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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: 2-127050466-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127050466&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 127050466,
      "ref": "A",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "NM_139343.3",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1629T>G",
          "hgvs_p": "p.Ala543Ala",
          "transcript": "NM_139343.3",
          "protein_id": "NP_647593.1",
          "transcript_support_level": null,
          "aa_start": 543,
          "aa_end": null,
          "aa_length": 593,
          "cds_start": 1629,
          "cds_end": null,
          "cds_length": 1782,
          "cdna_start": 1840,
          "cdna_end": null,
          "cdna_length": 2487,
          "mane_select": "ENST00000316724.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_139343.3"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1629T>G",
          "hgvs_p": "p.Ala543Ala",
          "transcript": "ENST00000316724.10",
          "protein_id": "ENSP00000316779.5",
          "transcript_support_level": 1,
          "aa_start": 543,
          "aa_end": null,
          "aa_length": 593,
          "cds_start": 1629,
          "cds_end": null,
          "cds_length": 1782,
          "cdna_start": 1840,
          "cdna_end": null,
          "cdna_length": 2487,
          "mane_select": "NM_139343.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000316724.10"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1500T>G",
          "hgvs_p": "p.Ala500Ala",
          "transcript": "ENST00000357970.7",
          "protein_id": "ENSP00000350654.3",
          "transcript_support_level": 1,
          "aa_start": 500,
          "aa_end": null,
          "aa_length": 550,
          "cds_start": 1500,
          "cds_end": null,
          "cds_length": 1653,
          "cdna_start": 1845,
          "cdna_end": null,
          "cdna_length": 2497,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000357970.7"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1404T>G",
          "hgvs_p": "p.Ala468Ala",
          "transcript": "ENST00000346226.7",
          "protein_id": "ENSP00000315411.3",
          "transcript_support_level": 1,
          "aa_start": 468,
          "aa_end": null,
          "aa_length": 518,
          "cds_start": 1404,
          "cds_end": null,
          "cds_length": 1557,
          "cdna_start": 1749,
          "cdna_end": null,
          "cdna_length": 2401,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000346226.7"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1368T>G",
          "hgvs_p": "p.Ala456Ala",
          "transcript": "ENST00000351659.7",
          "protein_id": "ENSP00000315388.3",
          "transcript_support_level": 1,
          "aa_start": 456,
          "aa_end": null,
          "aa_length": 506,
          "cds_start": 1368,
          "cds_end": null,
          "cds_length": 1521,
          "cdna_start": 1713,
          "cdna_end": null,
          "cdna_length": 2365,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000351659.7"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1341T>G",
          "hgvs_p": "p.Ala447Ala",
          "transcript": "ENST00000259238.8",
          "protein_id": "ENSP00000259238.4",
          "transcript_support_level": 1,
          "aa_start": 447,
          "aa_end": null,
          "aa_length": 497,
          "cds_start": 1341,
          "cds_end": null,
          "cds_length": 1494,
          "cdna_start": 1686,
          "cdna_end": null,
          "cdna_length": 2338,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000259238.8"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1296T>G",
          "hgvs_p": "p.Ala432Ala",
          "transcript": "ENST00000393040.7",
          "protein_id": "ENSP00000376760.3",
          "transcript_support_level": 1,
          "aa_start": 432,
          "aa_end": null,
          "aa_length": 482,
          "cds_start": 1296,
          "cds_end": null,
          "cds_length": 1449,
          "cdna_start": 1641,
          "cdna_end": null,
          "cdna_length": 2293,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000393040.7"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1275T>G",
          "hgvs_p": "p.Ala425Ala",
          "transcript": "ENST00000393041.7",
          "protein_id": "ENSP00000376761.3",
          "transcript_support_level": 1,
          "aa_start": 425,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": 1275,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": 1620,
          "cdna_end": null,
          "cdna_length": 2272,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000393041.7"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1212T>G",
          "hgvs_p": "p.Ala404Ala",
          "transcript": "ENST00000352848.8",
          "protein_id": "ENSP00000315284.4",
          "transcript_support_level": 1,
          "aa_start": 404,
          "aa_end": null,
          "aa_length": 454,
          "cds_start": 1212,
          "cds_end": null,
          "cds_length": 1365,
          "cdna_start": 1423,
          "cdna_end": null,
          "cdna_length": 2070,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000352848.8"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1167T>G",
          "hgvs_p": "p.Ala389Ala",
          "transcript": "ENST00000409400.1",
          "protein_id": "ENSP00000386797.1",
          "transcript_support_level": 1,
          "aa_start": 389,
          "aa_end": null,
          "aa_length": 439,
          "cds_start": 1167,
          "cds_end": null,
          "cds_length": 1320,
          "cdna_start": 1502,
          "cdna_end": null,
          "cdna_length": 2143,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000409400.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1122T>G",
          "hgvs_p": "p.Ala374Ala",
          "transcript": "ENST00000376113.6",
          "protein_id": "ENSP00000365281.2",
          "transcript_support_level": 1,
          "aa_start": 374,
          "aa_end": null,
          "aa_length": 424,
          "cds_start": 1122,
          "cds_end": null,
          "cds_length": 1275,
          "cdna_start": 1180,
          "cdna_end": null,
          "cdna_length": 1832,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000376113.6"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1077T>G",
          "hgvs_p": "p.Ala359Ala",
          "transcript": "ENST00000348750.8",
          "protein_id": "ENSP00000259237.5",
          "transcript_support_level": 1,
          "aa_start": 359,
          "aa_end": null,
          "aa_length": 409,
          "cds_start": 1077,
          "cds_end": null,
          "cds_length": 1230,
          "cdna_start": 1422,
          "cdna_end": null,
          "cdna_length": 2074,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000348750.8"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1743T>G",
          "hgvs_p": "p.Ala581Ala",
          "transcript": "ENST00000947993.1",
          "protein_id": "ENSP00000618052.1",
          "transcript_support_level": null,
          "aa_start": 581,
          "aa_end": null,
          "aa_length": 631,
          "cds_start": 1743,
          "cds_end": null,
          "cds_length": 1896,
          "cdna_start": 2122,
          "cdna_end": null,
          "cdna_length": 2729,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000947993.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1629T>G",
          "hgvs_p": "p.Ala543Ala",
          "transcript": "ENST00000948029.1",
          "protein_id": "ENSP00000618088.1",
          "transcript_support_level": null,
          "aa_start": 543,
          "aa_end": null,
          "aa_length": 618,
          "cds_start": 1629,
          "cds_end": null,
          "cds_length": 1857,
          "cdna_start": 1686,
          "cdna_end": null,
          "cdna_length": 2368,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000948029.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1674T>G",
          "hgvs_p": "p.Ala558Ala",
          "transcript": "ENST00000947986.1",
          "protein_id": "ENSP00000618045.1",
          "transcript_support_level": null,
          "aa_start": 558,
          "aa_end": null,
          "aa_length": 608,
          "cds_start": 1674,
          "cds_end": null,
          "cds_length": 1827,
          "cdna_start": 2287,
          "cdna_end": null,
          "cdna_length": 2894,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000947986.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1656T>G",
          "hgvs_p": "p.Ala552Ala",
          "transcript": "ENST00000948010.1",
          "protein_id": "ENSP00000618069.1",
          "transcript_support_level": null,
          "aa_start": 552,
          "aa_end": null,
          "aa_length": 602,
          "cds_start": 1656,
          "cds_end": null,
          "cds_length": 1809,
          "cdna_start": 1918,
          "cdna_end": null,
          "cdna_length": 2525,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000948010.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1623T>G",
          "hgvs_p": "p.Ala541Ala",
          "transcript": "ENST00000947995.1",
          "protein_id": "ENSP00000618054.1",
          "transcript_support_level": null,
          "aa_start": 541,
          "aa_end": null,
          "aa_length": 591,
          "cds_start": 1623,
          "cds_end": null,
          "cds_length": 1776,
          "cdna_start": 1954,
          "cdna_end": null,
          "cdna_length": 2561,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000947995.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1611T>G",
          "hgvs_p": "p.Ala537Ala",
          "transcript": "ENST00000948015.1",
          "protein_id": "ENSP00000618074.1",
          "transcript_support_level": null,
          "aa_start": 537,
          "aa_end": null,
          "aa_length": 587,
          "cds_start": 1611,
          "cds_end": null,
          "cds_length": 1764,
          "cdna_start": 1823,
          "cdna_end": null,
          "cdna_length": 2430,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000948015.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1605T>G",
          "hgvs_p": "p.Ala535Ala",
          "transcript": "ENST00000914478.1",
          "protein_id": "ENSP00000584537.1",
          "transcript_support_level": null,
          "aa_start": 535,
          "aa_end": null,
          "aa_length": 585,
          "cds_start": 1605,
          "cds_end": null,
          "cds_length": 1758,
          "cdna_start": 1970,
          "cdna_end": null,
          "cdna_length": 2577,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914478.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BIN1",
          "gene_hgnc_id": 1052,
          "hgvs_c": "c.1599T>G",
          "hgvs_p": "p.Ala533Ala",
          "transcript": "ENST00000947989.1",
          "protein_id": "ENSP00000618048.1",
          "transcript_support_level": null,
          "aa_start": 533,
          "aa_end": null,
          "aa_length": 583,
          "cds_start": 1599,
          "cds_end": null,
          "cds_length": 1752,
          "cdna_start": 2001,
          "cdna_end": null,
          "cdna_length": 2608,
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      "gnomad_exomes_af": 0.0000335185,
      "gnomad_genomes_af": 0.000367724,
      "gnomad_exomes_ac": 49,
      "gnomad_genomes_ac": 56,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.699999988079071,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.7,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.828,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -10,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6,BP7,BS1",
      "acmg_by_gene": [
        {
          "score": -10,
          "benign_score": 10,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6",
            "BP7",
            "BS1"
          ],
          "verdict": "Benign",
          "transcript": "NM_139343.3",
          "gene_symbol": "BIN1",
          "hgnc_id": 1052,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR,AD,SD",
          "hgvs_c": "c.1629T>G",
          "hgvs_p": "p.Ala543Ala"
        }
      ],
      "clinvar_disease": " 2, centronuclear,Myopathy",
      "clinvar_classification": "Conflicting classifications of pathogenicity",
      "clinvar_review_status": "criteria provided, conflicting classifications",
      "clinvar_submissions_summary": "US:1 LB:1",
      "phenotype_combined": "Myopathy, centronuclear, 2",
      "pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
      "custom_annotations": null
    }
  ],
  "message": null
}
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