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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: 10-95451979-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=95451979&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 95451979,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "NM_001384452.1",
      "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": 33,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SORBS1",
          "gene_hgnc_id": 14565,
          "hgvs_c": "c.-45-10799G>A",
          "hgvs_p": null,
          "transcript": "NM_001034954.3",
          "protein_id": "NP_001030126.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1292,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3879,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000371247.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001034954.3"
        },
        {
          "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": 33,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SORBS1",
          "gene_hgnc_id": 14565,
          "hgvs_c": "c.-45-10799G>A",
          "hgvs_p": null,
          "transcript": "ENST00000371247.7",
          "protein_id": "ENSP00000360293.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1292,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3879,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001034954.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000371247.7"
        },
        {
          "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": 32,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SORBS1",
          "gene_hgnc_id": 14565,
          "hgvs_c": "c.-45-10799G>A",
          "hgvs_p": null,
          "transcript": "ENST00000371227.8",
          "protein_id": "ENSP00000360271.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1266,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3801,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000371227.8"
        },
        {
          "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": 25,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SORBS1",
          "gene_hgnc_id": 14565,
          "hgvs_c": "c.-45-10799G>A",
          "hgvs_p": null,
          "transcript": "ENST00000371249.6",
          "protein_id": "ENSP00000360295.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 816,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2451,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000371249.6"
        },
        {
          "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": 26,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SORBS1",
          "gene_hgnc_id": 14565,
          "hgvs_c": "c.-45-10799G>A",
          "hgvs_p": null,
          "transcript": "ENST00000306402.10",
          "protein_id": "ENSP00000302556.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 781,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2346,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000306402.10"
        },
        {
          "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": 31,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SORBS1",
          "gene_hgnc_id": 14565,
          "hgvs_c": "c.-45-10799G>A",
          "hgvs_p": null,
          "transcript": "ENST00000954445.1",
          "protein_id": "ENSP00000624504.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1671,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5016,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000954445.1"
        },
        {
          "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": 30,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SORBS1",
          "gene_hgnc_id": 14565,
          "hgvs_c": "c.-45-10799G>A",
          "hgvs_p": null,
          "transcript": "NM_001384452.1",
          "protein_id": "NP_001371381.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1628,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4887,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001384452.1"
        },
        {
          "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": 29,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SORBS1",
          "gene_hgnc_id": 14565,
          "hgvs_c": "c.-45-10799G>A",
          "hgvs_p": null,
          "transcript": "NM_001384448.1",
          "protein_id": "NP_001371377.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1619,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4860,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001384448.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 29,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SORBS1",
          "gene_hgnc_id": 14565,
          "hgvs_c": "c.-45-10799G>A",
          "hgvs_p": null,
          "transcript": "ENST00000649575.2",
          "protein_id": "ENSP00000497106.2",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 1619,
          "cds_start": null,
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          "cds_length": 4860,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SORBS1",
          "gene_hgnc_id": 14565,
          "hgvs_c": "c.-45-10799G>A",
          "hgvs_p": null,
          "transcript": "NM_001384447.1",
          "protein_id": "NP_001371376.1",
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          "aa_start": null,
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          "cds_start": null,
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          "gene_symbol": "SORBS1",
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          "transcript": "NM_001384449.1",
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          "cds_start": null,
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}