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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: 17-66220697-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=66220697&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "message": null,
  "variants": [
    {
      "acmg_by_gene": [
        {
          "benign_score": 20,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BA1"
          ],
          "effects": [
            "missense_variant"
          ],
          "gene_symbol": "APOH",
          "hgnc_id": 616,
          "hgvs_c": "c.461G>A",
          "hgvs_p": "p.Arg154His",
          "inheritance_mode": "AR",
          "pathogenic_score": 0,
          "score": -20,
          "transcript": "NM_000042.3",
          "verdict": "Benign"
        }
      ],
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
      "acmg_score": -20,
      "allele_count_reference_population": 106948,
      "alphamissense_prediction": null,
      "alphamissense_score": 0.0765,
      "alt": "T",
      "apogee2_prediction": null,
      "apogee2_score": null,
      "bayesdelnoaf_prediction": "Benign",
      "bayesdelnoaf_score": -0.47,
      "chr": "17",
      "clinvar_classification": "Benign",
      "clinvar_disease": "not provided",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "B:2",
      "computational_prediction_selected": "Benign",
      "computational_score_selected": 0.0018351972103118896,
      "computational_source_selected": "MetaRNN",
      "consequences": [
        {
          "aa_alt": "H",
          "aa_end": null,
          "aa_length": 345,
          "aa_ref": "R",
          "aa_start": 154,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1174,
          "cdna_start": 497,
          "cds_end": null,
          "cds_length": 1038,
          "cds_start": 461,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 8,
          "exon_rank": 5,
          "exon_rank_end": null,
          "feature": "NM_000042.3",
          "gene_hgnc_id": 616,
          "gene_symbol": "APOH",
          "hgvs_c": "c.461G>A",
          "hgvs_p": "p.Arg154His",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "ENST00000205948.11",
          "protein_coding": true,
          "protein_id": "NP_000033.2",
          "strand": false,
          "transcript": "NM_000042.3",
          "transcript_support_level": null
        },
        {
          "aa_alt": "H",
          "aa_end": null,
          "aa_length": 345,
          "aa_ref": "R",
          "aa_start": 154,
          "biotype": "protein_coding",
          "canonical": true,
          "cdna_end": null,
          "cdna_length": 1174,
          "cdna_start": 497,
          "cds_end": null,
          "cds_length": 1038,
          "cds_start": 461,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 8,
          "exon_rank": 5,
          "exon_rank_end": null,
          "feature": "ENST00000205948.11",
          "gene_hgnc_id": 616,
          "gene_symbol": "APOH",
          "hgvs_c": "c.461G>A",
          "hgvs_p": "p.Arg154His",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "NM_000042.3",
          "protein_coding": true,
          "protein_id": "ENSP00000205948.6",
          "strand": false,
          "transcript": "ENST00000205948.11",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "H",
          "aa_end": null,
          "aa_length": 345,
          "aa_ref": "R",
          "aa_start": 154,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1159,
          "cdna_start": 484,
          "cds_end": null,
          "cds_length": 1038,
          "cds_start": 461,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 8,
          "exon_rank": 5,
          "exon_rank_end": null,
          "feature": "ENST00000879124.1",
          "gene_hgnc_id": 616,
          "gene_symbol": "APOH",
          "hgvs_c": "c.461G>A",
          "hgvs_p": "p.Arg154His",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000549183.1",
          "strand": false,
          "transcript": "ENST00000879124.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "H",
          "aa_end": null,
          "aa_length": 344,
          "aa_ref": "R",
          "aa_start": 154,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1239,
          "cdna_start": 557,
          "cds_end": null,
          "cds_length": 1035,
          "cds_start": 461,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 8,
          "exon_rank": 5,
          "exon_rank_end": null,
          "feature": "ENST00000879112.1",
          "gene_hgnc_id": 616,
          "gene_symbol": "APOH",
          "hgvs_c": "c.461G>A",
          "hgvs_p": "p.Arg154His",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000549171.1",
          "strand": false,
          "transcript": "ENST00000879112.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "H",
          "aa_end": null,
          "aa_length": 343,
          "aa_ref": "R",
          "aa_start": 152,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1633,
          "cdna_start": 518,
          "cds_end": null,
          "cds_length": 1032,
          "cds_start": 455,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 8,
          "exon_rank": 5,
          "exon_rank_end": null,
          "feature": "ENST00000879110.1",
          "gene_hgnc_id": 616,
          "gene_symbol": "APOH",
          "hgvs_c": "c.455G>A",
          "hgvs_p": "p.Arg152His",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000549169.1",
          "strand": false,
          "transcript": "ENST00000879110.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "H",
          "aa_end": null,
          "aa_length": 340,
          "aa_ref": "R",
          "aa_start": 149,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1142,
          "cdna_start": 466,
          "cds_end": null,
          "cds_length": 1023,
          "cds_start": 446,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 8,
          "exon_rank": 5,
          "exon_rank_end": null,
          "feature": "ENST00000879126.1",
          "gene_hgnc_id": 616,
          "gene_symbol": "APOH",
          "hgvs_c": "c.446G>A",
          "hgvs_p": "p.Arg149His",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000549185.1",
          "strand": false,
          "transcript": "ENST00000879126.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "H",
          "aa_end": null,
          "aa_length": 335,
          "aa_ref": "R",
          "aa_start": 144,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1127,
          "cdna_start": 451,
          "cds_end": null,
          "cds_length": 1008,
          "cds_start": 431,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 8,
          "exon_rank": 5,
          "exon_rank_end": null,
          "feature": "ENST00000879125.1",
          "gene_hgnc_id": 616,
          "gene_symbol": "APOH",
          "hgvs_c": "c.431G>A",
          "hgvs_p": "p.Arg144His",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000549184.1",
          "strand": false,
          "transcript": "ENST00000879125.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "H",
          "aa_end": null,
          "aa_length": 333,
          "aa_ref": "R",
          "aa_start": 142,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1611,
          "cdna_start": 496,
          "cds_end": null,
          "cds_length": 1002,
          "cds_start": 425,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 8,
          "exon_rank": 5,
          "exon_rank_end": null,
          "feature": "ENST00000879109.1",
          "gene_hgnc_id": 616,
          "gene_symbol": "APOH",
          "hgvs_c": "c.425G>A",
          "hgvs_p": "p.Arg142His",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000549168.1",
          "strand": false,
          "transcript": "ENST00000879109.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "H",
          "aa_end": null,
          "aa_length": 331,
          "aa_ref": "R",
          "aa_start": 140,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1112,
          "cdna_start": 436,
          "cds_end": null,
          "cds_length": 996,
          "cds_start": 419,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 8,
          "exon_rank": 5,
          "exon_rank_end": null,
          "feature": "ENST00000879127.1",
          "gene_hgnc_id": 616,
          "gene_symbol": "APOH",
          "hgvs_c": "c.419G>A",
          "hgvs_p": "p.Arg140His",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000549186.1",
          "strand": false,
          "transcript": "ENST00000879127.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "H",
          "aa_end": null,
          "aa_length": 314,
          "aa_ref": "R",
          "aa_start": 123,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1091,
          "cdna_start": 411,
          "cds_end": null,
          "cds_length": 945,
          "cds_start": 368,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 7,
          "exon_rank": 4,
          "exon_rank_end": null,
          "feature": "ENST00000879117.1",
          "gene_hgnc_id": 616,
          "gene_symbol": "APOH",
          "hgvs_c": "c.368G>A",
          "hgvs_p": "p.Arg123His",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000549176.1",
          "strand": false,
          "transcript": "ENST00000879117.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "H",
          "aa_end": null,
          "aa_length": 287,
          "aa_ref": "R",
          "aa_start": 96,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1003,
          "cdna_start": 327,
          "cds_end": null,
          "cds_length": 864,
          "cds_start": 287,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 6,
          "exon_rank": 3,
          "exon_rank_end": null,
          "feature": "ENST00000879119.1",
          "gene_hgnc_id": 616,
          "gene_symbol": "APOH",
          "hgvs_c": "c.287G>A",
          "hgvs_p": "p.Arg96His",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000549178.1",
          "strand": false,
          "transcript": "ENST00000879119.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "H",
          "aa_end": null,
          "aa_length": 286,
          "aa_ref": "R",
          "aa_start": 95,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1074,
          "cdna_start": 394,
          "cds_end": null,
          "cds_length": 861,
          "cds_start": 284,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 7,
          "exon_rank": 4,
          "exon_rank_end": null,
          "feature": "ENST00000879111.1",
          "gene_hgnc_id": 616,
          "gene_symbol": "APOH",
          "hgvs_c": "c.284G>A",
          "hgvs_p": "p.Arg95His",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000549170.1",
          "strand": false,
          "transcript": "ENST00000879111.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "H",
          "aa_end": null,
          "aa_length": 285,
          "aa_ref": "R",
          "aa_start": 154,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1026,
          "cdna_start": 526,
          "cds_end": null,
          "cds_length": 858,
          "cds_start": 461,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 7,
          "exon_rank": 5,
          "exon_rank_end": null,
          "feature": "ENST00000879115.1",
          "gene_hgnc_id": 616,
          "gene_symbol": "APOH",
          "hgvs_c": "c.461G>A",
          "hgvs_p": "p.Arg154His",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000549174.1",
          "strand": false,
          "transcript": "ENST00000879115.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "H",
          "aa_end": null,
          "aa_length": 228,
          "aa_ref": "R",
          "aa_start": 37,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 855,
          "cdna_start": 175,
          "cds_end": null,
          "cds_length": 687,
          "cds_start": 110,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 5,
          "exon_rank": 2,
          "exon_rank_end": null,
          "feature": "ENST00000879116.1",
          "gene_hgnc_id": 616,
          "gene_symbol": "APOH",
          "hgvs_c": "c.110G>A",
          "hgvs_p": "p.Arg37His",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000549175.1",
          "strand": false,
          "transcript": "ENST00000879116.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "H",
          "aa_end": null,
          "aa_length": 219,
          "aa_ref": "R",
          "aa_start": 154,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 839,
          "cdna_start": 532,
          "cds_end": null,
          "cds_length": 660,
          "cds_start": 461,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 6,
          "exon_rank": 5,
          "exon_rank_end": null,
          "feature": "ENST00000879114.1",
          "gene_hgnc_id": 616,
          "gene_symbol": "APOH",
          "hgvs_c": "c.461G>A",
          "hgvs_p": "p.Arg154His",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000549173.1",
          "strand": false,
          "transcript": "ENST00000879114.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "H",
          "aa_end": null,
          "aa_length": 199,
          "aa_ref": "R",
          "aa_start": 94,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 748,
          "cdna_start": 428,
          "cds_end": null,
          "cds_length": 601,
          "cds_start": 281,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 6,
          "exon_rank": 5,
          "exon_rank_end": null,
          "feature": "ENST00000581797.5",
          "gene_hgnc_id": 616,
          "gene_symbol": "APOH",
          "hgvs_c": "c.281G>A",
          "hgvs_p": "p.Arg94His",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000463553.1",
          "strand": false,
          "transcript": "ENST00000581797.5",
          "transcript_support_level": 3
        },
        {
          "aa_alt": "H",
          "aa_end": null,
          "aa_length": 180,
          "aa_ref": "R",
          "aa_start": 154,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 707,
          "cdna_start": 624,
          "cds_end": null,
          "cds_length": 544,
          "cds_start": 461,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 6,
          "exon_rank": 6,
          "exon_rank_end": null,
          "feature": "ENST00000577982.1",
          "gene_hgnc_id": 616,
          "gene_symbol": "APOH",
          "hgvs_c": "c.461G>A",
          "hgvs_p": "p.Arg154His",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000464301.1",
          "strand": false,
          "transcript": "ENST00000577982.1",
          "transcript_support_level": 5
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 324,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1125,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 975,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 8,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000879118.1",
          "gene_hgnc_id": 616,
          "gene_symbol": "APOH",
          "hgvs_c": "c.416-18G>A",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000549177.1",
          "strand": false,
          "transcript": "ENST00000879118.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 313,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1079,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 942,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 8,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000879120.1",
          "gene_hgnc_id": 616,
          "gene_symbol": "APOH",
          "hgvs_c": "c.416-51G>A",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000549179.1",
          "strand": false,
          "transcript": "ENST00000879120.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
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}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.