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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: 2-127052264-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127052264&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 127052264,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_139343.3",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1362G>A",
          "hgvs_p": "p.Gly454Gly",
          "transcript": "NM_139343.3",
          "protein_id": "NP_647593.1",
          "transcript_support_level": null,
          "aa_start": 454,
          "aa_end": null,
          "aa_length": 593,
          "cds_start": 1362,
          "cds_end": null,
          "cds_length": 1782,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000316724.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_139343.3"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1362G>A",
          "hgvs_p": "p.Gly454Gly",
          "transcript": "ENST00000316724.10",
          "protein_id": "ENSP00000316779.5",
          "transcript_support_level": 1,
          "aa_start": 454,
          "aa_end": null,
          "aa_length": 593,
          "cds_start": 1362,
          "cds_end": null,
          "cds_length": 1782,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_139343.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000316724.10"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1233G>A",
          "hgvs_p": "p.Gly411Gly",
          "transcript": "ENST00000357970.7",
          "protein_id": "ENSP00000350654.3",
          "transcript_support_level": 1,
          "aa_start": 411,
          "aa_end": null,
          "aa_length": 550,
          "cds_start": 1233,
          "cds_end": null,
          "cds_length": 1653,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000357970.7"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1137G>A",
          "hgvs_p": "p.Gly379Gly",
          "transcript": "ENST00000346226.7",
          "protein_id": "ENSP00000315411.3",
          "transcript_support_level": 1,
          "aa_start": 379,
          "aa_end": null,
          "aa_length": 518,
          "cds_start": 1137,
          "cds_end": null,
          "cds_length": 1557,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000346226.7"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1101G>A",
          "hgvs_p": "p.Gly367Gly",
          "transcript": "ENST00000351659.7",
          "protein_id": "ENSP00000315388.3",
          "transcript_support_level": 1,
          "aa_start": 367,
          "aa_end": null,
          "aa_length": 506,
          "cds_start": 1101,
          "cds_end": null,
          "cds_length": 1521,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000351659.7"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1008G>A",
          "hgvs_p": "p.Gly336Gly",
          "transcript": "ENST00000393041.7",
          "protein_id": "ENSP00000376761.3",
          "transcript_support_level": 1,
          "aa_start": 336,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": 1008,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000393041.7"
        },
        {
          "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": 16,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1084-1021G>A",
          "hgvs_p": null,
          "transcript": "ENST00000259238.8",
          "protein_id": "ENSP00000259238.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000259238.8"
        },
        {
          "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": 15,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1039-1021G>A",
          "hgvs_p": null,
          "transcript": "ENST00000393040.7",
          "protein_id": "ENSP00000376760.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 482,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1449,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000393040.7"
        },
        {
          "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": 15,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.955-1021G>A",
          "hgvs_p": null,
          "transcript": "ENST00000352848.8",
          "protein_id": "ENSP00000315284.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 454,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1365,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000352848.8"
        },
        {
          "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": 14,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.910-1021G>A",
          "hgvs_p": null,
          "transcript": "ENST00000409400.1",
          "protein_id": "ENSP00000386797.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 439,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1320,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000409400.1"
        },
        {
          "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": 14,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.955-1352G>A",
          "hgvs_p": null,
          "transcript": "ENST00000376113.6",
          "protein_id": "ENSP00000365281.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 424,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1275,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000376113.6"
        },
        {
          "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": 13,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.910-1352G>A",
          "hgvs_p": null,
          "transcript": "ENST00000348750.8",
          "protein_id": "ENSP00000259237.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 409,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1230,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000348750.8"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1476G>A",
          "hgvs_p": "p.Gly492Gly",
          "transcript": "ENST00000947993.1",
          "protein_id": "ENSP00000618052.1",
          "transcript_support_level": null,
          "aa_start": 492,
          "aa_end": null,
          "aa_length": 631,
          "cds_start": 1476,
          "cds_end": null,
          "cds_length": 1896,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000947993.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1362G>A",
          "hgvs_p": "p.Gly454Gly",
          "transcript": "ENST00000948029.1",
          "protein_id": "ENSP00000618088.1",
          "transcript_support_level": null,
          "aa_start": 454,
          "aa_end": null,
          "aa_length": 618,
          "cds_start": 1362,
          "cds_end": null,
          "cds_length": 1857,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000948029.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1407G>A",
          "hgvs_p": "p.Gly469Gly",
          "transcript": "ENST00000947986.1",
          "protein_id": "ENSP00000618045.1",
          "transcript_support_level": null,
          "aa_start": 469,
          "aa_end": null,
          "aa_length": 608,
          "cds_start": 1407,
          "cds_end": null,
          "cds_length": 1827,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000947986.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1389G>A",
          "hgvs_p": "p.Gly463Gly",
          "transcript": "ENST00000948010.1",
          "protein_id": "ENSP00000618069.1",
          "transcript_support_level": null,
          "aa_start": 463,
          "aa_end": null,
          "aa_length": 602,
          "cds_start": 1389,
          "cds_end": null,
          "cds_length": 1809,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000948010.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1362G>A",
          "hgvs_p": "p.Gly454Gly",
          "transcript": "ENST00000947995.1",
          "protein_id": "ENSP00000618054.1",
          "transcript_support_level": null,
          "aa_start": 454,
          "aa_end": null,
          "aa_length": 591,
          "cds_start": 1362,
          "cds_end": null,
          "cds_length": 1776,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000947995.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1362G>A",
          "hgvs_p": "p.Gly454Gly",
          "transcript": "ENST00000948015.1",
          "protein_id": "ENSP00000618074.1",
          "transcript_support_level": null,
          "aa_start": 454,
          "aa_end": null,
          "aa_length": 587,
          "cds_start": 1362,
          "cds_end": null,
          "cds_length": 1764,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000948015.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1338G>A",
          "hgvs_p": "p.Gly446Gly",
          "transcript": "ENST00000914478.1",
          "protein_id": "ENSP00000584537.1",
          "transcript_support_level": null,
          "aa_start": 446,
          "aa_end": null,
          "aa_length": 585,
          "cds_start": 1338,
          "cds_end": null,
          "cds_length": 1758,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914478.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1332G>A",
          "hgvs_p": "p.Gly444Gly",
          "transcript": "ENST00000947989.1",
          "protein_id": "ENSP00000618048.1",
          "transcript_support_level": null,
          "aa_start": 444,
          "aa_end": null,
          "aa_length": 583,
          "cds_start": 1332,
          "cds_end": null,
          "cds_length": 1752,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000947989.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
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        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}