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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: 19-53577745-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=53577745&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "19",
      "pos": 53577745,
      "ref": "A",
      "alt": "G",
      "effect": "synonymous_variant",
      "transcript": "NM_018555.6",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF331",
          "gene_hgnc_id": 15489,
          "hgvs_c": "c.1185A>G",
          "hgvs_p": "p.Gly395Gly",
          "transcript": "NM_001079906.2",
          "protein_id": "NP_001073375.1",
          "transcript_support_level": null,
          "aa_start": 395,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 1185,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000449416.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001079906.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF331",
          "gene_hgnc_id": 15489,
          "hgvs_c": "c.1185A>G",
          "hgvs_p": "p.Gly395Gly",
          "transcript": "ENST00000449416.6",
          "protein_id": "ENSP00000393817.1",
          "transcript_support_level": 5,
          "aa_start": 395,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 1185,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001079906.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000449416.6"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF331",
          "gene_hgnc_id": 15489,
          "hgvs_c": "c.1185A>G",
          "hgvs_p": "p.Gly395Gly",
          "transcript": "ENST00000253144.13",
          "protein_id": "ENSP00000253144.9",
          "transcript_support_level": 1,
          "aa_start": 395,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 1185,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000253144.13"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF331",
          "gene_hgnc_id": 15489,
          "hgvs_c": "c.1185A>G",
          "hgvs_p": "p.Gly395Gly",
          "transcript": "ENST00000504493.6",
          "protein_id": "ENSP00000425517.2",
          "transcript_support_level": 1,
          "aa_start": 395,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 1185,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000504493.6"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF331",
          "gene_hgnc_id": 15489,
          "hgvs_c": "c.1185A>G",
          "hgvs_p": "p.Gly395Gly",
          "transcript": "ENST00000511154.5",
          "protein_id": "ENSP00000421014.1",
          "transcript_support_level": 1,
          "aa_start": 395,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 1185,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000511154.5"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF331",
          "gene_hgnc_id": 15489,
          "hgvs_c": "c.1185A>G",
          "hgvs_p": "p.Gly395Gly",
          "transcript": "ENST00000512387.6",
          "protein_id": "ENSP00000421728.1",
          "transcript_support_level": 1,
          "aa_start": 395,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 1185,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000512387.6"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF331",
          "gene_hgnc_id": 15489,
          "hgvs_c": "c.1185A>G",
          "hgvs_p": "p.Gly395Gly",
          "transcript": "ENST00000513999.5",
          "protein_id": "ENSP00000423156.1",
          "transcript_support_level": 1,
          "aa_start": 395,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 1185,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000513999.5"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF331",
          "gene_hgnc_id": 15489,
          "hgvs_c": "c.1185A>G",
          "hgvs_p": "p.Gly395Gly",
          "transcript": "NM_001079907.1",
          "protein_id": "NP_001073376.1",
          "transcript_support_level": null,
          "aa_start": 395,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 1185,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001079907.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF331",
          "gene_hgnc_id": 15489,
          "hgvs_c": "c.1185A>G",
          "hgvs_p": "p.Gly395Gly",
          "transcript": "NM_001253798.2",
          "protein_id": "NP_001240727.1",
          "transcript_support_level": null,
          "aa_start": 395,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 1185,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001253798.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF331",
          "gene_hgnc_id": 15489,
          "hgvs_c": "c.1185A>G",
          "hgvs_p": "p.Gly395Gly",
          "transcript": "NM_001253799.2",
          "protein_id": "NP_001240728.1",
          "transcript_support_level": null,
          "aa_start": 395,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 1185,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001253799.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF331",
          "gene_hgnc_id": 15489,
          "hgvs_c": "c.1185A>G",
          "hgvs_p": "p.Gly395Gly",
          "transcript": "NM_001253800.3",
          "protein_id": "NP_001240729.1",
          "transcript_support_level": null,
          "aa_start": 395,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 1185,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001253800.3"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF331",
          "gene_hgnc_id": 15489,
          "hgvs_c": "c.1185A>G",
          "hgvs_p": "p.Gly395Gly",
          "transcript": "NM_001253801.2",
          "protein_id": "NP_001240730.1",
          "transcript_support_level": null,
          "aa_start": 395,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 1185,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001253801.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF331",
          "gene_hgnc_id": 15489,
          "hgvs_c": "c.1185A>G",
          "hgvs_p": "p.Gly395Gly",
          "transcript": "NM_001317113.2",
          "protein_id": "NP_001304042.1",
          "transcript_support_level": null,
          "aa_start": 395,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 1185,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001317113.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF331",
          "gene_hgnc_id": 15489,
          "hgvs_c": "c.1185A>G",
          "hgvs_p": "p.Gly395Gly",
          "transcript": "NM_001317114.2",
          "protein_id": "NP_001304043.1",
          "transcript_support_level": null,
          "aa_start": 395,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 1185,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001317114.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF331",
          "gene_hgnc_id": 15489,
          "hgvs_c": "c.1185A>G",
          "hgvs_p": "p.Gly395Gly",
          "transcript": "NM_001317115.2",
          "protein_id": "NP_001304044.1",
          "transcript_support_level": null,
          "aa_start": 395,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 1185,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001317115.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF331",
          "gene_hgnc_id": 15489,
          "hgvs_c": "c.1185A>G",
          "hgvs_p": "p.Gly395Gly",
          "transcript": "NM_001317116.2",
          "protein_id": "NP_001304045.1",
          "transcript_support_level": null,
          "aa_start": 395,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 1185,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001317116.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF331",
          "gene_hgnc_id": 15489,
          "hgvs_c": "c.1185A>G",
          "hgvs_p": "p.Gly395Gly",
          "transcript": "NM_001317117.1",
          "protein_id": "NP_001304046.1",
          "transcript_support_level": null,
          "aa_start": 395,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 1185,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001317117.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF331",
          "gene_hgnc_id": 15489,
          "hgvs_c": "c.1185A>G",
          "hgvs_p": "p.Gly395Gly",
          "transcript": "NM_001317118.1",
          "protein_id": "NP_001304047.1",
          "transcript_support_level": null,
          "aa_start": 395,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 1185,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001317118.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF331",
          "gene_hgnc_id": 15489,
          "hgvs_c": "c.1185A>G",
          "hgvs_p": "p.Gly395Gly",
          "transcript": "NM_001317119.1",
          "protein_id": "NP_001304048.1",
          "transcript_support_level": null,
          "aa_start": 395,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 1185,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001317119.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF331",
          "gene_hgnc_id": 15489,
          "hgvs_c": "c.1185A>G",
          "hgvs_p": "p.Gly395Gly",
          "transcript": "NM_001317120.2",
          "protein_id": "NP_001304049.1",
          "transcript_support_level": null,
          "aa_start": 395,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 1185,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
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          "hgvs_c": "n.376-17006T>C",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}