ENST00000261499.11",
          "protein_id": "ENSP00000261499.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 204,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 615,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 913,
          "mane_select": "NM_015681.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "B9D1",
          "gene_hgnc_id": 24123,
          "hgvs_c": "c.244+19T>G",
          "hgvs_p": null,
          "transcript": "ENST00000268841.10",
          "protein_id": "ENSP00000268841.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 153,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 462,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 755,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "B9D1",
          "gene_hgnc_id": 24123,
          "hgvs_c": "c.244+19T>G",
          "hgvs_p": null,
          "transcript": "ENST00000477683.5",
          "protein_id": "ENSP00000494660.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 135,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 408,
          "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": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "B9D1",
          "gene_hgnc_id": 24123,
          "hgvs_c": "c.244+19T>G",
          "hgvs_p": null,
          "transcript": "ENST00000663089.1",
          "protein_id": "ENSP00000499469.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 204,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 615,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3480,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "B9D1",
          "gene_hgnc_id": 24123,
          "hgvs_c": "c.244+19T>G",
          "hgvs_p": null,
          "transcript": "NM_001321214.2",
          "protein_id": "NP_001308143.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 187,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 564,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1120,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "B9D1",
          "gene_hgnc_id": 24123,
          "hgvs_c": "c.244+19T>G",
          "hgvs_p": null,
          "transcript": "ENST00000395616.7",
          "protein_id": "ENSP00000378978.3",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 187,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 564,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 733,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "B9D1",
          "gene_hgnc_id": 24123,
          "hgvs_c": "c.244+19T>G",
          "hgvs_p": null,
          "transcript": "ENST00000671102.1",
          "protein_id": "ENSP00000499690.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 187,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 564,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3617,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "B9D1",
          "gene_hgnc_id": 24123,
          "hgvs_c": "c.244+19T>G",
          "hgvs_p": null,
          "transcript": "NM_001321217.2",
          "protein_id": "NP_001308146.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 186,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 561,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1034,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "B9D1",
          "gene_hgnc_id": 24123,
          "hgvs_c": "c.244+19T>G",
          "hgvs_p": null,
          "transcript": "ENST00000461069.6",
          "protein_id": "ENSP00000433359.2",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 186,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 561,
          "cdna_start": null,
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          "cdna_length": 923,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          "exon_count": 6,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "B9D1",
          "gene_hgnc_id": 24123,
          "hgvs_c": "c.244+19T>G",
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          "transcript": "NM_001321215.3",
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          "aa_start": null,
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          "aa_length": 183,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 3497,
          "mane_select": null,
          "mane_plus": null,
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "intron_rank": 3,
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          "gene_symbol": "B9D1",
          "gene_hgnc_id": 24123,
          "hgvs_c": "c.244+19T>G",
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          "transcript": "ENST00000647252.1",
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          "cds_start": -4,
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        {
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          "intron_rank": 3,
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          "gene_symbol": "B9D1",
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          "hgvs_c": "c.244+19T>G",
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        {
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        {
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          "gene_symbol": "B9D1",
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          "gene_symbol": "B9D1",
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          "transcript": "ENST00000675510.1",
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        {
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        {
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          ],
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          "gene_symbol": "B9D1",
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        {
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          "consequences": [
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          ],
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          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "B9D1",
          "gene_hgnc_id": 24123,
          "hgvs_c": "c.-117+19T>G",
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      "computational_source_selected": "BayesDel_noAF",
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      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
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      "acmg_classification": "Likely_benign",
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      "acmg_by_gene": [
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      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "Joubert syndrome;Meckel-Gruber syndrome",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
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  "message": null
}