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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: 22-29268348-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=29268348&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "22",
      "pos": 29268348,
      "ref": "G",
      "alt": "T",
      "effect": "splice_region_variant,synonymous_variant",
      "transcript": "NM_001438500.1",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.12G>T",
          "hgvs_p": "p.Thr4Thr",
          "transcript": "NM_005243.4",
          "protein_id": "NP_005234.1",
          "transcript_support_level": null,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 656,
          "cds_start": 12,
          "cds_end": null,
          "cds_length": 1971,
          "cdna_start": 81,
          "cdna_end": null,
          "cdna_length": 2400,
          "mane_select": "ENST00000397938.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_005243.4"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.12G>T",
          "hgvs_p": "p.Thr4Thr",
          "transcript": "ENST00000397938.7",
          "protein_id": "ENSP00000381031.2",
          "transcript_support_level": 1,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 656,
          "cds_start": 12,
          "cds_end": null,
          "cds_length": 1971,
          "cdna_start": 81,
          "cdna_end": null,
          "cdna_length": 2400,
          "mane_select": "NM_005243.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000397938.7"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.12G>T",
          "hgvs_p": "p.Thr4Thr",
          "transcript": "ENST00000406548.5",
          "protein_id": "ENSP00000385726.1",
          "transcript_support_level": 1,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 655,
          "cds_start": 12,
          "cds_end": null,
          "cds_length": 1968,
          "cdna_start": 76,
          "cdna_end": null,
          "cdna_length": 2207,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000406548.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.12G>T",
          "hgvs_p": "p.Thr4Thr",
          "transcript": "ENST00000332050.10",
          "protein_id": "ENSP00000330896.7",
          "transcript_support_level": 1,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 620,
          "cds_start": 12,
          "cds_end": null,
          "cds_length": 1863,
          "cdna_start": 340,
          "cdna_end": null,
          "cdna_length": 2552,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000332050.10"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.12G>T",
          "hgvs_p": "p.Thr4Thr",
          "transcript": "ENST00000333395.11",
          "protein_id": "ENSP00000327456.6",
          "transcript_support_level": 1,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 354,
          "cds_start": 12,
          "cds_end": null,
          "cds_length": 1065,
          "cdna_start": 81,
          "cdna_end": null,
          "cdna_length": 1315,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000333395.11"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "n.36G>T",
          "hgvs_p": null,
          "transcript": "ENST00000483415.5",
          "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": 3231,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000483415.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.12G>T",
          "hgvs_p": "p.Thr4Thr",
          "transcript": "ENST00000959983.1",
          "protein_id": "ENSP00000630042.1",
          "transcript_support_level": null,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 675,
          "cds_start": 12,
          "cds_end": null,
          "cds_length": 2028,
          "cdna_start": 56,
          "cdna_end": null,
          "cdna_length": 2424,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000959983.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.12G>T",
          "hgvs_p": "p.Thr4Thr",
          "transcript": "ENST00000889504.1",
          "protein_id": "ENSP00000559563.1",
          "transcript_support_level": null,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 674,
          "cds_start": 12,
          "cds_end": null,
          "cds_length": 2025,
          "cdna_start": 25,
          "cdna_end": null,
          "cdna_length": 2388,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000889504.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.12G>T",
          "hgvs_p": "p.Thr4Thr",
          "transcript": "NM_001438500.1",
          "protein_id": "NP_001425429.1",
          "transcript_support_level": null,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 670,
          "cds_start": 12,
          "cds_end": null,
          "cds_length": 2013,
          "cdna_start": 81,
          "cdna_end": null,
          "cdna_length": 2442,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001438500.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.12G>T",
          "hgvs_p": "p.Thr4Thr",
          "transcript": "NM_001438528.1",
          "protein_id": "NP_001425457.1",
          "transcript_support_level": null,
          "aa_start": 4,
          "aa_end": null,
          "aa_length": 669,
          "cds_start": 12,
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          "cds_length": 2010,
          "cdna_start": 81,
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          "cdna_length": 2439,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001438528.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.12G>T",
          "hgvs_p": "p.Thr4Thr",
          "transcript": "NM_001438530.1",
          "protein_id": "NP_001425459.1",
          "transcript_support_level": null,
          "aa_start": 4,
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          "cds_start": 12,
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          "cdna_start": 81,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.12G>T",
          "hgvs_p": "p.Thr4Thr",
          "transcript": "ENST00000889476.1",
          "protein_id": "ENSP00000559535.1",
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          "cdna_start": 81,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000889476.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 1,
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          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.12G>T",
          "hgvs_p": "p.Thr4Thr",
          "transcript": "NM_001438531.1",
          "protein_id": "NP_001425460.1",
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          "aa_length": 668,
          "cds_start": 12,
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          "cds_length": 2007,
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          "cdna_length": 2436,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001438531.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
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          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.12G>T",
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        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
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          "protein_coding": true,
          "strand": true,
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            "splice_region_variant",
            "synonymous_variant"
          ],
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          "intron_rank": null,
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          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.12G>T",
          "hgvs_p": "p.Thr4Thr",
          "transcript": "ENST00000959986.1",
          "protein_id": "ENSP00000630045.1",
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          "cds_start": 12,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 1,
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          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "EWSR1",
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          "hgvs_c": "c.12G>T",
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          "transcript": "ENST00000925322.1",
          "protein_id": "ENSP00000595381.1",
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          "biotype": "protein_coding",
          "feature": "ENST00000925322.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
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          "gene_symbol": "EWSR1",
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        {
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          "aa_alt": "T",
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          "protein_coding": true,
          "strand": true,
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            "splice_region_variant",
            "synonymous_variant"
          ],
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          "intron_rank": null,
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          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.12G>T",
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          "biotype": "protein_coding",
          "feature": "ENST00000925330.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
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          "exon_count": 18,
          "intron_rank": null,
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          "gene_symbol": "EWSR1",
          "gene_hgnc_id": 3508,
          "hgvs_c": "c.12G>T",
          "hgvs_p": "p.Thr4Thr",
          "transcript": "ENST00000889477.1",
          "protein_id": "ENSP00000559536.1",
          "transcript_support_level": null,
          "aa_start": 4,
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          "aa_length": 662,
          "cds_start": 12,
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          "cds_length": 1989,
          "cdna_start": 81,
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          "cdna_length": 2420,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000889477.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
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            "BP4_Moderate"
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          "verdict": "Uncertain_significance",
          "transcript": "NM_001329536.1",
          "gene_symbol": "RHBDD3",
          "hgnc_id": 1308,
          "effects": [
            "upstream_gene_variant"
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          "inheritance_mode": "AR",
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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
}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.