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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: 5-95464616-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=95464616&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 95464616,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_014639.4",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "c.4686C>T",
          "hgvs_p": "p.Ser1562Ser",
          "transcript": "NM_014639.4",
          "protein_id": "NP_055454.1",
          "transcript_support_level": null,
          "aa_start": 1562,
          "aa_end": null,
          "aa_length": 1564,
          "cds_start": 4686,
          "cds_end": null,
          "cds_length": 4695,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000358746.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_014639.4"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "c.4686C>T",
          "hgvs_p": "p.Ser1562Ser",
          "transcript": "ENST00000358746.7",
          "protein_id": "ENSP00000351596.3",
          "transcript_support_level": 1,
          "aa_start": 1562,
          "aa_end": null,
          "aa_length": 1564,
          "cds_start": 4686,
          "cds_end": null,
          "cds_length": 4695,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_014639.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000358746.7"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "c.4743C>T",
          "hgvs_p": "p.Ser1581Ser",
          "transcript": "ENST00000969289.1",
          "protein_id": "ENSP00000639348.1",
          "transcript_support_level": null,
          "aa_start": 1581,
          "aa_end": null,
          "aa_length": 1583,
          "cds_start": 4743,
          "cds_end": null,
          "cds_length": 4752,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000969289.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 44,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "c.4728C>T",
          "hgvs_p": "p.Ser1576Ser",
          "transcript": "ENST00000698479.1",
          "protein_id": "ENSP00000513748.1",
          "transcript_support_level": null,
          "aa_start": 1576,
          "aa_end": null,
          "aa_length": 1578,
          "cds_start": 4728,
          "cds_end": null,
          "cds_length": 4737,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000698479.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "c.4704C>T",
          "hgvs_p": "p.Ser1568Ser",
          "transcript": "ENST00000918735.1",
          "protein_id": "ENSP00000588794.1",
          "transcript_support_level": null,
          "aa_start": 1568,
          "aa_end": null,
          "aa_length": 1570,
          "cds_start": 4704,
          "cds_end": null,
          "cds_length": 4713,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000918735.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 44,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "c.4686C>T",
          "hgvs_p": "p.Ser1562Ser",
          "transcript": "ENST00000649566.1",
          "protein_id": "ENSP00000497948.1",
          "transcript_support_level": null,
          "aa_start": 1562,
          "aa_end": null,
          "aa_length": 1564,
          "cds_start": 4686,
          "cds_end": null,
          "cds_length": 4695,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000649566.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "c.4686C>T",
          "hgvs_p": "p.Ser1562Ser",
          "transcript": "ENST00000901193.1",
          "protein_id": "ENSP00000571252.1",
          "transcript_support_level": null,
          "aa_start": 1562,
          "aa_end": null,
          "aa_length": 1564,
          "cds_start": 4686,
          "cds_end": null,
          "cds_length": 4695,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000901193.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "c.4686C>T",
          "hgvs_p": "p.Ser1562Ser",
          "transcript": "ENST00000918736.1",
          "protein_id": "ENSP00000588795.1",
          "transcript_support_level": null,
          "aa_start": 1562,
          "aa_end": null,
          "aa_length": 1564,
          "cds_start": 4686,
          "cds_end": null,
          "cds_length": 4695,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000918736.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 44,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "c.4686C>T",
          "hgvs_p": "p.Ser1562Ser",
          "transcript": "ENST00000918737.1",
          "protein_id": "ENSP00000588796.1",
          "transcript_support_level": null,
          "aa_start": 1562,
          "aa_end": null,
          "aa_length": 1564,
          "cds_start": 4686,
          "cds_end": null,
          "cds_length": 4695,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000918737.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "c.4686C>T",
          "hgvs_p": "p.Ser1562Ser",
          "transcript": "ENST00000969290.1",
          "protein_id": "ENSP00000639349.1",
          "transcript_support_level": null,
          "aa_start": 1562,
          "aa_end": null,
          "aa_length": 1564,
          "cds_start": 4686,
          "cds_end": null,
          "cds_length": 4695,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000969290.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "c.4683C>T",
          "hgvs_p": "p.Ser1561Ser",
          "transcript": "ENST00000901192.1",
          "protein_id": "ENSP00000571251.1",
          "transcript_support_level": null,
          "aa_start": 1561,
          "aa_end": null,
          "aa_length": 1563,
          "cds_start": 4683,
          "cds_end": null,
          "cds_length": 4692,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000901192.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "c.4680C>T",
          "hgvs_p": "p.Ser1560Ser",
          "transcript": "ENST00000698487.1",
          "protein_id": "ENSP00000513753.1",
          "transcript_support_level": null,
          "aa_start": 1560,
          "aa_end": null,
          "aa_length": 1562,
          "cds_start": 4680,
          "cds_end": null,
          "cds_length": 4689,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000698487.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "c.4677C>T",
          "hgvs_p": "p.Ser1559Ser",
          "transcript": "ENST00000698454.1",
          "protein_id": "ENSP00000513736.1",
          "transcript_support_level": null,
          "aa_start": 1559,
          "aa_end": null,
          "aa_length": 1561,
          "cds_start": 4677,
          "cds_end": null,
          "cds_length": 4686,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000698454.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "c.4677C>T",
          "hgvs_p": "p.Ser1559Ser",
          "transcript": "ENST00000698490.1",
          "protein_id": "ENSP00000513755.1",
          "transcript_support_level": null,
          "aa_start": 1559,
          "aa_end": null,
          "aa_length": 1561,
          "cds_start": 4677,
          "cds_end": null,
          "cds_length": 4686,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000698490.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "c.4545C>T",
          "hgvs_p": "p.Ser1515Ser",
          "transcript": "ENST00000969288.1",
          "protein_id": "ENSP00000639347.1",
          "transcript_support_level": null,
          "aa_start": 1515,
          "aa_end": null,
          "aa_length": 1517,
          "cds_start": 4545,
          "cds_end": null,
          "cds_length": 4554,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000969288.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "c.4476C>T",
          "hgvs_p": "p.Ser1492Ser",
          "transcript": "ENST00000698457.1",
          "protein_id": "ENSP00000513739.1",
          "transcript_support_level": null,
          "aa_start": 1492,
          "aa_end": null,
          "aa_length": 1494,
          "cds_start": 4476,
          "cds_end": null,
          "cds_length": 4485,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000698457.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "c.4338C>T",
          "hgvs_p": "p.Ser1446Ser",
          "transcript": "ENST00000969287.1",
          "protein_id": "ENSP00000639346.1",
          "transcript_support_level": null,
          "aa_start": 1446,
          "aa_end": null,
          "aa_length": 1448,
          "cds_start": 4338,
          "cds_end": null,
          "cds_length": 4347,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000969287.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "c.4686C>T",
          "hgvs_p": "p.Ser1562Ser",
          "transcript": "XM_047417937.1",
          "protein_id": "XP_047273893.1",
          "transcript_support_level": null,
          "aa_start": 1562,
          "aa_end": null,
          "aa_length": 1564,
          "cds_start": 4686,
          "cds_end": null,
          "cds_length": 4695,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047417937.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 40,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "n.6178C>T",
          "hgvs_p": null,
          "transcript": "ENST00000506007.2",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": "retained_intron",
          "feature": "ENST00000506007.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 40,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SKIC3",
          "gene_hgnc_id": 23639,
          "hgvs_c": "n.*3509C>T",
          "hgvs_p": null,
          "transcript": "ENST00000513232.2",
          "protein_id": "ENSP00000422749.2",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
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}