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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: 7-88136013-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=88136013&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 88136013,
      "ref": "G",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "ENST00000413139.2",
      "consequences": [
        {
          "aa_ref": "C",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
          "hgvs_c": "c.1202G>T",
          "hgvs_p": "p.Cys401Phe",
          "transcript": "NM_001324418.2",
          "protein_id": "NP_001311347.1",
          "transcript_support_level": null,
          "aa_start": 401,
          "aa_end": null,
          "aa_length": 964,
          "cds_start": 1202,
          "cds_end": null,
          "cds_length": 2895,
          "cdna_start": 1417,
          "cdna_end": null,
          "cdna_length": 9508,
          "mane_select": "ENST00000413139.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "F",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
          "hgvs_c": "c.1202G>T",
          "hgvs_p": "p.Cys401Phe",
          "transcript": "ENST00000413139.2",
          "protein_id": "ENSP00000412085.2",
          "transcript_support_level": 5,
          "aa_start": 401,
          "aa_end": null,
          "aa_length": 964,
          "cds_start": 1202,
          "cds_end": null,
          "cds_length": 2895,
          "cdna_start": 1417,
          "cdna_end": null,
          "cdna_length": 9508,
          "mane_select": "NM_001324418.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
          "hgvs_c": "c.1202G>T",
          "hgvs_p": "p.Cys401Phe",
          "transcript": "ENST00000265727.11",
          "protein_id": "ENSP00000265727.7",
          "transcript_support_level": 1,
          "aa_start": 401,
          "aa_end": null,
          "aa_length": 906,
          "cds_start": 1202,
          "cds_end": null,
          "cds_length": 2721,
          "cdna_start": 1281,
          "cdna_end": null,
          "cdna_length": 2891,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
          "hgvs_c": "c.1202G>T",
          "hgvs_p": "p.Cys401Phe",
          "transcript": "ENST00000398209.7",
          "protein_id": "ENSP00000381267.3",
          "transcript_support_level": 1,
          "aa_start": 401,
          "aa_end": null,
          "aa_length": 899,
          "cds_start": 1202,
          "cds_end": null,
          "cds_length": 2700,
          "cdna_start": 1248,
          "cdna_end": null,
          "cdna_length": 9144,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
          "hgvs_c": "c.1202G>T",
          "hgvs_p": "p.Cys401Phe",
          "transcript": "ENST00000398204.8",
          "protein_id": "ENSP00000381262.4",
          "transcript_support_level": 1,
          "aa_start": 401,
          "aa_end": null,
          "aa_length": 870,
          "cds_start": 1202,
          "cds_end": null,
          "cds_length": 2613,
          "cdna_start": 1525,
          "cdna_end": null,
          "cdna_length": 9334,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
          "hgvs_c": "c.1202G>T",
          "hgvs_p": "p.Cys401Phe",
          "transcript": "ENST00000398201.8",
          "protein_id": "ENSP00000381260.4",
          "transcript_support_level": 1,
          "aa_start": 401,
          "aa_end": null,
          "aa_length": 859,
          "cds_start": 1202,
          "cds_end": null,
          "cds_length": 2580,
          "cdna_start": 1321,
          "cdna_end": null,
          "cdna_length": 2784,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
          "hgvs_c": "c.1199G>T",
          "hgvs_p": "p.Cys400Phe",
          "transcript": "NM_001324419.2",
          "protein_id": "NP_001311348.1",
          "transcript_support_level": null,
          "aa_start": 400,
          "aa_end": null,
          "aa_length": 963,
          "cds_start": 1199,
          "cds_end": null,
          "cds_length": 2892,
          "cdna_start": 1414,
          "cdna_end": null,
          "cdna_length": 9505,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
          "hgvs_c": "c.1253G>T",
          "hgvs_p": "p.Cys418Phe",
          "transcript": "NM_001391975.1",
          "protein_id": "NP_001378904.1",
          "transcript_support_level": null,
          "aa_start": 418,
          "aa_end": null,
          "aa_length": 953,
          "cds_start": 1253,
          "cds_end": null,
          "cds_length": 2862,
          "cdna_start": 1468,
          "cdna_end": null,
          "cdna_length": 9475,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "C",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
          "hgvs_c": "c.1202G>T",
          "hgvs_p": "p.Cys401Phe",
          "transcript": "NM_001391976.1",
          "protein_id": "NP_001378905.1",
          "transcript_support_level": null,
          "aa_start": 401,
          "aa_end": null,
          "aa_length": 943,
          "cds_start": 1202,
          "cds_end": null,
          "cds_length": 2832,
          "cdna_start": 1417,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "C",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
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          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
          "hgvs_c": "c.1202G>T",
          "hgvs_p": "p.Cys401Phe",
          "transcript": "NM_001324420.2",
          "protein_id": "NP_001311349.1",
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          "cds_start": 1202,
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        {
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          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
          "hgvs_c": "c.1202G>T",
          "hgvs_p": "p.Cys401Phe",
          "transcript": "NM_001391977.1",
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          "cdna_start": 1417,
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        {
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          "consequences": [
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          "intron_rank": null,
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          "gene_symbol": "ADAM22",
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        {
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        {
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          "gene_symbol": "ADAM22",
          "gene_hgnc_id": 201,
          "hgvs_c": "c.1199G>T",
          "hgvs_p": "p.Cys400Phe",
          "transcript": "NM_001324417.2",
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        {
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          "intron_rank": null,
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          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2361,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "ADAM22",
      "gene_hgnc_id": 201,
      "dbsnp": "rs747259064",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.9900380373001099,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.924,
      "revel_prediction": "Pathogenic",
      "alphamissense_score": 0.996,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.44,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 8.273,
      "phylop100way_prediction": "Pathogenic",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 8,
      "acmg_classification": "Likely_pathogenic",
      "acmg_criteria": "PM2,PM5,PP3_Strong",
      "acmg_by_gene": [
        {
          "score": 8,
          "benign_score": 0,
          "pathogenic_score": 8,
          "criteria": [
            "PM2",
            "PM5",
            "PP3_Strong"
          ],
          "verdict": "Likely_pathogenic",
          "transcript": "ENST00000413139.2",
          "gene_symbol": "ADAM22",
          "hgnc_id": 201,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "Unknown,AR",
          "hgvs_c": "c.1202G>T",
          "hgvs_p": "p.Cys401Phe"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}