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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: 2-127048553-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127048553&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 127048553,
      "ref": "G",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "NM_139343.3",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1755C>G",
          "hgvs_p": "p.Pro585Pro",
          "transcript": "NM_139343.3",
          "protein_id": "NP_647593.1",
          "transcript_support_level": null,
          "aa_start": 585,
          "aa_end": null,
          "aa_length": 593,
          "cds_start": 1755,
          "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": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1755C>G",
          "hgvs_p": "p.Pro585Pro",
          "transcript": "ENST00000316724.10",
          "protein_id": "ENSP00000316779.5",
          "transcript_support_level": 1,
          "aa_start": 585,
          "aa_end": null,
          "aa_length": 593,
          "cds_start": 1755,
          "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": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1626C>G",
          "hgvs_p": "p.Pro542Pro",
          "transcript": "ENST00000357970.7",
          "protein_id": "ENSP00000350654.3",
          "transcript_support_level": 1,
          "aa_start": 542,
          "aa_end": null,
          "aa_length": 550,
          "cds_start": 1626,
          "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": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1530C>G",
          "hgvs_p": "p.Pro510Pro",
          "transcript": "ENST00000346226.7",
          "protein_id": "ENSP00000315411.3",
          "transcript_support_level": 1,
          "aa_start": 510,
          "aa_end": null,
          "aa_length": 518,
          "cds_start": 1530,
          "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": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1494C>G",
          "hgvs_p": "p.Pro498Pro",
          "transcript": "ENST00000351659.7",
          "protein_id": "ENSP00000315388.3",
          "transcript_support_level": 1,
          "aa_start": 498,
          "aa_end": null,
          "aa_length": 506,
          "cds_start": 1494,
          "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": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1467C>G",
          "hgvs_p": "p.Pro489Pro",
          "transcript": "ENST00000259238.8",
          "protein_id": "ENSP00000259238.4",
          "transcript_support_level": 1,
          "aa_start": 489,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 1467,
          "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": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1422C>G",
          "hgvs_p": "p.Pro474Pro",
          "transcript": "ENST00000393040.7",
          "protein_id": "ENSP00000376760.3",
          "transcript_support_level": 1,
          "aa_start": 474,
          "aa_end": null,
          "aa_length": 482,
          "cds_start": 1422,
          "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": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1401C>G",
          "hgvs_p": "p.Pro467Pro",
          "transcript": "ENST00000393041.7",
          "protein_id": "ENSP00000376761.3",
          "transcript_support_level": 1,
          "aa_start": 467,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": 1401,
          "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": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1338C>G",
          "hgvs_p": "p.Pro446Pro",
          "transcript": "ENST00000352848.8",
          "protein_id": "ENSP00000315284.4",
          "transcript_support_level": 1,
          "aa_start": 446,
          "aa_end": null,
          "aa_length": 454,
          "cds_start": 1338,
          "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": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1293C>G",
          "hgvs_p": "p.Pro431Pro",
          "transcript": "ENST00000409400.1",
          "protein_id": "ENSP00000386797.1",
          "transcript_support_level": 1,
          "aa_start": 431,
          "aa_end": null,
          "aa_length": 439,
          "cds_start": 1293,
          "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": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1248C>G",
          "hgvs_p": "p.Pro416Pro",
          "transcript": "ENST00000376113.6",
          "protein_id": "ENSP00000365281.2",
          "transcript_support_level": 1,
          "aa_start": 416,
          "aa_end": null,
          "aa_length": 424,
          "cds_start": 1248,
          "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": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1203C>G",
          "hgvs_p": "p.Pro401Pro",
          "transcript": "ENST00000348750.8",
          "protein_id": "ENSP00000259237.5",
          "transcript_support_level": 1,
          "aa_start": 401,
          "aa_end": null,
          "aa_length": 409,
          "cds_start": 1203,
          "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": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1869C>G",
          "hgvs_p": "p.Pro623Pro",
          "transcript": "ENST00000947993.1",
          "protein_id": "ENSP00000618052.1",
          "transcript_support_level": null,
          "aa_start": 623,
          "aa_end": null,
          "aa_length": 631,
          "cds_start": 1869,
          "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": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1830C>G",
          "hgvs_p": "p.Pro610Pro",
          "transcript": "ENST00000948029.1",
          "protein_id": "ENSP00000618088.1",
          "transcript_support_level": null,
          "aa_start": 610,
          "aa_end": null,
          "aa_length": 618,
          "cds_start": 1830,
          "cds_end": null,
          "cds_length": 1857,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000948029.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1800C>G",
          "hgvs_p": "p.Pro600Pro",
          "transcript": "ENST00000947986.1",
          "protein_id": "ENSP00000618045.1",
          "transcript_support_level": null,
          "aa_start": 600,
          "aa_end": null,
          "aa_length": 608,
          "cds_start": 1800,
          "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": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1782C>G",
          "hgvs_p": "p.Pro594Pro",
          "transcript": "ENST00000948010.1",
          "protein_id": "ENSP00000618069.1",
          "transcript_support_level": null,
          "aa_start": 594,
          "aa_end": null,
          "aa_length": 602,
          "cds_start": 1782,
          "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": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1749C>G",
          "hgvs_p": "p.Pro583Pro",
          "transcript": "ENST00000947995.1",
          "protein_id": "ENSP00000618054.1",
          "transcript_support_level": null,
          "aa_start": 583,
          "aa_end": null,
          "aa_length": 591,
          "cds_start": 1749,
          "cds_end": null,
          "cds_length": 1776,
          "cdna_start": null,
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          "cdna_length": null,
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          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000947995.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1737C>G",
          "hgvs_p": "p.Pro579Pro",
          "transcript": "ENST00000948015.1",
          "protein_id": "ENSP00000618074.1",
          "transcript_support_level": null,
          "aa_start": 579,
          "aa_end": null,
          "aa_length": 587,
          "cds_start": 1737,
          "cds_end": null,
          "cds_length": 1764,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000948015.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1731C>G",
          "hgvs_p": "p.Pro577Pro",
          "transcript": "ENST00000914478.1",
          "protein_id": "ENSP00000584537.1",
          "transcript_support_level": null,
          "aa_start": 577,
          "aa_end": null,
          "aa_length": 585,
          "cds_start": 1731,
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          "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": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1725C>G",
          "hgvs_p": "p.Pro575Pro",
          "transcript": "ENST00000947989.1",
          "protein_id": "ENSP00000618048.1",
          "transcript_support_level": null,
          "aa_start": 575,
          "aa_end": null,
          "aa_length": 583,
          "cds_start": 1725,
          "cds_end": null,
          "cds_length": 1752,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
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