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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: 3-172341331-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=172341331&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 172341331,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "NM_022763.4",
      "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": 26,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "FNDC3B",
          "gene_hgnc_id": 24670,
          "hgvs_c": "c.1971+100G>A",
          "hgvs_p": null,
          "transcript": "NM_022763.4",
          "protein_id": "NP_073600.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1204,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3615,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000415807.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_022763.4"
        },
        {
          "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": 26,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "FNDC3B",
          "gene_hgnc_id": 24670,
          "hgvs_c": "c.1971+100G>A",
          "hgvs_p": null,
          "transcript": "ENST00000415807.7",
          "protein_id": "ENSP00000411242.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1204,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3615,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_022763.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000415807.7"
        },
        {
          "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": 26,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "FNDC3B",
          "gene_hgnc_id": 24670,
          "hgvs_c": "c.1971+100G>A",
          "hgvs_p": null,
          "transcript": "ENST00000336824.8",
          "protein_id": "ENSP00000338523.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1204,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3615,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000336824.8"
        },
        {
          "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": 26,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "FNDC3B",
          "gene_hgnc_id": 24670,
          "hgvs_c": "c.1971+100G>A",
          "hgvs_p": null,
          "transcript": "ENST00000416957.5",
          "protein_id": "ENSP00000389094.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1204,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3615,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000416957.5"
        },
        {
          "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": 27,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "FNDC3B",
          "gene_hgnc_id": 24670,
          "hgvs_c": "c.1971+100G>A",
          "hgvs_p": null,
          "transcript": "ENST00000899168.1",
          "protein_id": "ENSP00000569227.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1244,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3735,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000899168.1"
        },
        {
          "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": 27,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "FNDC3B",
          "gene_hgnc_id": 24670,
          "hgvs_c": "c.1971+100G>A",
          "hgvs_p": null,
          "transcript": "ENST00000947479.1",
          "protein_id": "ENSP00000617538.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1230,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3693,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000947479.1"
        },
        {
          "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": 26,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "FNDC3B",
          "gene_hgnc_id": 24670,
          "hgvs_c": "c.1971+100G>A",
          "hgvs_p": null,
          "transcript": "NM_001135095.2",
          "protein_id": "NP_001128567.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1204,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3615,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001135095.2"
        },
        {
          "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": 27,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "FNDC3B",
          "gene_hgnc_id": 24670,
          "hgvs_c": "c.1971+100G>A",
          "hgvs_p": null,
          "transcript": "ENST00000899158.1",
          "protein_id": "ENSP00000569217.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1204,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3615,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000899158.1"
        },
        {
          "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": 26,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "FNDC3B",
          "gene_hgnc_id": 24670,
          "hgvs_c": "c.1971+100G>A",
          "hgvs_p": null,
          "transcript": "ENST00000899162.1",
          "protein_id": "ENSP00000569221.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1204,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3615,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000899162.1"
        },
        {
          "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": 27,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "FNDC3B",
          "gene_hgnc_id": 24670,
          "hgvs_c": "c.1971+100G>A",
          "hgvs_p": null,
          "transcript": "ENST00000899164.1",
          "protein_id": "ENSP00000569223.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1204,
          "cds_start": null,
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          "cds_length": 3615,
          "cdna_start": null,
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          "biotype": "protein_coding",
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        {
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          "canonical": false,
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          "strand": true,
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          "exon_rank": null,
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          "exon_count": 26,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "FNDC3B",
          "gene_hgnc_id": 24670,
          "hgvs_c": "c.1971+100G>A",
          "hgvs_p": null,
          "transcript": "ENST00000899165.1",
          "protein_id": "ENSP00000569224.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1204,
          "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",
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        {
          "aa_ref": null,
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          "strand": true,
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          "intron_rank": 18,
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          "gene_symbol": "FNDC3B",
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        {
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          "intron_rank": 19,
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          "gene_symbol": "FNDC3B",
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          "hgvs_c": "c.1971+100G>A",
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          "transcript": "ENST00000899173.1",
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        {
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          "gene_symbol": "FNDC3B",
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          "hgvs_c": "c.1971+100G>A",
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        {
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          "intron_rank": 18,
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          "gene_symbol": "FNDC3B",
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          "hgvs_c": "c.1971+100G>A",
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        {
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          "intron_rank": 18,
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          "gene_symbol": "FNDC3B",
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          "hgvs_c": "c.1971+100G>A",
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          "transcript": "ENST00000899183.1",
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        {
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        {
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          "exon_count": 26,
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          "intron_rank_end": null,
          "gene_symbol": "FNDC3B",
          "gene_hgnc_id": 24670,
          "hgvs_c": "c.1971+100G>A",
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          "protein_id": "ENSP00000569246.1",
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        {
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