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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: 3-97951833-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=97951833&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 97951833,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "NM_153182.4",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "RIOX2",
          "gene_hgnc_id": 19441,
          "hgvs_c": "c.786-945C>T",
          "hgvs_p": null,
          "transcript": "NM_153182.4",
          "protein_id": "NP_694822.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 465,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1398,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000394198.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_153182.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "RIOX2",
          "gene_hgnc_id": 19441,
          "hgvs_c": "c.786-945C>T",
          "hgvs_p": null,
          "transcript": "ENST00000394198.7",
          "protein_id": "ENSP00000377748.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 465,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1398,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_153182.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000394198.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "RIOX2",
          "gene_hgnc_id": 19441,
          "hgvs_c": "c.786-945C>T",
          "hgvs_p": null,
          "transcript": "ENST00000333396.11",
          "protein_id": "ENSP00000328251.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 465,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1398,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000333396.11"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "RIOX2",
          "gene_hgnc_id": 19441,
          "hgvs_c": "c.786-945C>T",
          "hgvs_p": null,
          "transcript": "ENST00000360258.8",
          "protein_id": "ENSP00000353395.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 464,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1395,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000360258.8"
        },
        {
          "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": 5,
          "intron_rank_end": null,
          "gene_symbol": "RIOX2",
          "gene_hgnc_id": 19441,
          "hgvs_c": "n.*43+319C>T",
          "hgvs_p": null,
          "transcript": "ENST00000514314.5",
          "protein_id": "ENSP00000424955.1",
          "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": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000514314.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RIOX2",
          "gene_hgnc_id": 19441,
          "hgvs_c": "c.-224C>T",
          "hgvs_p": null,
          "transcript": "XM_011513244.4",
          "protein_id": "XP_011511546.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 234,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 705,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011513244.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "RIOX2",
          "gene_hgnc_id": 19441,
          "hgvs_c": "c.786-945C>T",
          "hgvs_p": null,
          "transcript": "NM_001042533.3",
          "protein_id": "NP_001035998.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 465,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1398,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001042533.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "RIOX2",
          "gene_hgnc_id": 19441,
          "hgvs_c": "c.786-945C>T",
          "hgvs_p": null,
          "transcript": "ENST00000894042.1",
          "protein_id": "ENSP00000564101.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 465,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1398,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894042.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "RIOX2",
          "gene_hgnc_id": 19441,
          "hgvs_c": "c.786-945C>T",
          "hgvs_p": null,
          "transcript": "ENST00000944346.1",
          "protein_id": "ENSP00000614405.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 465,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1398,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000944346.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "RIOX2",
          "gene_hgnc_id": 19441,
          "hgvs_c": "c.786-945C>T",
          "hgvs_p": null,
          "transcript": "ENST00000944347.1",
          "protein_id": "ENSP00000614406.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 465,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1398,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000944347.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "RIOX2",
          "gene_hgnc_id": 19441,
          "hgvs_c": "c.786-945C>T",
          "hgvs_p": null,
          "transcript": "ENST00000944348.1",
          "protein_id": "ENSP00000614407.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 465,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1398,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000944348.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "RIOX2",
          "gene_hgnc_id": 19441,
          "hgvs_c": "c.786-945C>T",
          "hgvs_p": null,
          "transcript": "NM_001261829.2",
          "protein_id": "NP_001248758.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 464,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001261829.2"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "RIOX2",
          "gene_hgnc_id": 19441,
          "hgvs_c": "c.786-945C>T",
          "hgvs_p": null,
          "transcript": "NM_032778.6",
          "protein_id": "NP_116167.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 464,
          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "NM_032778.6"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
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          "exon_rank": null,
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          "exon_count": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "RIOX2",
          "gene_hgnc_id": 19441,
          "hgvs_c": "c.786-945C>T",
          "hgvs_p": null,
          "transcript": "ENST00000894039.1",
          "protein_id": "ENSP00000564098.1",
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          "aa_start": null,
          "aa_end": null,
          "aa_length": 464,
          "cds_start": null,
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        },
        {
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          ],
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          "intron_rank": 6,
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          "gene_symbol": "RIOX2",
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        },
        {
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          "exon_count": 10,
          "intron_rank": 5,
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          "gene_symbol": "RIOX2",
          "gene_hgnc_id": 19441,
          "hgvs_c": "c.786-945C>T",
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          "transcript": "ENST00000944349.1",
          "protein_id": "ENSP00000614408.1",
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        {
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          ],
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          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "RIOX2",
          "gene_hgnc_id": 19441,
          "hgvs_c": "c.771-945C>T",
          "hgvs_p": null,
          "transcript": "ENST00000894041.1",
          "protein_id": "ENSP00000564100.1",
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          "aa_start": null,
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          "aa_length": 460,
          "cds_start": null,
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          "gene_symbol": "RIOX2",
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        {
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          ],
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          "gene_symbol": "RIOX2",
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          "hgvs_c": "c.771-945C>T",
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          "transcript": "ENST00000944345.1",
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        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "RIOX2",
          "gene_hgnc_id": 19441,
          "hgvs_c": "c.666-945C>T",
          "hgvs_p": null,
          "transcript": "ENST00000894038.1",
          "protein_id": "ENSP00000564097.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 425,
          "cds_start": null,
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          "cds_length": 1278,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000894038.1"
        },
        {
          "aa_ref": null,
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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  "message": null
}