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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: 11-61785208-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61785208&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 61785208,
      "ref": "G",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_001127392.3",
      "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": 27,
          "intron_rank": 25,
          "intron_rank_end": null,
          "gene_symbol": "MYRF",
          "gene_hgnc_id": 1181,
          "hgvs_c": "c.3301-592G>C",
          "hgvs_p": null,
          "transcript": "NM_001127392.3",
          "protein_id": "NP_001120864.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1151,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3456,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5940,
          "mane_select": "ENST00000278836.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001127392.3"
        },
        {
          "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": 27,
          "intron_rank": 25,
          "intron_rank_end": null,
          "gene_symbol": "MYRF",
          "gene_hgnc_id": 1181,
          "hgvs_c": "c.3301-592G>C",
          "hgvs_p": null,
          "transcript": "ENST00000278836.10",
          "protein_id": "ENSP00000278836.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1151,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3456,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5940,
          "mane_select": "NM_001127392.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000278836.10"
        },
        {
          "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": 26,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "MYRF",
          "gene_hgnc_id": 1181,
          "hgvs_c": "c.3181-592G>C",
          "hgvs_p": null,
          "transcript": "ENST00000265460.9",
          "protein_id": "ENSP00000265460.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1111,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3336,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5745,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000265460.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "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": "MYRF",
          "gene_hgnc_id": 1181,
          "hgvs_c": "n.3022G>C",
          "hgvs_p": null,
          "transcript": "ENST00000539361.1",
          "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": 3324,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000539361.1"
        },
        {
          "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": 27,
          "intron_rank": 25,
          "intron_rank_end": null,
          "gene_symbol": "MYRF",
          "gene_hgnc_id": 1181,
          "hgvs_c": "c.3304-592G>C",
          "hgvs_p": null,
          "transcript": "ENST00000856811.1",
          "protein_id": "ENSP00000526870.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1152,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3459,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5920,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000856811.1"
        },
        {
          "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": 27,
          "intron_rank": 25,
          "intron_rank_end": null,
          "gene_symbol": "MYRF",
          "gene_hgnc_id": 1181,
          "hgvs_c": "c.3289-592G>C",
          "hgvs_p": null,
          "transcript": "ENST00000856806.1",
          "protein_id": "ENSP00000526865.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1147,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3444,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5934,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000856806.1"
        },
        {
          "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": 27,
          "intron_rank": 25,
          "intron_rank_end": null,
          "gene_symbol": "MYRF",
          "gene_hgnc_id": 1181,
          "hgvs_c": "c.3286-592G>C",
          "hgvs_p": null,
          "transcript": "ENST00000856800.1",
          "protein_id": "ENSP00000526859.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1146,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3441,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5943,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000856800.1"
        },
        {
          "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": 26,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "MYRF",
          "gene_hgnc_id": 1181,
          "hgvs_c": "c.3223-592G>C",
          "hgvs_p": null,
          "transcript": "ENST00000856799.1",
          "protein_id": "ENSP00000526858.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1125,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3378,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5905,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000856799.1"
        },
        {
          "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": 26,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "MYRF",
          "gene_hgnc_id": 1181,
          "hgvs_c": "c.3220-592G>C",
          "hgvs_p": null,
          "transcript": "ENST00000856812.1",
          "protein_id": "ENSP00000526871.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1124,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3375,
          "cdna_start": null,
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          "cdna_length": 5836,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000856812.1"
        },
        {
          "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": 26,
          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "MYRF",
          "gene_hgnc_id": 1181,
          "hgvs_c": "c.3208-592G>C",
          "hgvs_p": null,
          "transcript": "ENST00000856803.1",
          "protein_id": "ENSP00000526862.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1120,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": 5857,
          "mane_select": null,
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          "biotype": "protein_coding",
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        {
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          "canonical": false,
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          "consequences": [
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          "intron_rank": 24,
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          "gene_symbol": "MYRF",
          "gene_hgnc_id": 1181,
          "hgvs_c": "c.3205-592G>C",
          "hgvs_p": null,
          "transcript": "ENST00000856801.1",
          "protein_id": "ENSP00000526860.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 1119,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "consequences": [
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          "intron_rank": 26,
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          "gene_symbol": "MYRF",
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          "cdna_start": null,
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        {
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          "gene_symbol": "MYRF",
          "gene_hgnc_id": 1181,
          "hgvs_c": "c.3181-592G>C",
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          "transcript": "NM_013279.4",
          "protein_id": "NP_037411.1",
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        },
        {
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          "gene_symbol": "MYRF",
          "gene_hgnc_id": 1181,
          "hgvs_c": "c.3175-592G>C",
          "hgvs_p": null,
          "transcript": "ENST00000856810.1",
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        {
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          "gene_symbol": "MYRF",
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          "transcript": "ENST00000856804.1",
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          "gene_symbol": "MYRF",
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          "transcript": "ENST00000856798.1",
          "protein_id": "ENSP00000526857.1",
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        {
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          "consequences": [
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          ],
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          "intron_rank": 24,
          "intron_rank_end": null,
          "gene_symbol": "MYRF",
          "gene_hgnc_id": 1181,
          "hgvs_c": "c.3019-592G>C",
          "hgvs_p": null,
          "transcript": "ENST00000918478.1",
          "protein_id": "ENSP00000588537.1",
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        {
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          "protein_coding": true,
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      "clinvar_classification": "",
      "clinvar_review_status": "",
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      "custom_annotations": null
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}
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.