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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: 8-127796593-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=127796593&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "8",
      "pos": 127796593,
      "ref": "T",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000521951.2",
      "consequences": [
        {
          "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": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PVT1",
          "gene_hgnc_id": 9709,
          "hgvs_c": "n.211+1859T>C",
          "hgvs_p": null,
          "transcript": "ENST00000667305.2",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1703,
          "mane_select": "NR_190187.1",
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000667305.2"
        },
        {
          "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": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PVT1",
          "gene_hgnc_id": 9709,
          "hgvs_c": "n.211+1859T>C",
          "hgvs_p": null,
          "transcript": "NR_190187.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1703,
          "mane_select": "ENST00000667305.2",
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "NR_190187.1"
        },
        {
          "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": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PVT1",
          "gene_hgnc_id": 9709,
          "hgvs_c": "n.178+1859T>C",
          "hgvs_p": null,
          "transcript": "ENST00000521951.2",
          "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": 1894,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000521951.2"
        },
        {
          "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": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PVT1",
          "gene_hgnc_id": 9709,
          "hgvs_c": "n.170+1859T>C",
          "hgvs_p": null,
          "transcript": "ENST00000523328.6",
          "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": 1047,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000523328.6"
        },
        {
          "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": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PVT1",
          "gene_hgnc_id": 9709,
          "hgvs_c": "n.208+1859T>C",
          "hgvs_p": null,
          "transcript": "ENST00000504719.8",
          "protein_id": null,
          "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": 1035,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000504719.8"
        },
        {
          "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": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PVT1",
          "gene_hgnc_id": 9709,
          "hgvs_c": "n.375+522T>C",
          "hgvs_p": null,
          "transcript": "ENST00000517525.2",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": 1194,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000517525.2"
        },
        {
          "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": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PVT1",
          "gene_hgnc_id": 9709,
          "hgvs_c": "n.863+522T>C",
          "hgvs_p": null,
          "transcript": "ENST00000517790.2",
          "protein_id": null,
          "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": 1513,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000517790.2"
        },
        {
          "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": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PVT1",
          "gene_hgnc_id": 9709,
          "hgvs_c": "n.202+522T>C",
          "hgvs_p": null,
          "transcript": "ENST00000518528.2",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": 995,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000518528.2"
        },
        {
          "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": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PVT1",
          "gene_hgnc_id": 9709,
          "hgvs_c": "n.872+585T>C",
          "hgvs_p": null,
          "transcript": "ENST00000522963.7",
          "protein_id": null,
          "transcript_support_level": 4,
          "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": 1703,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000522963.7"
        },
        {
          "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": 11,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PVT1",
          "gene_hgnc_id": 9709,
          "hgvs_c": "n.39+522T>C",
          "hgvs_p": null,
          "transcript": "ENST00000523068.2",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 2255,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000523068.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 2,
          "intron_rank": 1,
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          "gene_symbol": "PVT1",
          "gene_hgnc_id": 9709,
          "hgvs_c": "n.196+1859T>C",
          "hgvs_p": null,
          "transcript": "ENST00000523427.3",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 883,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000523427.3"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PVT1",
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          "hgvs_c": "n.311+585T>C",
          "hgvs_p": null,
          "transcript": "ENST00000524165.7",
          "protein_id": null,
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          "cds_start": null,
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          "mane_select": null,
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          "biotype": "pseudogene",
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        {
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          "canonical": false,
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          "intron_rank": 2,
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          "gene_symbol": "PVT1",
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          "hgvs_c": "n.372+522T>C",
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        {
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          "gene_symbol": "PVT1",
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          "hgvs_c": "n.198+1859T>C",
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          "transcript": "ENST00000652816.1",
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          "mane_select": null,
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        },
        {
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        {
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          "gene_symbol": "PVT1",
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          "hgvs_c": "n.197+1859T>C",
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          "transcript": "ENST00000653845.1",
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        {
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          "gene_symbol": "PVT1",
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        },
        {
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          "canonical": false,
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          "consequences": [
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          ],
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          "intron_rank": 2,
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          "gene_symbol": "PVT1",
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          "gene_symbol": "PVT1",
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          "hgvs_c": "n.185+1859T>C",
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        {
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          "gene_symbol": "PVT1",
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          "mane_select": null,
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          "biotype": "pseudogene",
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        },
        {
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          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PVT1",
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          "hgvs_c": "n.305+522T>C",
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          "transcript": "ENST00000656168.1",
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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.