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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: 11-86277075-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=86277075&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 86277075,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_001308007.2",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EED",
          "gene_hgnc_id": 3188,
          "hgvs_c": "c.1062G>A",
          "hgvs_p": "p.Gly354Gly",
          "transcript": "NM_003797.5",
          "protein_id": "NP_003788.2",
          "transcript_support_level": null,
          "aa_start": 354,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 1062,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000263360.11",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_003797.5"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EED",
          "gene_hgnc_id": 3188,
          "hgvs_c": "c.1062G>A",
          "hgvs_p": "p.Gly354Gly",
          "transcript": "ENST00000263360.11",
          "protein_id": "ENSP00000263360.6",
          "transcript_support_level": 1,
          "aa_start": 354,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 1062,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_003797.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000263360.11"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EED",
          "gene_hgnc_id": 3188,
          "hgvs_c": "c.1137G>A",
          "hgvs_p": "p.Gly379Gly",
          "transcript": "ENST00000351625.10",
          "protein_id": "ENSP00000338186.5",
          "transcript_support_level": 1,
          "aa_start": 379,
          "aa_end": null,
          "aa_length": 466,
          "cds_start": 1137,
          "cds_end": null,
          "cds_length": 1401,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000351625.10"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EED",
          "gene_hgnc_id": 3188,
          "hgvs_c": "c.1062G>A",
          "hgvs_p": "p.Gly354Gly",
          "transcript": "ENST00000327320.8",
          "protein_id": "ENSP00000315587.4",
          "transcript_support_level": 1,
          "aa_start": 354,
          "aa_end": null,
          "aa_length": 400,
          "cds_start": 1062,
          "cds_end": null,
          "cds_length": 1203,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000327320.8"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EED",
          "gene_hgnc_id": 3188,
          "hgvs_c": "c.1242G>A",
          "hgvs_p": "p.Gly414Gly",
          "transcript": "ENST00000673233.3",
          "protein_id": "ENSP00000500914.2",
          "transcript_support_level": null,
          "aa_start": 414,
          "aa_end": null,
          "aa_length": 501,
          "cds_start": 1242,
          "cds_end": null,
          "cds_length": 1506,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000673233.3"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EED",
          "gene_hgnc_id": 3188,
          "hgvs_c": "c.1137G>A",
          "hgvs_p": "p.Gly379Gly",
          "transcript": "NM_001308007.2",
          "protein_id": "NP_001294936.1",
          "transcript_support_level": null,
          "aa_start": 379,
          "aa_end": null,
          "aa_length": 466,
          "cds_start": 1137,
          "cds_end": null,
          "cds_length": 1401,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001308007.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EED",
          "gene_hgnc_id": 3188,
          "hgvs_c": "c.1062G>A",
          "hgvs_p": "p.Gly354Gly",
          "transcript": "ENST00000672825.1",
          "protein_id": "ENSP00000500834.1",
          "transcript_support_level": null,
          "aa_start": 354,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 1062,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000672825.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EED",
          "gene_hgnc_id": 3188,
          "hgvs_c": "c.1044G>A",
          "hgvs_p": "p.Gly348Gly",
          "transcript": "NM_001440587.1",
          "protein_id": "NP_001427516.1",
          "transcript_support_level": null,
          "aa_start": 348,
          "aa_end": null,
          "aa_length": 435,
          "cds_start": 1044,
          "cds_end": null,
          "cds_length": 1308,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001440587.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EED",
          "gene_hgnc_id": 3188,
          "hgvs_c": "c.1137G>A",
          "hgvs_p": "p.Gly379Gly",
          "transcript": "NM_001440588.1",
          "protein_id": "NP_001427517.1",
          "transcript_support_level": null,
          "aa_start": 379,
          "aa_end": null,
          "aa_length": 428,
          "cds_start": 1137,
          "cds_end": null,
          "cds_length": 1287,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001440588.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EED",
          "gene_hgnc_id": 3188,
          "hgvs_c": "c.1137G>A",
          "hgvs_p": "p.Gly379Gly",
          "transcript": "NM_001440589.1",
          "protein_id": "NP_001427518.1",
          "transcript_support_level": null,
          "aa_start": 379,
          "aa_end": null,
          "aa_length": 425,
          "cds_start": 1137,
          "cds_end": null,
          "cds_length": 1278,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001440589.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EED",
          "gene_hgnc_id": 3188,
          "hgvs_c": "c.996G>A",
          "hgvs_p": "p.Gly332Gly",
          "transcript": "NM_001440591.1",
          "protein_id": "NP_001427520.1",
          "transcript_support_level": null,
          "aa_start": 332,
          "aa_end": null,
          "aa_length": 419,
          "cds_start": 996,
          "cds_end": null,
          "cds_length": 1260,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001440591.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EED",
          "gene_hgnc_id": 3188,
          "hgvs_c": "c.969G>A",
          "hgvs_p": "p.Gly323Gly",
          "transcript": "NM_001440594.1",
          "protein_id": "NP_001427523.1",
          "transcript_support_level": null,
          "aa_start": 323,
          "aa_end": null,
          "aa_length": 410,
          "cds_start": 969,
          "cds_end": null,
          "cds_length": 1233,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001440594.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EED",
          "gene_hgnc_id": 3188,
          "hgvs_c": "c.1137G>A",
          "hgvs_p": "p.Gly379Gly",
          "transcript": "NM_001440595.1",
          "protein_id": "NP_001427524.1",
          "transcript_support_level": null,
          "aa_start": 379,
          "aa_end": null,
          "aa_length": 409,
          "cds_start": 1137,
          "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": "NM_001440595.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EED",
          "gene_hgnc_id": 3188,
          "hgvs_c": "c.957G>A",
          "hgvs_p": "p.Gly319Gly",
          "transcript": "ENST00000707108.1",
          "protein_id": "ENSP00000516737.1",
          "transcript_support_level": null,
          "aa_start": 319,
          "aa_end": null,
          "aa_length": 406,
          "cds_start": 957,
          "cds_end": null,
          "cds_length": 1221,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000707108.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EED",
          "gene_hgnc_id": 3188,
          "hgvs_c": "c.1062G>A",
          "hgvs_p": "p.Gly354Gly",
          "transcript": "NM_001440586.1",
          "protein_id": "NP_001427515.1",
          "transcript_support_level": null,
          "aa_start": 354,
          "aa_end": null,
          "aa_length": 400,
          "cds_start": 1062,
          "cds_end": null,
          "cds_length": 1203,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001440586.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EED",
          "gene_hgnc_id": 3188,
          "hgvs_c": "c.1062G>A",
          "hgvs_p": "p.Gly354Gly",
          "transcript": "NM_001440597.1",
          "protein_id": "NP_001427526.1",
          "transcript_support_level": null,
          "aa_start": 354,
          "aa_end": null,
          "aa_length": 390,
          "cds_start": 1062,
          "cds_end": null,
          "cds_length": 1173,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001440597.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EED",
          "gene_hgnc_id": 3188,
          "hgvs_c": "c.891G>A",
          "hgvs_p": "p.Gly297Gly",
          "transcript": "NM_001440598.1",
          "protein_id": "NP_001427527.1",
          "transcript_support_level": null,
          "aa_start": 297,
          "aa_end": null,
          "aa_length": 384,
          "cds_start": 891,
          "cds_end": null,
          "cds_length": 1155,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001440598.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EED",
          "gene_hgnc_id": 3188,
          "hgvs_c": "c.870G>A",
          "hgvs_p": "p.Gly290Gly",
          "transcript": "NM_001440599.1",
          "protein_id": "NP_001427528.1",
          "transcript_support_level": null,
          "aa_start": 290,
          "aa_end": null,
          "aa_length": 377,
          "cds_start": 870,
          "cds_end": null,
          "cds_length": 1134,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001440599.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EED",
          "gene_hgnc_id": 3188,
          "hgvs_c": "c.969G>A",
          "hgvs_p": "p.Gly323Gly",
          "transcript": "NM_001440600.1",
          "protein_id": "NP_001427529.1",
          "transcript_support_level": null,
          "aa_start": 323,
          "aa_end": null,
          "aa_length": 372,
          "cds_start": 969,
          "cds_end": null,
          "cds_length": 1119,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001440600.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "EED",
          "gene_hgnc_id": 3188,
          "hgvs_c": "c.822G>A",
          "hgvs_p": "p.Gly274Gly",
          "transcript": "NM_001330334.2",
          "protein_id": "NP_001317263.1",
          "transcript_support_level": null,
          "aa_start": 274,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": 822,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001330334.2"
        },
        {
          "aa_ref": "G",
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      "gnomad_exomes_homalt": 1,
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      "computational_score_selected": 0.039000000804662704,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "REVEL",
      "splice_score_selected": 0.009999999776482582,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "revel_prediction": "Benign",
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      "bayesdelnoaf_score": -0.43,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.788,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.01,
      "spliceai_max_prediction": "Benign",
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      "acmg_score": -9,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BS2",
      "acmg_by_gene": [
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            "BP7",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "NM_001308007.2",
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      "clinvar_disease": "Cohen-Gibson syndrome,EED-related disorder",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "B:1",
      "phenotype_combined": "Cohen-Gibson syndrome|EED-related disorder",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}