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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: 22-29292643-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=29292643&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "22",
      "pos": 29292643,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_001438500.1",
      "consequences": [
        {
          "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": 17,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.1164+37T>C",
          "hgvs_p": null,
          "transcript": "NM_005243.4",
          "protein_id": "NP_005234.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 656,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1971,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000397938.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_005243.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.1164+37T>C",
          "hgvs_p": null,
          "transcript": "ENST00000397938.7",
          "protein_id": "ENSP00000381031.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 656,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1971,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_005243.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000397938.7"
        },
        {
          "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": 17,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.1161+37T>C",
          "hgvs_p": null,
          "transcript": "ENST00000406548.5",
          "protein_id": "ENSP00000385726.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 655,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1968,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000406548.5"
        },
        {
          "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": 17,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.1056+37T>C",
          "hgvs_p": null,
          "transcript": "ENST00000332050.10",
          "protein_id": "ENSP00000330896.7",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 620,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1863,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000332050.10"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "n.6114+37T>C",
          "hgvs_p": null,
          "transcript": "ENST00000479135.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000479135.5"
        },
        {
          "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": 18,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.1182+37T>C",
          "hgvs_p": null,
          "transcript": "ENST00000959983.1",
          "protein_id": "ENSP00000630042.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 675,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2028,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000959983.1"
        },
        {
          "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": 18,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.1179+37T>C",
          "hgvs_p": null,
          "transcript": "ENST00000889504.1",
          "protein_id": "ENSP00000559563.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 674,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2025,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000889504.1"
        },
        {
          "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": 17,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.1167+37T>C",
          "hgvs_p": null,
          "transcript": "NM_001438500.1",
          "protein_id": "NP_001425429.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 670,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2013,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001438500.1"
        },
        {
          "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": 17,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.1164+37T>C",
          "hgvs_p": null,
          "transcript": "NM_001438528.1",
          "protein_id": "NP_001425457.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 669,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2010,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001438528.1"
        },
        {
          "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": 17,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.1164+37T>C",
          "hgvs_p": null,
          "transcript": "NM_001438530.1",
          "protein_id": "NP_001425459.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 669,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2010,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001438530.1"
        },
        {
          "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": 17,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.1164+37T>C",
          "hgvs_p": null,
          "transcript": "ENST00000889476.1",
          "protein_id": "ENSP00000559535.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 669,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2010,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000889476.1"
        },
        {
          "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": 17,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.1161+37T>C",
          "hgvs_p": null,
          "transcript": "NM_001438531.1",
          "protein_id": "NP_001425460.1",
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          "aa_length": 668,
          "cds_start": null,
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          "cds_length": 2007,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.1161+37T>C",
          "hgvs_p": null,
          "transcript": "ENST00000889472.1",
          "protein_id": "ENSP00000559531.1",
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          "cds_start": null,
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        },
        {
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          "consequences": [
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          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.1158+37T>C",
          "hgvs_p": null,
          "transcript": "ENST00000959986.1",
          "protein_id": "ENSP00000630045.1",
          "transcript_support_level": null,
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          "aa_length": 667,
          "cds_start": null,
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        {
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          "gene_symbol": "EWSR1",
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        {
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          ],
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          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.1161+37T>C",
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          "transcript": "ENST00000925319.1",
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        {
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          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.1185+37T>C",
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          "transcript": "ENST00000925330.1",
          "protein_id": "ENSP00000595389.1",
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        {
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          "gene_symbol": "EWSR1",
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        {
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          "gene_symbol": "EWSR1",
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          "transcript": "ENST00000889509.1",
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        },
        {
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          "consequences": [
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          ],
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          "exon_count": 18,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.1179+37T>C",
          "hgvs_p": null,
          "transcript": "NM_013986.4",
          "protein_id": "NP_053733.2",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 661,
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          "cds_length": 1986,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_013986.4"
        },
        {
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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": 18,
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      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8100000023841858,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "bayesdelnoaf_score": -0.81,
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      "phylop100way_score": 3.508,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
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      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
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          "benign_score": 4,
          "pathogenic_score": 2,
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            "BP4_Strong"
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          "verdict": "Likely_benign",
          "transcript": "NM_001438500.1",
          "gene_symbol": "EWSR1",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}