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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: 14-104772398-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=104772398&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "message": null,
  "variants": [
    {
      "acmg_by_gene": [
        {
          "benign_score": 19,
          "criteria": [
            "BP4_Moderate",
            "BP6_Very_Strong",
            "BP7",
            "BS1",
            "BS2"
          ],
          "effects": [
            "synonymous_variant"
          ],
          "gene_symbol": "AKT1",
          "hgnc_id": 391,
          "hgvs_c": "c.1227C>T",
          "hgvs_p": "p.Ala409Ala",
          "inheritance_mode": "AD,Unknown",
          "pathogenic_score": 0,
          "score": -19,
          "transcript": "NM_005163.2",
          "verdict": "Benign"
        }
      ],
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
      "acmg_score": -19,
      "allele_count_reference_population": 99,
      "alphamissense_prediction": null,
      "alphamissense_score": null,
      "alt": "A",
      "apogee2_prediction": null,
      "apogee2_score": null,
      "bayesdelnoaf_prediction": "Benign",
      "bayesdelnoaf_score": -0.38,
      "chr": "14",
      "clinvar_classification": "Likely benign",
      "clinvar_disease": "Cowden syndrome 6,Inborn genetic diseases",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "LB:3",
      "computational_prediction_selected": "Benign",
      "computational_score_selected": -0.3799999952316284,
      "computational_source_selected": "BayesDel_noAF",
      "consequences": [
        {
          "aa_alt": "A",
          "aa_end": null,
          "aa_length": 480,
          "aa_ref": "A",
          "aa_start": 409,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2957,
          "cdna_start": 1749,
          "cds_end": null,
          "cds_length": 1443,
          "cds_start": 1227,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 15,
          "exon_rank": 13,
          "exon_rank_end": null,
          "feature": "NM_001382430.1",
          "gene_hgnc_id": 391,
          "gene_symbol": "AKT1",
          "hgvs_c": "c.1227C>T",
          "hgvs_p": "p.Ala409Ala",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "ENST00000649815.2",
          "protein_coding": true,
          "protein_id": "NP_001369359.1",
          "strand": false,
          "transcript": "NM_001382430.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "A",
          "aa_end": null,
          "aa_length": 480,
          "aa_ref": "A",
          "aa_start": 409,
          "biotype": "protein_coding",
          "canonical": true,
          "cdna_end": null,
          "cdna_length": 2957,
          "cdna_start": 1749,
          "cds_end": null,
          "cds_length": 1443,
          "cds_start": 1227,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 15,
          "exon_rank": 13,
          "exon_rank_end": null,
          "feature": "ENST00000649815.2",
          "gene_hgnc_id": 391,
          "gene_symbol": "AKT1",
          "hgvs_c": "c.1227C>T",
          "hgvs_p": "p.Ala409Ala",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "NM_001382430.1",
          "protein_coding": true,
          "protein_id": "ENSP00000497822.1",
          "strand": false,
          "transcript": "ENST00000649815.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "A",
          "aa_end": null,
          "aa_length": 480,
          "aa_ref": "A",
          "aa_start": 409,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2866,
          "cdna_start": 1658,
          "cds_end": null,
          "cds_length": 1443,
          "cds_start": 1227,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 15,
          "exon_rank": 13,
          "exon_rank_end": null,
          "feature": "ENST00000349310.7",
          "gene_hgnc_id": 391,
          "gene_symbol": "AKT1",
          "hgvs_c": "c.1227C>T",
          "hgvs_p": "p.Ala409Ala",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000270202.4",
          "strand": false,
          "transcript": "ENST00000349310.7",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "A",
          "aa_end": null,
          "aa_length": 480,
          "aa_ref": "A",
          "aa_start": 409,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3913,
          "cdna_start": 2708,
          "cds_end": null,
          "cds_length": 1443,
          "cds_start": 1227,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 14,
          "exon_rank": 12,
          "exon_rank_end": null,
          "feature": "ENST00000402615.6",
          "gene_hgnc_id": 391,
          "gene_symbol": "AKT1",
          "hgvs_c": "c.1227C>T",
          "hgvs_p": "p.Ala409Ala",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000385326.2",
          "strand": false,
          "transcript": "ENST00000402615.6",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "A",
          "aa_end": null,
          "aa_length": 480,
          "aa_ref": "A",
          "aa_start": 409,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2779,
          "cdna_start": 1571,
          "cds_end": null,
          "cds_length": 1443,
          "cds_start": 1227,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 14,
          "exon_rank": 12,
          "exon_rank_end": null,
          "feature": "ENST00000407796.7",
          "gene_hgnc_id": 391,
          "gene_symbol": "AKT1",
          "hgvs_c": "c.1227C>T",
          "hgvs_p": "p.Ala409Ala",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000384293.2",
          "strand": false,
          "transcript": "ENST00000407796.7",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "A",
          "aa_end": null,
          "aa_length": 480,
          "aa_ref": "A",
          "aa_start": 409,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3916,
          "cdna_start": 2708,
          "cds_end": null,
          "cds_length": 1443,
          "cds_start": 1227,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 13,
          "exon_rank": 11,
          "exon_rank_end": null,
          "feature": "ENST00000554581.5",
          "gene_hgnc_id": 391,
          "gene_symbol": "AKT1",
          "hgvs_c": "c.1227C>T",
          "hgvs_p": "p.Ala409Ala",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000451828.1",
          "strand": false,
          "transcript": "ENST00000554581.5",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "A",
          "aa_end": null,
          "aa_length": 480,
          "aa_ref": "A",
          "aa_start": 409,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1595,
          "cdna_start": 1379,
          "cds_end": null,
          "cds_length": 1443,
          "cds_start": 1227,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 14,
          "exon_rank": 12,
          "exon_rank_end": null,
          "feature": "ENST00000554848.5",
          "gene_hgnc_id": 391,
          "gene_symbol": "AKT1",
          "hgvs_c": "c.1227C>T",
          "hgvs_p": "p.Ala409Ala",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000451166.1",
          "strand": false,
          "transcript": "ENST00000554848.5",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "A",
          "aa_end": null,
          "aa_length": 480,
          "aa_ref": "A",
          "aa_start": 409,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3066,
          "cdna_start": 1880,
          "cds_end": null,
          "cds_length": 1443,
          "cds_start": 1227,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 14,
          "exon_rank": 12,
          "exon_rank_end": null,
          "feature": "ENST00000555528.5",
          "gene_hgnc_id": 391,
          "gene_symbol": "AKT1",
          "hgvs_c": "c.1227C>T",
          "hgvs_p": "p.Ala409Ala",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000450688.1",
          "strand": false,
          "transcript": "ENST00000555528.5",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "W",
          "aa_end": null,
          "aa_length": 440,
          "aa_ref": "R",
          "aa_start": 338,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2654,
          "cdna_start": 1352,
          "cds_end": null,
          "cds_length": 1323,
          "cds_start": 1012,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 14,
          "exon_rank": 11,
          "exon_rank_end": null,
          "feature": "ENST00000959666.1",
          "gene_hgnc_id": 391,
          "gene_symbol": "AKT1",
          "hgvs_c": "c.1012C>T",
          "hgvs_p": "p.Arg338Trp",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000629725.1",
          "strand": false,
          "transcript": "ENST00000959666.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "A",
          "aa_end": null,
          "aa_length": 529,
          "aa_ref": "A",
          "aa_start": 458,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3155,
          "cdna_start": 1952,
          "cds_end": null,
          "cds_length": 1590,
          "cds_start": 1374,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 16,
          "exon_rank": 14,
          "exon_rank_end": null,
          "feature": "ENST00000714130.1",
          "gene_hgnc_id": 391,
          "gene_symbol": "AKT1",
          "hgvs_c": "c.1374C>T",
          "hgvs_p": "p.Ala458Ala",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000519419.1",
          "strand": false,
          "transcript": "ENST00000714130.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "A",
          "aa_end": null,
          "aa_length": 529,
          "aa_ref": "A",
          "aa_start": 458,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2921,
          "cdna_start": 1713,
          "cds_end": null,
          "cds_length": 1590,
          "cds_start": 1374,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 14,
          "exon_rank": 12,
          "exon_rank_end": null,
          "feature": "ENST00000939382.1",
          "gene_hgnc_id": 391,
          "gene_symbol": "AKT1",
          "hgvs_c": "c.1374C>T",
          "hgvs_p": "p.Ala458Ala",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000609441.1",
          "strand": false,
          "transcript": "ENST00000939382.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "A",
          "aa_end": null,
          "aa_length": 529,
          "aa_ref": "A",
          "aa_start": 458,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3130,
          "cdna_start": 1925,
          "cds_end": null,
          "cds_length": 1590,
          "cds_start": 1374,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 15,
          "exon_rank": 13,
          "exon_rank_end": null,
          "feature": "ENST00000959650.1",
          "gene_hgnc_id": 391,
          "gene_symbol": "AKT1",
          "hgvs_c": "c.1374C>T",
          "hgvs_p": "p.Ala458Ala",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000629709.1",
          "strand": false,
          "transcript": "ENST00000959650.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "A",
          "aa_end": null,
          "aa_length": 529,
          "aa_ref": "A",
          "aa_start": 458,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3233,
          "cdna_start": 2028,
          "cds_end": null,
          "cds_length": 1590,
          "cds_start": 1374,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 16,
          "exon_rank": 14,
          "exon_rank_end": null,
          "feature": "ENST00000959670.1",
          "gene_hgnc_id": 391,
          "gene_symbol": "AKT1",
          "hgvs_c": "c.1374C>T",
          "hgvs_p": "p.Ala458Ala",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000629729.1",
          "strand": false,
          "transcript": "ENST00000959670.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "A",
          "aa_end": null,
          "aa_length": 505,
          "aa_ref": "A",
          "aa_start": 434,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3711,
          "cdna_start": 2550,
          "cds_end": null,
          "cds_length": 1518,
          "cds_start": 1302,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 15,
          "exon_rank": 13,
          "exon_rank_end": null,
          "feature": "ENST00000553797.2",
          "gene_hgnc_id": 391,
          "gene_symbol": "AKT1",
          "hgvs_c": "c.1302C>T",
          "hgvs_p": "p.Ala434Ala",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000507566.1",
          "strand": false,
          "transcript": "ENST00000553797.2",
          "transcript_support_level": 3
        },
        {
          "aa_alt": "A",
          "aa_end": null,
          "aa_length": 500,
          "aa_ref": "A",
          "aa_start": 429,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2839,
          "cdna_start": 1633,
          "cds_end": null,
          "cds_length": 1503,
          "cds_start": 1287,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 14,
          "exon_rank": 12,
          "exon_rank_end": null,
          "feature": "ENST00000959659.1",
          "gene_hgnc_id": 391,
          "gene_symbol": "AKT1",
          "hgvs_c": "c.1287C>T",
          "hgvs_p": "p.Ala429Ala",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000629718.1",
          "strand": false,
          "transcript": "ENST00000959659.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "A",
          "aa_end": null,
          "aa_length": 480,
          "aa_ref": "A",
          "aa_start": 409,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2779,
          "cdna_start": 1571,
          "cds_end": null,
          "cds_length": 1443,
          "cds_start": 1227,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 14,
          "exon_rank": 12,
          "exon_rank_end": null,
          "feature": "NM_001014431.2",
          "gene_hgnc_id": 391,
          "gene_symbol": "AKT1",
          "hgvs_c": "c.1227C>T",
          "hgvs_p": "p.Ala409Ala",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001014431.1",
          "strand": false,
          "transcript": "NM_001014431.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "A",
          "aa_end": null,
          "aa_length": 480,
          "aa_ref": "A",
          "aa_start": 409,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2863,
          "cdna_start": 1655,
          "cds_end": null,
          "cds_length": 1443,
          "cds_start": 1227,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 15,
          "exon_rank": 13,
          "exon_rank_end": null,
          "feature": "NM_001014432.2",
          "gene_hgnc_id": 391,
          "gene_symbol": "AKT1",
          "hgvs_c": "c.1227C>T",
          "hgvs_p": "p.Ala409Ala",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001014432.1",
          "strand": false,
          "transcript": "NM_001014432.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "A",
          "aa_end": null,
          "aa_length": 480,
          "aa_ref": "A",
          "aa_start": 409,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2922,
          "cdna_start": 1714,
          "cds_end": null,
          "cds_length": 1443,
          "cds_start": 1227,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 15,
          "exon_rank": 13,
          "exon_rank_end": null,
          "feature": "NM_001382431.1",
          "gene_hgnc_id": 391,
          "gene_symbol": "AKT1",
          "hgvs_c": "c.1227C>T",
          "hgvs_p": "p.Ala409Ala",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001369360.1",
          "strand": false,
          "transcript": "NM_001382431.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "A",
          "aa_end": null,
          "aa_length": 480,
          "aa_ref": "A",
          "aa_start": 409,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3006,
          "cdna_start": 1798,
          "cds_end": null,
          "cds_length": 1443,
          "cds_start": 1227,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 16,
          "exon_rank": 14,
          "exon_rank_end": null,
          "feature": "NM_001382432.1",
          "gene_hgnc_id": 391,
          "gene_symbol": "AKT1",
          "hgvs_c": "c.1227C>T",
          "hgvs_p": "p.Ala409Ala",
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      "mitotip_prediction": null,
      "mitotip_score": null,
      "pathogenicity_classification_combined": "Likely benign",
      "phenotype_combined": "Cowden syndrome 6|Inborn genetic diseases",
      "phylop100way_prediction": "Benign",
      "phylop100way_score": 1.202,
      "pos": 104772398,
      "ref": "G",
      "revel_prediction": null,
      "revel_score": null,
      "splice_prediction_selected": "Benign",
      "splice_score_selected": 0,
      "splice_source_selected": "max_spliceai",
      "spliceai_max_prediction": "Benign",
      "spliceai_max_score": 0,
      "transcript": "NM_005163.2"
    }
  ]
}
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