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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: 10-48602322-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=48602322&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 48602322,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000249601.9",
      "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP22",
          "gene_hgnc_id": 30320,
          "hgvs_c": "c.34+2441C>T",
          "hgvs_p": null,
          "transcript": "NM_021226.4",
          "protein_id": "NP_067049.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 698,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2097,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2729,
          "mane_select": "ENST00000249601.9",
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP22",
          "gene_hgnc_id": 30320,
          "hgvs_c": "c.34+2441C>T",
          "hgvs_p": null,
          "transcript": "ENST00000249601.9",
          "protein_id": "ENSP00000249601.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 698,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2097,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2729,
          "mane_select": "NM_021226.4",
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP22",
          "gene_hgnc_id": 30320,
          "hgvs_c": "c.34+2441C>T",
          "hgvs_p": null,
          "transcript": "ENST00000417912.6",
          "protein_id": "ENSP00000412461.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 714,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2145,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2352,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP22",
          "gene_hgnc_id": 30320,
          "hgvs_c": "c.34+2441C>T",
          "hgvs_p": null,
          "transcript": "NM_001256024.2",
          "protein_id": "NP_001242953.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 714,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2145,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2777,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP22",
          "gene_hgnc_id": 30320,
          "hgvs_c": "c.53-19170C>T",
          "hgvs_p": null,
          "transcript": "NM_001256025.3",
          "protein_id": "NP_001242954.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 704,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2115,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2687,
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP22",
          "gene_hgnc_id": 30320,
          "hgvs_c": "c.53-19170C>T",
          "hgvs_p": null,
          "transcript": "NM_001347738.2",
          "protein_id": "NP_001334667.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 704,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2115,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2822,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP22",
          "gene_hgnc_id": 30320,
          "hgvs_c": "c.53-19170C>T",
          "hgvs_p": null,
          "transcript": "ENST00000435790.6",
          "protein_id": "ENSP00000416701.2",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 704,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2115,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2595,
          "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": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP22",
          "gene_hgnc_id": 30320,
          "hgvs_c": "c.34+2441C>T",
          "hgvs_p": null,
          "transcript": "NM_001347735.2",
          "protein_id": "NP_001334664.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 655,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1968,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2600,
          "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": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ARHGAP22",
          "gene_hgnc_id": 30320,
          "hgvs_c": "c.53-19170C>T",
          "hgvs_p": null,
          "transcript": "NM_001347736.2",
          "protein_id": "NP_001334665.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 87,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "strand": false,
          "consequences": [
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          "exon_rank": null,
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          "exon_count": 3,
          "intron_rank": 1,
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          "gene_symbol": "ARHGAP22",
          "gene_hgnc_id": 30320,
          "hgvs_c": "c.34+2441C>T",
          "hgvs_p": null,
          "transcript": "NM_001347737.2",
          "protein_id": "NP_001334666.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "gene_symbol": "ARHGAP22",
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          "transcript": "ENST00000460425.1",
          "protein_id": "ENSP00000422663.1",
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        {
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          "hgvs_c": "n.193+2441C>T",
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        {
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          "gene_symbol": "ARHGAP22",
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          "gene_symbol": "ARHGAP22",
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          "transcript": "XM_011540002.3",
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