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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: 21-32631493-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=32631493&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "21",
      "pos": 32631493,
      "ref": "G",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_003895.4",
      "consequences": [
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4083C>G",
          "hgvs_p": "p.Asp1361Glu",
          "transcript": "ENST00000630077.3",
          "protein_id": "ENSP00000487560.1",
          "transcript_support_level": 1,
          "aa_start": 1361,
          "aa_end": null,
          "aa_length": 1526,
          "cds_start": 4083,
          "cds_end": null,
          "cds_length": 4581,
          "cdna_start": 4190,
          "cdna_end": null,
          "cdna_length": 6920,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000630077.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.*312C>G",
          "hgvs_p": null,
          "transcript": "NM_203446.3",
          "protein_id": "NP_982271.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1311,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3936,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7068,
          "mane_select": "ENST00000674351.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_203446.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.*312C>G",
          "hgvs_p": null,
          "transcript": "ENST00000674351.1",
          "protein_id": "ENSP00000501530.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1311,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3936,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7068,
          "mane_select": "NM_203446.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000674351.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4341C>G",
          "hgvs_p": "p.Asp1447Glu",
          "transcript": "NM_003895.4",
          "protein_id": "NP_003886.3",
          "transcript_support_level": null,
          "aa_start": 1447,
          "aa_end": null,
          "aa_length": 1612,
          "cds_start": 4341,
          "cds_end": null,
          "cds_length": 4839,
          "cdna_start": 4695,
          "cdna_end": null,
          "cdna_length": 7425,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_003895.4"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4224C>G",
          "hgvs_p": "p.Asp1408Glu",
          "transcript": "ENST00000674308.1",
          "protein_id": "ENSP00000501426.1",
          "transcript_support_level": null,
          "aa_start": 1408,
          "aa_end": null,
          "aa_length": 1573,
          "cds_start": 4224,
          "cds_end": null,
          "cds_length": 4722,
          "cdna_start": 4314,
          "cdna_end": null,
          "cdna_length": 7044,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000674308.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4083C>G",
          "hgvs_p": "p.Asp1361Glu",
          "transcript": "NM_001160306.2",
          "protein_id": "NP_001153778.1",
          "transcript_support_level": null,
          "aa_start": 1361,
          "aa_end": null,
          "aa_length": 1526,
          "cds_start": 4083,
          "cds_end": null,
          "cds_length": 4581,
          "cdna_start": 4190,
          "cdna_end": null,
          "cdna_length": 6920,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001160306.2"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4326C>G",
          "hgvs_p": "p.Asp1442Glu",
          "transcript": "XM_017028495.3",
          "protein_id": "XP_016883984.1",
          "transcript_support_level": null,
          "aa_start": 1442,
          "aa_end": null,
          "aa_length": 1607,
          "cds_start": 4326,
          "cds_end": null,
          "cds_length": 4824,
          "cdna_start": 4326,
          "cdna_end": null,
          "cdna_length": 7060,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017028495.3"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4302C>G",
          "hgvs_p": "p.Asp1434Glu",
          "transcript": "XM_047441034.1",
          "protein_id": "XP_047296990.1",
          "transcript_support_level": null,
          "aa_start": 1434,
          "aa_end": null,
          "aa_length": 1599,
          "cds_start": 4302,
          "cds_end": null,
          "cds_length": 4800,
          "cdna_start": 4302,
          "cdna_end": null,
          "cdna_length": 7036,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047441034.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4293C>G",
          "hgvs_p": "p.Asp1431Glu",
          "transcript": "XM_017028497.3",
          "protein_id": "XP_016883986.1",
          "transcript_support_level": null,
          "aa_start": 1431,
          "aa_end": null,
          "aa_length": 1596,
          "cds_start": 4293,
          "cds_end": null,
          "cds_length": 4791,
          "cdna_start": 4293,
          "cdna_end": null,
          "cdna_length": 7027,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017028497.3"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4263C>G",
          "hgvs_p": "p.Asp1421Glu",
          "transcript": "XM_047441035.1",
          "protein_id": "XP_047296991.1",
          "transcript_support_level": null,
          "aa_start": 1421,
          "aa_end": null,
          "aa_length": 1586,
          "cds_start": 4263,
          "cds_end": null,
          "cds_length": 4761,
          "cdna_start": 4263,
          "cdna_end": null,
          "cdna_length": 6997,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047441035.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4239C>G",
          "hgvs_p": "p.Asp1413Glu",
          "transcript": "XM_047441036.1",
          "protein_id": "XP_047296992.1",
          "transcript_support_level": null,
          "aa_start": 1413,
          "aa_end": null,
          "aa_length": 1578,
          "cds_start": 4239,
          "cds_end": null,
          "cds_length": 4737,
          "cdna_start": 4239,
          "cdna_end": null,
          "cdna_length": 6973,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047441036.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4224C>G",
          "hgvs_p": "p.Asp1408Glu",
          "transcript": "XM_047441037.1",
          "protein_id": "XP_047296993.1",
          "transcript_support_level": null,
          "aa_start": 1408,
          "aa_end": null,
          "aa_length": 1573,
          "cds_start": 4224,
          "cds_end": null,
          "cds_length": 4722,
          "cdna_start": 4224,
          "cdna_end": null,
          "cdna_length": 6958,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047441037.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4200C>G",
          "hgvs_p": "p.Asp1400Glu",
          "transcript": "XM_017028499.3",
          "protein_id": "XP_016883988.1",
          "transcript_support_level": null,
          "aa_start": 1400,
          "aa_end": null,
          "aa_length": 1565,
          "cds_start": 4200,
          "cds_end": null,
          "cds_length": 4698,
          "cdna_start": 4200,
          "cdna_end": null,
          "cdna_length": 6934,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017028499.3"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4191C>G",
          "hgvs_p": "p.Asp1397Glu",
          "transcript": "XM_047441038.1",
          "protein_id": "XP_047296994.1",
          "transcript_support_level": null,
          "aa_start": 1397,
          "aa_end": null,
          "aa_length": 1562,
          "cds_start": 4191,
          "cds_end": null,
          "cds_length": 4689,
          "cdna_start": 4191,
          "cdna_end": null,
          "cdna_length": 6925,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047441038.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4122C>G",
          "hgvs_p": "p.Asp1374Glu",
          "transcript": "XM_047441039.1",
          "protein_id": "XP_047296995.1",
          "transcript_support_level": null,
          "aa_start": 1374,
          "aa_end": null,
          "aa_length": 1539,
          "cds_start": 4122,
          "cds_end": null,
          "cds_length": 4620,
          "cdna_start": 4247,
          "cdna_end": null,
          "cdna_length": 6981,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047441039.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.4107C>G",
          "hgvs_p": "p.Asp1369Glu",
          "transcript": "XM_047441040.1",
          "protein_id": "XP_047296996.1",
          "transcript_support_level": null,
          "aa_start": 1369,
          "aa_end": null,
          "aa_length": 1534,
          "cds_start": 4107,
          "cds_end": null,
          "cds_length": 4605,
          "cdna_start": 4232,
          "cdna_end": null,
          "cdna_length": 6966,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047441040.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3729C>G",
          "hgvs_p": "p.Asp1243Glu",
          "transcript": "XM_047441041.1",
          "protein_id": "XP_047296997.1",
          "transcript_support_level": null,
          "aa_start": 1243,
          "aa_end": null,
          "aa_length": 1408,
          "cds_start": 3729,
          "cds_end": null,
          "cds_length": 4227,
          "cdna_start": 3822,
          "cdna_end": null,
          "cdna_length": 6556,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047441041.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.*312C>G",
          "hgvs_p": null,
          "transcript": "ENST00000674204.1",
          "protein_id": "ENSP00000501504.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1311,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3936,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7085,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000674204.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.*312C>G",
          "hgvs_p": null,
          "transcript": "NM_001160302.2",
          "protein_id": "NP_001153774.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1295,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3888,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7037,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001160302.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.*312C>G",
          "hgvs_p": null,
          "transcript": "ENST00000357345.8",
          "protein_id": "ENSP00000349903.3",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1295,
          "cds_start": null,
          "cds_end": null,
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}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.