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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: X-101022037-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=101022037&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "X",
      "pos": 101022037,
      "ref": "A",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_024917.6",
      "consequences": [
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRMT2B",
          "gene_hgnc_id": 25748,
          "hgvs_c": "c.782T>C",
          "hgvs_p": "p.Ile261Thr",
          "transcript": "NM_024917.6",
          "protein_id": "NP_079193.2",
          "transcript_support_level": null,
          "aa_start": 261,
          "aa_end": null,
          "aa_length": 504,
          "cds_start": 782,
          "cds_end": null,
          "cds_length": 1515,
          "cdna_start": 1583,
          "cdna_end": null,
          "cdna_length": 3547,
          "mane_select": "ENST00000372936.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_024917.6"
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRMT2B",
          "gene_hgnc_id": 25748,
          "hgvs_c": "c.782T>C",
          "hgvs_p": "p.Ile261Thr",
          "transcript": "ENST00000372936.4",
          "protein_id": "ENSP00000362027.3",
          "transcript_support_level": 1,
          "aa_start": 261,
          "aa_end": null,
          "aa_length": 504,
          "cds_start": 782,
          "cds_end": null,
          "cds_length": 1515,
          "cdna_start": 1583,
          "cdna_end": null,
          "cdna_length": 3547,
          "mane_select": "NM_024917.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000372936.4"
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRMT2B",
          "gene_hgnc_id": 25748,
          "hgvs_c": "c.782T>C",
          "hgvs_p": "p.Ile261Thr",
          "transcript": "ENST00000372935.5",
          "protein_id": "ENSP00000362026.1",
          "transcript_support_level": 1,
          "aa_start": 261,
          "aa_end": null,
          "aa_length": 504,
          "cds_start": 782,
          "cds_end": null,
          "cds_length": 1515,
          "cdna_start": 1149,
          "cdna_end": null,
          "cdna_length": 2921,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000372935.5"
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRMT2B",
          "gene_hgnc_id": 25748,
          "hgvs_c": "c.782T>C",
          "hgvs_p": "p.Ile261Thr",
          "transcript": "ENST00000545398.5",
          "protein_id": "ENSP00000438134.1",
          "transcript_support_level": 1,
          "aa_start": 261,
          "aa_end": null,
          "aa_length": 504,
          "cds_start": 782,
          "cds_end": null,
          "cds_length": 1515,
          "cdna_start": 1138,
          "cdna_end": null,
          "cdna_length": 3106,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000545398.5"
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRMT2B",
          "gene_hgnc_id": 25748,
          "hgvs_c": "c.647T>C",
          "hgvs_p": "p.Ile216Thr",
          "transcript": "ENST00000372939.5",
          "protein_id": "ENSP00000362030.1",
          "transcript_support_level": 1,
          "aa_start": 216,
          "aa_end": null,
          "aa_length": 459,
          "cds_start": 647,
          "cds_end": null,
          "cds_length": 1380,
          "cdna_start": 1114,
          "cdna_end": null,
          "cdna_length": 3078,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000372939.5"
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRMT2B",
          "gene_hgnc_id": 25748,
          "hgvs_c": "c.782T>C",
          "hgvs_p": "p.Ile261Thr",
          "transcript": "NM_001167970.2",
          "protein_id": "NP_001161442.1",
          "transcript_support_level": null,
          "aa_start": 261,
          "aa_end": null,
          "aa_length": 504,
          "cds_start": 782,
          "cds_end": null,
          "cds_length": 1515,
          "cdna_start": 1190,
          "cdna_end": null,
          "cdna_length": 3154,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001167970.2"
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRMT2B",
          "gene_hgnc_id": 25748,
          "hgvs_c": "c.782T>C",
          "hgvs_p": "p.Ile261Thr",
          "transcript": "NM_001167972.2",
          "protein_id": "NP_001161444.1",
          "transcript_support_level": null,
          "aa_start": 261,
          "aa_end": null,
          "aa_length": 504,
          "cds_start": 782,
          "cds_end": null,
          "cds_length": 1515,
          "cdna_start": 1133,
          "cdna_end": null,
          "cdna_length": 3097,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001167972.2"
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRMT2B",
          "gene_hgnc_id": 25748,
          "hgvs_c": "c.782T>C",
          "hgvs_p": "p.Ile261Thr",
          "transcript": "ENST00000862825.1",
          "protein_id": "ENSP00000532885.1",
          "transcript_support_level": null,
          "aa_start": 261,
          "aa_end": null,
          "aa_length": 504,
          "cds_start": 782,
          "cds_end": null,
          "cds_length": 1515,
          "cdna_start": 1124,
          "cdna_end": null,
          "cdna_length": 3092,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000862825.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRMT2B",
          "gene_hgnc_id": 25748,
          "hgvs_c": "c.782T>C",
          "hgvs_p": "p.Ile261Thr",
          "transcript": "ENST00000862833.1",
          "protein_id": "ENSP00000532892.1",
          "transcript_support_level": null,
          "aa_start": 261,
          "aa_end": null,
          "aa_length": 504,
          "cds_start": 782,
          "cds_end": null,
          "cds_length": 1515,
          "cdna_start": 1084,
          "cdna_end": null,
          "cdna_length": 3045,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000862833.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRMT2B",
          "gene_hgnc_id": 25748,
          "hgvs_c": "c.782T>C",
          "hgvs_p": "p.Ile261Thr",
          "transcript": "ENST00000928862.1",
          "protein_id": "ENSP00000598921.1",
          "transcript_support_level": null,
          "aa_start": 261,
          "aa_end": null,
          "aa_length": 504,
          "cds_start": 782,
          "cds_end": null,
          "cds_length": 1515,
          "cdna_start": 1209,
          "cdna_end": null,
          "cdna_length": 3173,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000928862.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRMT2B",
          "gene_hgnc_id": 25748,
          "hgvs_c": "c.782T>C",
          "hgvs_p": "p.Ile261Thr",
          "transcript": "ENST00000943813.1",
          "protein_id": "ENSP00000613872.1",
          "transcript_support_level": null,
          "aa_start": 261,
          "aa_end": null,
          "aa_length": 504,
          "cds_start": 782,
          "cds_end": null,
          "cds_length": 1515,
          "cdna_start": 1085,
          "cdna_end": null,
          "cdna_length": 3048,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000943813.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRMT2B",
          "gene_hgnc_id": 25748,
          "hgvs_c": "c.779T>C",
          "hgvs_p": "p.Ile260Thr",
          "transcript": "ENST00000928859.1",
          "protein_id": "ENSP00000598918.1",
          "transcript_support_level": null,
          "aa_start": 260,
          "aa_end": null,
          "aa_length": 503,
          "cds_start": 779,
          "cds_end": null,
          "cds_length": 1512,
          "cdna_start": 1139,
          "cdna_end": null,
          "cdna_length": 3100,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000928859.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRMT2B",
          "gene_hgnc_id": 25748,
          "hgvs_c": "c.647T>C",
          "hgvs_p": "p.Ile216Thr",
          "transcript": "NM_001167971.2",
          "protein_id": "NP_001161443.1",
          "transcript_support_level": null,
          "aa_start": 216,
          "aa_end": null,
          "aa_length": 459,
          "cds_start": 647,
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          "cds_length": 1380,
          "cdna_start": 1171,
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          "cdna_length": 3135,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001167971.2"
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRMT2B",
          "gene_hgnc_id": 25748,
          "hgvs_c": "c.647T>C",
          "hgvs_p": "p.Ile216Thr",
          "transcript": "ENST00000862828.1",
          "protein_id": "ENSP00000532887.1",
          "transcript_support_level": null,
          "aa_start": 216,
          "aa_end": null,
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          "cds_start": 647,
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          "cdna_start": 1056,
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          "biotype": "protein_coding",
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        },
        {
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          "exon_count": 12,
          "intron_rank": null,
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          "gene_symbol": "TRMT2B",
          "gene_hgnc_id": 25748,
          "hgvs_c": "c.647T>C",
          "hgvs_p": "p.Ile216Thr",
          "transcript": "ENST00000862834.1",
          "protein_id": "ENSP00000532893.1",
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          "aa_end": null,
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          "cds_start": 647,
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          "cdna_start": 1006,
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          "cdna_length": 2973,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000862834.1"
        },
        {
          "aa_ref": "I",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRMT2B",
          "gene_hgnc_id": 25748,
          "hgvs_c": "c.647T>C",
          "hgvs_p": "p.Ile216Thr",
          "transcript": "ENST00000928860.1",
          "protein_id": "ENSP00000598919.1",
          "transcript_support_level": null,
          "aa_start": 216,
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          "cdna_start": 964,
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          "cdna_length": 2932,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "I",
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          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
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          "gene_symbol": "TRMT2B",
          "gene_hgnc_id": 25748,
          "hgvs_c": "c.647T>C",
          "hgvs_p": "p.Ile216Thr",
          "transcript": "ENST00000943810.1",
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        {
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          "gene_symbol": "TRMT2B",
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          "hgvs_c": "c.647T>C",
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          "transcript": "ENST00000943811.1",
          "protein_id": "ENSP00000613870.1",
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        {
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          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 12,
          "intron_rank": null,
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          "gene_symbol": "TRMT2B",
          "gene_hgnc_id": 25748,
          "hgvs_c": "c.635T>C",
          "hgvs_p": "p.Ile212Thr",
          "transcript": "ENST00000928863.1",
          "protein_id": "ENSP00000598922.1",
          "transcript_support_level": null,
          "aa_start": 212,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": 635,
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          "cds_length": 1368,
          "cdna_start": 993,
          "cdna_end": null,
          "cdna_length": 2954,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000928863.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRMT2B",
          "gene_hgnc_id": 25748,
          "hgvs_c": "c.626T>C",
          "hgvs_p": "p.Ile209Thr",
          "transcript": "ENST00000862831.1",
          "protein_id": "ENSP00000532890.1",
          "transcript_support_level": null,
          "aa_start": 209,
          "aa_end": null,
          "aa_length": 452,
          "cds_start": 626,
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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.