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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: 3-24127609-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=24127609&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
  "variants": [
    {
      "chr": "3",
      "pos": 24127609,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "ENST00000646209.2",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.1034G>A",
          "hgvs_p": "p.Gly345Asp",
          "transcript": "NM_001354712.2",
          "protein_id": "NP_001341641.1",
          "transcript_support_level": null,
          "aa_start": 345,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": 1034,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": 1493,
          "cdna_end": null,
          "cdna_length": 7576,
          "mane_select": "ENST00000646209.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.1034G>A",
          "hgvs_p": "p.Gly345Asp",
          "transcript": "ENST00000646209.2",
          "protein_id": "ENSP00000496686.2",
          "transcript_support_level": null,
          "aa_start": 345,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": 1034,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": 1493,
          "cdna_end": null,
          "cdna_length": 7576,
          "mane_select": "NM_001354712.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.1034G>A",
          "hgvs_p": "p.Gly345Asp",
          "transcript": "ENST00000356447.9",
          "protein_id": "ENSP00000348827.4",
          "transcript_support_level": 1,
          "aa_start": 345,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": 1034,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": 1411,
          "cdna_end": null,
          "cdna_length": 6433,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.1079G>A",
          "hgvs_p": "p.Gly360Asp",
          "transcript": "ENST00000280696.9",
          "protein_id": "ENSP00000280696.5",
          "transcript_support_level": 5,
          "aa_start": 360,
          "aa_end": null,
          "aa_length": 476,
          "cds_start": 1079,
          "cds_end": null,
          "cds_length": 1431,
          "cdna_start": 1320,
          "cdna_end": null,
          "cdna_length": 1718,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.1034G>A",
          "hgvs_p": "p.Gly345Asp",
          "transcript": "NM_000461.5",
          "protein_id": "NP_000452.2",
          "transcript_support_level": null,
          "aa_start": 345,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": 1034,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": 1347,
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          "cdna_length": 7430,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.1034G>A",
          "hgvs_p": "p.Gly345Asp",
          "transcript": "NM_001128176.3",
          "protein_id": "NP_001121648.1",
          "transcript_support_level": null,
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          "aa_end": null,
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          "cds_start": 1034,
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          "cdna_start": 1458,
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          "cdna_length": 7541,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 10,
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          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.1034G>A",
          "hgvs_p": "p.Gly345Asp",
          "transcript": "NM_001128177.2",
          "protein_id": "NP_001121649.1",
          "transcript_support_level": null,
          "aa_start": 345,
          "aa_end": null,
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          "cds_start": 1034,
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          "cdna_start": 1484,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
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          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.1034G>A",
          "hgvs_p": "p.Gly345Asp",
          "transcript": "NM_001252634.2",
          "protein_id": "NP_001239563.1",
          "transcript_support_level": null,
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          "cds_start": 1034,
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        {
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          "hgvs_p": "p.Gly345Asp",
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          "hgvs_c": "n.*1663G>A",
          "hgvs_p": null,
          "transcript": "ENST00000646966.1",
          "protein_id": "ENSP00000496095.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6600,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "THRB",
          "gene_hgnc_id": 11799,
          "hgvs_c": "c.973+61G>A",
          "hgvs_p": null,
          "transcript": "NM_001374827.1",
          "protein_id": "NP_001361756.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 404,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1215,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7116,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "THRB",
      "gene_hgnc_id": 11799,
      "dbsnp": "rs28999970",
      "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": 0.9869409203529358,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.932,
      "revel_prediction": "Pathogenic",
      "alphamissense_score": 0.9977,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.51,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 7.905,
      "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": 12,
      "acmg_classification": "Pathogenic",
      "acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5",
      "acmg_by_gene": [
        {
          "score": 12,
          "benign_score": 0,
          "pathogenic_score": 12,
          "criteria": [
            "PM1",
            "PM2",
            "PM5",
            "PP2",
            "PP3_Strong",
            "PP5"
          ],
          "verdict": "Pathogenic",
          "transcript": "ENST00000646209.2",
          "gene_symbol": "THRB",
          "hgnc_id": 11799,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR,AD",
          "hgvs_c": "c.1034G>A",
          "hgvs_p": "p.Gly345Asp"
        }
      ],
      "clinvar_disease": "Generalized resistance to thyroid hormone",
      "clinvar_classification": "Pathogenic",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "Generalized resistance to thyroid hormone",
      "pathogenicity_classification_combined": "Pathogenic",
      "custom_annotations": null
    }
  ],
  "message": null
}