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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: 11-115178666-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=115178666&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 115178666,
      "ref": "C",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_001301043.2",
      "consequences": [
        {
          "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": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADM1",
          "gene_hgnc_id": 5951,
          "hgvs_c": "c.1275G>T",
          "hgvs_p": "p.Gly425Gly",
          "transcript": "NM_001301043.2",
          "protein_id": "NP_001287972.1",
          "transcript_support_level": null,
          "aa_start": 425,
          "aa_end": null,
          "aa_length": 471,
          "cds_start": 1275,
          "cds_end": null,
          "cds_length": 1416,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000331581.11",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001301043.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADM1",
          "gene_hgnc_id": 5951,
          "hgvs_c": "c.1275G>T",
          "hgvs_p": "p.Gly425Gly",
          "transcript": "ENST00000331581.11",
          "protein_id": "ENSP00000329797.6",
          "transcript_support_level": 1,
          "aa_start": 425,
          "aa_end": null,
          "aa_length": 471,
          "cds_start": 1275,
          "cds_end": null,
          "cds_length": 1416,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001301043.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000331581.11"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADM1",
          "gene_hgnc_id": 5951,
          "hgvs_c": "c.1221G>T",
          "hgvs_p": "p.Gly407Gly",
          "transcript": "ENST00000537058.5",
          "protein_id": "ENSP00000439817.1",
          "transcript_support_level": 1,
          "aa_start": 407,
          "aa_end": null,
          "aa_length": 453,
          "cds_start": 1221,
          "cds_end": null,
          "cds_length": 1362,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000537058.5"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADM1",
          "gene_hgnc_id": 5951,
          "hgvs_c": "c.1191G>T",
          "hgvs_p": "p.Gly397Gly",
          "transcript": "ENST00000536727.5",
          "protein_id": "ENSP00000440322.1",
          "transcript_support_level": 1,
          "aa_start": 397,
          "aa_end": null,
          "aa_length": 443,
          "cds_start": 1191,
          "cds_end": null,
          "cds_length": 1332,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000536727.5"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADM1",
          "gene_hgnc_id": 5951,
          "hgvs_c": "c.1188G>T",
          "hgvs_p": "p.Gly396Gly",
          "transcript": "ENST00000452722.7",
          "protein_id": "ENSP00000395359.2",
          "transcript_support_level": 1,
          "aa_start": 396,
          "aa_end": null,
          "aa_length": 442,
          "cds_start": 1188,
          "cds_end": null,
          "cds_length": 1329,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000452722.7"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADM1",
          "gene_hgnc_id": 5951,
          "hgvs_c": "c.1104G>T",
          "hgvs_p": "p.Gly368Gly",
          "transcript": "ENST00000542447.6",
          "protein_id": "ENSP00000439176.1",
          "transcript_support_level": 1,
          "aa_start": 368,
          "aa_end": null,
          "aa_length": 414,
          "cds_start": 1104,
          "cds_end": null,
          "cds_length": 1245,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000542447.6"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADM1",
          "gene_hgnc_id": 5951,
          "hgvs_c": "c.1098G>T",
          "hgvs_p": "p.Gly366Gly",
          "transcript": "ENST00000545380.5",
          "protein_id": "ENSP00000442387.1",
          "transcript_support_level": 1,
          "aa_start": 366,
          "aa_end": null,
          "aa_length": 412,
          "cds_start": 1098,
          "cds_end": null,
          "cds_length": 1239,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000545380.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADM1",
          "gene_hgnc_id": 5951,
          "hgvs_c": "n.1233G>T",
          "hgvs_p": null,
          "transcript": "ENST00000537140.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000537140.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADM1",
          "gene_hgnc_id": 5951,
          "hgvs_c": "n.446G>T",
          "hgvs_p": null,
          "transcript": "ENST00000546000.1",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000546000.1"
        },
        {
          "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": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADM1",
          "gene_hgnc_id": 5951,
          "hgvs_c": "c.1329G>T",
          "hgvs_p": "p.Gly443Gly",
          "transcript": "ENST00000878174.1",
          "protein_id": "ENSP00000548233.1",
          "transcript_support_level": null,
          "aa_start": 443,
          "aa_end": null,
          "aa_length": 489,
          "cds_start": 1329,
          "cds_end": null,
          "cds_length": 1470,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000878174.1"
        },
        {
          "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": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADM1",
          "gene_hgnc_id": 5951,
          "hgvs_c": "c.1275G>T",
          "hgvs_p": "p.Gly425Gly",
          "transcript": "ENST00000878173.1",
          "protein_id": "ENSP00000548232.1",
          "transcript_support_level": null,
          "aa_start": 425,
          "aa_end": null,
          "aa_length": 471,
          "cds_start": 1275,
          "cds_end": null,
          "cds_length": 1416,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000878173.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADM1",
          "gene_hgnc_id": 5951,
          "hgvs_c": "c.1242G>T",
          "hgvs_p": "p.Gly414Gly",
          "transcript": "ENST00000878172.1",
          "protein_id": "ENSP00000548231.1",
          "transcript_support_level": null,
          "aa_start": 414,
          "aa_end": null,
          "aa_length": 460,
          "cds_start": 1242,
          "cds_end": null,
          "cds_length": 1383,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000878172.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADM1",
          "gene_hgnc_id": 5951,
          "hgvs_c": "c.1221G>T",
          "hgvs_p": "p.Gly407Gly",
          "transcript": "NM_001301044.2",
          "protein_id": "NP_001287973.1",
          "transcript_support_level": null,
          "aa_start": 407,
          "aa_end": null,
          "aa_length": 453,
          "cds_start": 1221,
          "cds_end": null,
          "cds_length": 1362,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001301044.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADM1",
          "gene_hgnc_id": 5951,
          "hgvs_c": "c.1191G>T",
          "hgvs_p": "p.Gly397Gly",
          "transcript": "NM_001301045.2",
          "protein_id": "NP_001287974.1",
          "transcript_support_level": null,
          "aa_start": 397,
          "aa_end": null,
          "aa_length": 443,
          "cds_start": 1191,
          "cds_end": null,
          "cds_length": 1332,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001301045.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADM1",
          "gene_hgnc_id": 5951,
          "hgvs_c": "c.1188G>T",
          "hgvs_p": "p.Gly396Gly",
          "transcript": "NM_014333.4",
          "protein_id": "NP_055148.3",
          "transcript_support_level": null,
          "aa_start": 396,
          "aa_end": null,
          "aa_length": 442,
          "cds_start": 1188,
          "cds_end": null,
          "cds_length": 1329,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_014333.4"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADM1",
          "gene_hgnc_id": 5951,
          "hgvs_c": "c.1158G>T",
          "hgvs_p": "p.Gly386Gly",
          "transcript": "ENST00000930502.1",
          "protein_id": "ENSP00000600561.1",
          "transcript_support_level": null,
          "aa_start": 386,
          "aa_end": null,
          "aa_length": 432,
          "cds_start": 1158,
          "cds_end": null,
          "cds_length": 1299,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000930502.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADM1",
          "gene_hgnc_id": 5951,
          "hgvs_c": "c.1104G>T",
          "hgvs_p": "p.Gly368Gly",
          "transcript": "NM_001098517.2",
          "protein_id": "NP_001091987.1",
          "transcript_support_level": null,
          "aa_start": 368,
          "aa_end": null,
          "aa_length": 414,
          "cds_start": 1104,
          "cds_end": null,
          "cds_length": 1245,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001098517.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADM1",
          "gene_hgnc_id": 5951,
          "hgvs_c": "c.981G>T",
          "hgvs_p": "p.Gly327Gly",
          "transcript": "ENST00000612235.4",
          "protein_id": "ENSP00000483648.1",
          "transcript_support_level": 5,
          "aa_start": 327,
          "aa_end": null,
          "aa_length": 346,
          "cds_start": 981,
          "cds_end": null,
          "cds_length": 1041,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000612235.4"
        },
        {
          "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": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADM1",
          "gene_hgnc_id": 5951,
          "hgvs_c": "c.1293G>T",
          "hgvs_p": "p.Gly431Gly",
          "transcript": "XM_017017457.3",
          "protein_id": "XP_016872946.1",
          "transcript_support_level": null,
          "aa_start": 431,
          "aa_end": null,
          "aa_length": 477,
          "cds_start": 1293,
          "cds_end": null,
          "cds_length": 1434,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017017457.3"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CADM1",
          "gene_hgnc_id": 5951,
          "hgvs_c": "c.1239G>T",
          "hgvs_p": "p.Gly413Gly",
          "transcript": "XM_047426690.1",
          "protein_id": "XP_047282646.1",
          "transcript_support_level": null,
          "aa_start": 413,
          "aa_end": null,
          "aa_length": 459,
          "cds_start": 1239,
          "cds_end": null,
          "cds_length": 1380,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047426690.1"
        },
        {
          "aa_ref": "G",
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      "gnomad_exomes_af": 6.84327e-7,
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      "computational_score_selected": 0.05900000035762787,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "REVEL",
      "splice_score_selected": 0,
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      "splice_source_selected": "max_spliceai",
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      "bayesdelnoaf_score": -0.52,
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      "phylop100way_prediction": "Benign",
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      "acmg_score": -1,
      "acmg_classification": "Likely_benign",
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      "acmg_by_gene": [
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          "pathogenic_score": 2,
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            "BP7"
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          "verdict": "Likely_benign",
          "transcript": "NM_001301043.2",
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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
}