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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: 14-37285384-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=37285384&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 37285384,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_001388069.1",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MIPOL1",
          "gene_hgnc_id": 21460,
          "hgvs_c": "c.560T>C",
          "hgvs_p": "p.Leu187Ser",
          "transcript": "NM_001388067.1",
          "protein_id": "NP_001374996.1",
          "transcript_support_level": null,
          "aa_start": 187,
          "aa_end": null,
          "aa_length": 442,
          "cds_start": 560,
          "cds_end": null,
          "cds_length": 1329,
          "cdna_start": 926,
          "cdna_end": null,
          "cdna_length": 5983,
          "mane_select": "ENST00000684589.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001388067.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MIPOL1",
          "gene_hgnc_id": 21460,
          "hgvs_c": "c.560T>C",
          "hgvs_p": "p.Leu187Ser",
          "transcript": "ENST00000684589.1",
          "protein_id": "ENSP00000506738.1",
          "transcript_support_level": null,
          "aa_start": 187,
          "aa_end": null,
          "aa_length": 442,
          "cds_start": 560,
          "cds_end": null,
          "cds_length": 1329,
          "cdna_start": 926,
          "cdna_end": null,
          "cdna_length": 5983,
          "mane_select": "NM_001388067.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000684589.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MIPOL1",
          "gene_hgnc_id": 21460,
          "hgvs_c": "c.560T>C",
          "hgvs_p": "p.Leu187Ser",
          "transcript": "ENST00000327441.11",
          "protein_id": "ENSP00000333539.7",
          "transcript_support_level": 1,
          "aa_start": 187,
          "aa_end": null,
          "aa_length": 442,
          "cds_start": 560,
          "cds_end": null,
          "cds_length": 1329,
          "cdna_start": 1026,
          "cdna_end": null,
          "cdna_length": 7185,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000327441.11"
        },
        {
          "aa_ref": "L",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MIPOL1",
          "gene_hgnc_id": 21460,
          "hgvs_c": "c.560T>C",
          "hgvs_p": "p.Leu187Ser",
          "transcript": "ENST00000396294.7",
          "protein_id": "ENSP00000379589.2",
          "transcript_support_level": 1,
          "aa_start": 187,
          "aa_end": null,
          "aa_length": 442,
          "cds_start": 560,
          "cds_end": null,
          "cds_length": 1329,
          "cdna_start": 1151,
          "cdna_end": null,
          "cdna_length": 2502,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000396294.7"
        },
        {
          "aa_ref": "L",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MIPOL1",
          "gene_hgnc_id": 21460,
          "hgvs_c": "c.467T>C",
          "hgvs_p": "p.Leu156Ser",
          "transcript": "ENST00000556451.5",
          "protein_id": "ENSP00000450479.1",
          "transcript_support_level": 1,
          "aa_start": 156,
          "aa_end": null,
          "aa_length": 424,
          "cds_start": 467,
          "cds_end": null,
          "cds_length": 1275,
          "cdna_start": 1088,
          "cdna_end": null,
          "cdna_length": 2282,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000556451.5"
        },
        {
          "aa_ref": "L",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MIPOL1",
          "gene_hgnc_id": 21460,
          "hgvs_c": "c.467T>C",
          "hgvs_p": "p.Leu156Ser",
          "transcript": "ENST00000539062.6",
          "protein_id": "ENSP00000438319.2",
          "transcript_support_level": 1,
          "aa_start": 156,
          "aa_end": null,
          "aa_length": 411,
          "cds_start": 467,
          "cds_end": null,
          "cds_length": 1236,
          "cdna_start": 928,
          "cdna_end": null,
          "cdna_length": 2389,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000539062.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "MIPOL1",
          "gene_hgnc_id": 21460,
          "hgvs_c": "n.400+14859T>C",
          "hgvs_p": null,
          "transcript": "ENST00000555870.5",
          "protein_id": "ENSP00000452478.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7434,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000555870.5"
        },
        {
          "aa_ref": "L",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MIPOL1",
          "gene_hgnc_id": 21460,
          "hgvs_c": "c.560T>C",
          "hgvs_p": "p.Leu187Ser",
          "transcript": "NM_001388069.1",
          "protein_id": "NP_001374998.1",
          "transcript_support_level": null,
          "aa_start": 187,
          "aa_end": null,
          "aa_length": 519,
          "cds_start": 560,
          "cds_end": null,
          "cds_length": 1560,
          "cdna_start": 926,
          "cdna_end": null,
          "cdna_length": 3508,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001388069.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MIPOL1",
          "gene_hgnc_id": 21460,
          "hgvs_c": "c.560T>C",
          "hgvs_p": "p.Leu187Ser",
          "transcript": "ENST00000694964.1",
          "protein_id": "ENSP00000511967.1",
          "transcript_support_level": null,
          "aa_start": 187,
          "aa_end": null,
          "aa_length": 519,
          "cds_start": 560,
          "cds_end": null,
          "cds_length": 1560,
          "cdna_start": 1191,
          "cdna_end": null,
          "cdna_length": 3740,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000694964.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MIPOL1",
          "gene_hgnc_id": 21460,
          "hgvs_c": "c.560T>C",
          "hgvs_p": "p.Leu187Ser",
          "transcript": "ENST00000931731.1",
          "protein_id": "ENSP00000601790.1",
          "transcript_support_level": null,
          "aa_start": 187,
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          "aa_length": 502,
          "cds_start": 560,
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          "cds_length": 1509,
          "cdna_start": 819,
          "cdna_end": null,
          "cdna_length": 2450,
          "mane_select": null,
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          "biotype": "protein_coding",
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        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MIPOL1",
          "gene_hgnc_id": 21460,
          "hgvs_c": "c.560T>C",
          "hgvs_p": "p.Leu187Ser",
          "transcript": "ENST00000909324.1",
          "protein_id": "ENSP00000579383.1",
          "transcript_support_level": null,
          "aa_start": 187,
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          "aa_length": 489,
          "cds_start": 560,
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          "cds_length": 1470,
          "cdna_start": 1211,
          "cdna_end": null,
          "cdna_length": 2867,
          "mane_select": null,
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        {
          "aa_ref": "L",
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 7,
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          "exon_count": 14,
          "intron_rank": null,
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          "gene_symbol": "MIPOL1",
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          "hgvs_c": "c.560T>C",
          "hgvs_p": "p.Leu187Ser",
          "transcript": "ENST00000909326.1",
          "protein_id": "ENSP00000579385.1",
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          "cds_start": 560,
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          "cdna_start": 950,
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          "mane_select": null,
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        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 8,
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          "intron_rank": null,
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          "gene_symbol": "MIPOL1",
          "gene_hgnc_id": 21460,
          "hgvs_c": "c.560T>C",
          "hgvs_p": "p.Leu187Ser",
          "transcript": "ENST00000909329.1",
          "protein_id": "ENSP00000579388.1",
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          "biotype": "protein_coding",
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        {
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 10,
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          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "MIPOL1",
          "gene_hgnc_id": 21460,
          "hgvs_c": "c.560T>C",
          "hgvs_p": "p.Leu187Ser",
          "transcript": "ENST00000971101.1",
          "protein_id": "ENSP00000641160.1",
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        {
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          "gene_symbol": "MIPOL1",
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          "biotype": "protein_coding",
          "feature": "ENST00000971106.1"
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        {
          "aa_ref": "L",
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          "gene_symbol": "MIPOL1",
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          "hgvs_p": "p.Leu187Ser",
          "transcript": "ENST00000971108.1",
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        {
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          "intron_rank": null,
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          "gene_symbol": "MIPOL1",
          "gene_hgnc_id": 21460,
          "hgvs_c": "c.467T>C",
          "hgvs_p": "p.Leu156Ser",
          "transcript": "ENST00000694965.1",
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          "gene_symbol": "MIPOL1",
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "L",
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          "strand": true,
          "consequences": [
            "missense_variant"
          ],
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          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MIPOL1",
          "gene_hgnc_id": 21460,
          "hgvs_c": "c.560T>C",
          "hgvs_p": "p.Leu187Ser",
          "transcript": "ENST00000909322.1",
          "protein_id": "ENSP00000579381.1",
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          "hgvs_p": null,
          "transcript": "ENST00000694962.1",
          "protein_id": "ENSP00000511620.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2513,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000694962.1"
        }
      ],
      "gene_symbol": "MIPOL1",
      "gene_hgnc_id": 21460,
      "dbsnp": "rs148370995",
      "frequency_reference_population": 0.000009913983,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 16,
      "gnomad_exomes_af": 0.00000205226,
      "gnomad_genomes_af": 0.0000854813,
      "gnomad_exomes_ac": 3,
      "gnomad_genomes_ac": 13,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.6406705379486084,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.281,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.4418,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0,
      "bayesdelnoaf_prediction": "Uncertain_significance",
      "phylop100way_score": 6.281,
      "phylop100way_prediction": "Uncertain_significance",
      "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": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 0,
          "pathogenic_score": 0,
          "criteria": [],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001388069.1",
          "gene_symbol": "MIPOL1",
          "hgnc_id": 21460,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.560T>C",
          "hgvs_p": "p.Leu187Ser"
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}
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