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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: 1-23338018-T-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=23338018&ref=T&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 23338018,
      "ref": "T",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000374616.7",
      "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": 11,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPR",
          "gene_hgnc_id": 5047,
          "hgvs_c": "c.277-157A>C",
          "hgvs_p": null,
          "transcript": "NM_005826.5",
          "protein_id": "NP_005817.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 633,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1902,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7751,
          "mane_select": "ENST00000302271.11",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 11,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPR",
          "gene_hgnc_id": 5047,
          "hgvs_c": "c.277-157A>C",
          "hgvs_p": null,
          "transcript": "ENST00000302271.11",
          "protein_id": "ENSP00000304405.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 633,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1902,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7751,
          "mane_select": "NM_005826.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 11,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPR",
          "gene_hgnc_id": 5047,
          "hgvs_c": "c.277-157A>C",
          "hgvs_p": null,
          "transcript": "ENST00000374616.7",
          "protein_id": "ENSP00000363745.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 636,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1911,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2691,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPR",
          "gene_hgnc_id": 5047,
          "hgvs_c": "c.-27-157A>C",
          "hgvs_p": null,
          "transcript": "ENST00000478691.5",
          "protein_id": "ENSP00000474437.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 535,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1608,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7646,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 3,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPR",
          "gene_hgnc_id": 5047,
          "hgvs_c": "c.277-157A>C",
          "hgvs_p": null,
          "transcript": "NM_001102398.3",
          "protein_id": "NP_001095868.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 636,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1911,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7760,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 3,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPR",
          "gene_hgnc_id": 5047,
          "hgvs_c": "c.277-157A>C",
          "hgvs_p": null,
          "transcript": "NM_001438564.1",
          "protein_id": "NP_001425493.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 633,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1902,
          "cdna_start": null,
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          "cdna_length": 7754,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 3,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPR",
          "gene_hgnc_id": 5047,
          "hgvs_c": "c.277-157A>C",
          "hgvs_p": null,
          "transcript": "ENST00000374612.5",
          "protein_id": "ENSP00000363741.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 633,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1902,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2694,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 3,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPR",
          "gene_hgnc_id": 5047,
          "hgvs_c": "c.277-157A>C",
          "hgvs_p": null,
          "transcript": "NM_001297620.2",
          "protein_id": "NP_001284549.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 595,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1788,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7637,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 3,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPR",
          "gene_hgnc_id": 5047,
          "hgvs_c": "c.277-157A>C",
          "hgvs_p": null,
          "transcript": "ENST00000463552.6",
          "protein_id": "ENSP00000502509.2",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 595,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 7683,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 10,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPR",
          "gene_hgnc_id": 5047,
          "hgvs_c": "c.277-157A>C",
          "hgvs_p": null,
          "transcript": "NM_001437727.1",
          "protein_id": "NP_001424656.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 574,
          "cds_start": -4,
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          "cds_length": 1725,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
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        },
        {
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          "canonical": false,
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          "consequences": [
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          "gene_symbol": "HNRNPR",
          "gene_hgnc_id": 5047,
          "hgvs_c": "c.277-157A>C",
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          "cds_start": -4,
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          "mane_select": null,
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        {
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          "canonical": false,
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          "intron_rank": 2,
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          "gene_symbol": "HNRNPR",
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          "hgvs_c": "c.-27-157A>C",
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          "transcript": "NM_001102399.3",
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        {
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          "gene_symbol": "HNRNPR",
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          "hgvs_c": "c.-28+45A>C",
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          "transcript": "ENST00000476451.3",
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          "gene_symbol": "HNRNPR",
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          "gene_symbol": "HNRNPR",
          "gene_hgnc_id": 5047,
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          "transcript": "XM_047424719.1",
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