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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: 19-53576890-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=53576890&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "message": null,
  "variants": [
    {
      "acmg_by_gene": [
        {
          "benign_score": 4,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "effects": [
            "missense_variant"
          ],
          "gene_symbol": "ZNF331",
          "hgnc_id": 15489,
          "hgvs_c": "c.330A>C",
          "hgvs_p": "p.Arg110Ser",
          "inheritance_mode": "AR",
          "pathogenic_score": 2,
          "score": -2,
          "transcript": "NM_018555.6",
          "verdict": "Likely_benign"
        },
        {
          "benign_score": 4,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "effects": [
            "intron_variant"
          ],
          "gene_symbol": "ENSG00000290755",
          "hgnc_id": null,
          "hgvs_c": "n.376-16151T>G",
          "hgvs_p": null,
          "inheritance_mode": "",
          "pathogenic_score": 2,
          "score": -2,
          "transcript": "ENST00000790248.1",
          "verdict": "Likely_benign"
        }
      ],
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_score": -2,
      "allele_count_reference_population": 0,
      "alphamissense_prediction": null,
      "alphamissense_score": 0.1886,
      "alt": "C",
      "apogee2_prediction": null,
      "apogee2_score": null,
      "bayesdelnoaf_prediction": "Benign",
      "bayesdelnoaf_score": -0.6,
      "chr": "19",
      "clinvar_classification": "",
      "clinvar_disease": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "computational_prediction_selected": "Benign",
      "computational_score_selected": 0.05519181489944458,
      "computational_source_selected": "MetaRNN",
      "consequences": [
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 463,
          "aa_ref": "R",
          "aa_start": 110,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4065,
          "cdna_start": 686,
          "cds_end": null,
          "cds_length": 1392,
          "cds_start": 330,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 6,
          "exon_rank": 6,
          "exon_rank_end": null,
          "feature": "NM_001079906.2",
          "gene_hgnc_id": 15489,
          "gene_symbol": "ZNF331",
          "hgvs_c": "c.330A>C",
          "hgvs_p": "p.Arg110Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "ENST00000449416.6",
          "protein_coding": true,
          "protein_id": "NP_001073375.1",
          "strand": true,
          "transcript": "NM_001079906.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 463,
          "aa_ref": "R",
          "aa_start": 110,
          "biotype": "protein_coding",
          "canonical": true,
          "cdna_end": null,
          "cdna_length": 4065,
          "cdna_start": 686,
          "cds_end": null,
          "cds_length": 1392,
          "cds_start": 330,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 6,
          "exon_rank": 6,
          "exon_rank_end": null,
          "feature": "ENST00000449416.6",
          "gene_hgnc_id": 15489,
          "gene_symbol": "ZNF331",
          "hgvs_c": "c.330A>C",
          "hgvs_p": "p.Arg110Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "NM_001079906.2",
          "protein_coding": true,
          "protein_id": "ENSP00000393817.1",
          "strand": true,
          "transcript": "ENST00000449416.6",
          "transcript_support_level": 5
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 463,
          "aa_ref": "R",
          "aa_start": 110,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 5042,
          "cdna_start": 1663,
          "cds_end": null,
          "cds_length": 1392,
          "cds_start": 330,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 7,
          "exon_rank": 7,
          "exon_rank_end": null,
          "feature": "ENST00000253144.13",
          "gene_hgnc_id": 15489,
          "gene_symbol": "ZNF331",
          "hgvs_c": "c.330A>C",
          "hgvs_p": "p.Arg110Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000253144.9",
          "strand": true,
          "transcript": "ENST00000253144.13",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 463,
          "aa_ref": "R",
          "aa_start": 110,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1841,
          "cdna_start": 650,
          "cds_end": null,
          "cds_length": 1392,
          "cds_start": 330,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 5,
          "exon_rank": 5,
          "exon_rank_end": null,
          "feature": "ENST00000504493.6",
          "gene_hgnc_id": 15489,
          "gene_symbol": "ZNF331",
          "hgvs_c": "c.330A>C",
          "hgvs_p": "p.Arg110Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000425517.2",
          "strand": true,
          "transcript": "ENST00000504493.6",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 463,
          "aa_ref": "R",
          "aa_start": 110,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2120,
          "cdna_start": 624,
          "cds_end": null,
          "cds_length": 1392,
          "cds_start": 330,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 5,
          "exon_rank": 5,
          "exon_rank_end": null,
          "feature": "ENST00000511154.5",
          "gene_hgnc_id": 15489,
          "gene_symbol": "ZNF331",
          "hgvs_c": "c.330A>C",
          "hgvs_p": "p.Arg110Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000421014.1",
          "strand": true,
          "transcript": "ENST00000511154.5",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 463,
          "aa_ref": "R",
          "aa_start": 110,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2161,
          "cdna_start": 662,
          "cds_end": null,
          "cds_length": 1392,
          "cds_start": 330,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 5,
          "exon_rank": 5,
          "exon_rank_end": null,
          "feature": "ENST00000512387.6",
          "gene_hgnc_id": 15489,
          "gene_symbol": "ZNF331",
          "hgvs_c": "c.330A>C",
          "hgvs_p": "p.Arg110Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000421728.1",
          "strand": true,
          "transcript": "ENST00000512387.6",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 463,
          "aa_ref": "R",
          "aa_start": 110,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1890,
          "cdna_start": 699,
          "cds_end": null,
          "cds_length": 1392,
          "cds_start": 330,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 6,
          "exon_rank": 6,
          "exon_rank_end": null,
          "feature": "ENST00000513999.5",
          "gene_hgnc_id": 15489,
          "gene_symbol": "ZNF331",
          "hgvs_c": "c.330A>C",
          "hgvs_p": "p.Arg110Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000423156.1",
          "strand": true,
          "transcript": "ENST00000513999.5",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 463,
          "aa_ref": "R",
          "aa_start": 110,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4151,
          "cdna_start": 772,
          "cds_end": null,
          "cds_length": 1392,
          "cds_start": 330,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 6,
          "exon_rank": 6,
          "exon_rank_end": null,
          "feature": "NM_001079907.1",
          "gene_hgnc_id": 15489,
          "gene_symbol": "ZNF331",
          "hgvs_c": "c.330A>C",
          "hgvs_p": "p.Arg110Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001073376.1",
          "strand": true,
          "transcript": "NM_001079907.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 463,
          "aa_ref": "R",
          "aa_start": 110,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4290,
          "cdna_start": 911,
          "cds_end": null,
          "cds_length": 1392,
          "cds_start": 330,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 7,
          "exon_rank": 7,
          "exon_rank_end": null,
          "feature": "NM_001253798.2",
          "gene_hgnc_id": 15489,
          "gene_symbol": "ZNF331",
          "hgvs_c": "c.330A>C",
          "hgvs_p": "p.Arg110Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001240727.1",
          "strand": true,
          "transcript": "NM_001253798.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 463,
          "aa_ref": "R",
          "aa_start": 110,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4260,
          "cdna_start": 881,
          "cds_end": null,
          "cds_length": 1392,
          "cds_start": 330,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 6,
          "exon_rank": 6,
          "exon_rank_end": null,
          "feature": "NM_001253799.2",
          "gene_hgnc_id": 15489,
          "gene_symbol": "ZNF331",
          "hgvs_c": "c.330A>C",
          "hgvs_p": "p.Arg110Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001240728.1",
          "strand": true,
          "transcript": "NM_001253799.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 463,
          "aa_ref": "R",
          "aa_start": 110,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4279,
          "cdna_start": 900,
          "cds_end": null,
          "cds_length": 1392,
          "cds_start": 330,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 7,
          "exon_rank": 7,
          "exon_rank_end": null,
          "feature": "NM_001253800.3",
          "gene_hgnc_id": 15489,
          "gene_symbol": "ZNF331",
          "hgvs_c": "c.330A>C",
          "hgvs_p": "p.Arg110Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001240729.1",
          "strand": true,
          "transcript": "NM_001253800.3",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 463,
          "aa_ref": "R",
          "aa_start": 110,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4041,
          "cdna_start": 662,
          "cds_end": null,
          "cds_length": 1392,
          "cds_start": 330,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 5,
          "exon_rank": 5,
          "exon_rank_end": null,
          "feature": "NM_001253801.2",
          "gene_hgnc_id": 15489,
          "gene_symbol": "ZNF331",
          "hgvs_c": "c.330A>C",
          "hgvs_p": "p.Arg110Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001240730.1",
          "strand": true,
          "transcript": "NM_001253801.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 463,
          "aa_ref": "R",
          "aa_start": 110,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4001,
          "cdna_start": 622,
          "cds_end": null,
          "cds_length": 1392,
          "cds_start": 330,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 5,
          "exon_rank": 5,
          "exon_rank_end": null,
          "feature": "NM_001317113.2",
          "gene_hgnc_id": 15489,
          "gene_symbol": "ZNF331",
          "hgvs_c": "c.330A>C",
          "hgvs_p": "p.Arg110Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001304042.1",
          "strand": true,
          "transcript": "NM_001317113.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 463,
          "aa_ref": "R",
          "aa_start": 110,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4362,
          "cdna_start": 983,
          "cds_end": null,
          "cds_length": 1392,
          "cds_start": 330,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 6,
          "exon_rank": 6,
          "exon_rank_end": null,
          "feature": "NM_001317114.2",
          "gene_hgnc_id": 15489,
          "gene_symbol": "ZNF331",
          "hgvs_c": "c.330A>C",
          "hgvs_p": "p.Arg110Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001304043.1",
          "strand": true,
          "transcript": "NM_001317114.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 463,
          "aa_ref": "R",
          "aa_start": 110,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4095,
          "cdna_start": 716,
          "cds_end": null,
          "cds_length": 1392,
          "cds_start": 330,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 7,
          "exon_rank": 7,
          "exon_rank_end": null,
          "feature": "NM_001317115.2",
          "gene_hgnc_id": 15489,
          "gene_symbol": "ZNF331",
          "hgvs_c": "c.330A>C",
          "hgvs_p": "p.Arg110Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001304044.1",
          "strand": true,
          "transcript": "NM_001317115.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 463,
          "aa_ref": "R",
          "aa_start": 110,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3908,
          "cdna_start": 529,
          "cds_end": null,
          "cds_length": 1392,
          "cds_start": 330,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 5,
          "exon_rank": 5,
          "exon_rank_end": null,
          "feature": "NM_001317116.2",
          "gene_hgnc_id": 15489,
          "gene_symbol": "ZNF331",
          "hgvs_c": "c.330A>C",
          "hgvs_p": "p.Arg110Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001304045.1",
          "strand": true,
          "transcript": "NM_001317116.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 463,
          "aa_ref": "R",
          "aa_start": 110,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4071,
          "cdna_start": 692,
          "cds_end": null,
          "cds_length": 1392,
          "cds_start": 330,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 6,
          "exon_rank": 6,
          "exon_rank_end": null,
          "feature": "NM_001317117.1",
          "gene_hgnc_id": 15489,
          "gene_symbol": "ZNF331",
          "hgvs_c": "c.330A>C",
          "hgvs_p": "p.Arg110Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001304046.1",
          "strand": true,
          "transcript": "NM_001317117.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 463,
          "aa_ref": "R",
          "aa_start": 110,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4152,
          "cdna_start": 773,
          "cds_end": null,
          "cds_length": 1392,
          "cds_start": 330,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 6,
          "exon_rank": 6,
          "exon_rank_end": null,
          "feature": "NM_001317118.1",
          "gene_hgnc_id": 15489,
          "gene_symbol": "ZNF331",
          "hgvs_c": "c.330A>C",
          "hgvs_p": "p.Arg110Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001304047.1",
          "strand": true,
          "transcript": "NM_001317118.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 463,
          "aa_ref": "R",
          "aa_start": 110,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4121,
          "cdna_start": 742,
          "cds_end": null,
          "cds_length": 1392,
          "cds_start": 330,
          "consequences": [
            "missense_variant"
          ],
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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.