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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: 22-24439072-CTTTT-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=24439072&ref=CTTTT&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "22",
      "pos": 24439072,
      "ref": "CTTTT",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_000675.6",
      "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": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ADORA2A",
          "gene_hgnc_id": 263,
          "hgvs_c": "c.333-1485_333-1482delTTTT",
          "hgvs_p": null,
          "transcript": "NM_000675.6",
          "protein_id": "NP_000666.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 412,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1239,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2529,
          "mane_select": "ENST00000337539.12",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000675.6"
        },
        {
          "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": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ADORA2A",
          "gene_hgnc_id": 263,
          "hgvs_c": "c.333-1510_333-1507delTTTT",
          "hgvs_p": null,
          "transcript": "ENST00000337539.12",
          "protein_id": "ENSP00000336630.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 412,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1239,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2529,
          "mane_select": "NM_000675.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000337539.12"
        },
        {
          "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": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ADORA2A",
          "gene_hgnc_id": 263,
          "hgvs_c": "c.333-1510_333-1507delTTTT",
          "hgvs_p": null,
          "transcript": "ENST00000618076.3",
          "protein_id": "ENSP00000481552.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 412,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1239,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2630,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000618076.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "SPECC1L-ADORA2A",
          "gene_hgnc_id": 49185,
          "hgvs_c": "n.*1468-1510_*1468-1507delTTTT",
          "hgvs_p": null,
          "transcript": "ENST00000358654.2",
          "protein_id": "ENSP00000351480.2",
          "transcript_support_level": 2,
          "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": 6204,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000358654.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ADORA2A-AS1",
          "gene_hgnc_id": 37122,
          "hgvs_c": "n.1544+218_1544+221delAAAA",
          "hgvs_p": null,
          "transcript": "ENST00000427813.6",
          "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": 2027,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000427813.6"
        },
        {
          "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": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ADORA2A",
          "gene_hgnc_id": 263,
          "hgvs_c": "c.333-1485_333-1482delTTTT",
          "hgvs_p": null,
          "transcript": "NM_001278497.2",
          "protein_id": "NP_001265426.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 412,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1239,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2608,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001278497.2"
        },
        {
          "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": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ADORA2A",
          "gene_hgnc_id": 263,
          "hgvs_c": "c.333-1485_333-1482delTTTT",
          "hgvs_p": null,
          "transcript": "NM_001278498.2",
          "protein_id": "NP_001265427.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 412,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1239,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2502,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001278498.2"
        },
        {
          "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": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ADORA2A",
          "gene_hgnc_id": 263,
          "hgvs_c": "c.333-1485_333-1482delTTTT",
          "hgvs_p": null,
          "transcript": "NM_001278499.2",
          "protein_id": "NP_001265428.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 412,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1239,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2509,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001278499.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
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          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ADORA2A",
          "gene_hgnc_id": 263,
          "hgvs_c": "c.333-1485_333-1482delTTTT",
          "hgvs_p": null,
          "transcript": "NM_001278500.2",
          "protein_id": "NP_001265429.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 412,
          "cds_start": null,
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          "cds_length": 1239,
          "cdna_start": null,
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          "cdna_length": 2413,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001278500.2"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "ADORA2A",
          "gene_hgnc_id": 263,
          "hgvs_c": "c.333-1510_333-1507delTTTT",
          "hgvs_p": null,
          "transcript": "ENST00000610595.4",
          "protein_id": "ENSP00000480012.1",
          "transcript_support_level": 2,
          "aa_start": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": 2736,
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        {
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          "consequences": [
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          "exon_count": 3,
          "intron_rank": 2,
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          "gene_symbol": "ADORA2A",
          "gene_hgnc_id": 263,
          "hgvs_c": "c.333-1510_333-1507delTTTT",
          "hgvs_p": null,
          "transcript": "ENST00000611543.4",
          "protein_id": "ENSP00000483102.1",
          "transcript_support_level": 5,
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          "cds_start": null,
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          "cdna_start": null,
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        {
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        {
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        {
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          "exon_count": 3,
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          "gene_symbol": "ADORA2A",
          "gene_hgnc_id": 263,
          "hgvs_c": "c.333-1510_333-1507delTTTT",
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          "transcript": "ENST00000880357.1",
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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.