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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: 16-15598914-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=15598914&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 15598914,
      "ref": "G",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_014647.4",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4924C>A",
          "hgvs_p": "p.Pro1642Thr",
          "transcript": "NM_014647.4",
          "protein_id": "NP_055462.2",
          "transcript_support_level": null,
          "aa_start": 1642,
          "aa_end": null,
          "aa_length": 1742,
          "cds_start": 4924,
          "cds_end": null,
          "cds_length": 5229,
          "cdna_start": 5119,
          "cdna_end": null,
          "cdna_length": 7730,
          "mane_select": "ENST00000396368.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4924C>A",
          "hgvs_p": "p.Pro1642Thr",
          "transcript": "ENST00000396368.8",
          "protein_id": "ENSP00000379654.3",
          "transcript_support_level": 1,
          "aa_start": 1642,
          "aa_end": null,
          "aa_length": 1742,
          "cds_start": 4924,
          "cds_end": null,
          "cds_length": 5229,
          "cdna_start": 5119,
          "cdna_end": null,
          "cdna_length": 7730,
          "mane_select": "NM_014647.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4924C>A",
          "hgvs_p": "p.Pro1642Thr",
          "transcript": "ENST00000551742.5",
          "protein_id": "ENSP00000450309.1",
          "transcript_support_level": 1,
          "aa_start": 1642,
          "aa_end": null,
          "aa_length": 1742,
          "cds_start": 4924,
          "cds_end": null,
          "cds_length": 5229,
          "cdna_start": 5073,
          "cdna_end": null,
          "cdna_length": 5900,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4915C>A",
          "hgvs_p": "p.Pro1639Thr",
          "transcript": "ENST00000548025.5",
          "protein_id": "ENSP00000449376.1",
          "transcript_support_level": 1,
          "aa_start": 1639,
          "aa_end": null,
          "aa_length": 1739,
          "cds_start": 4915,
          "cds_end": null,
          "cds_length": 5220,
          "cdna_start": 5064,
          "cdna_end": null,
          "cdna_length": 5891,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4924C>A",
          "hgvs_p": "p.Pro1642Thr",
          "transcript": "NM_001184998.2",
          "protein_id": "NP_001171927.1",
          "transcript_support_level": null,
          "aa_start": 1642,
          "aa_end": null,
          "aa_length": 1742,
          "cds_start": 4924,
          "cds_end": null,
          "cds_length": 5229,
          "cdna_start": 5119,
          "cdna_end": null,
          "cdna_length": 7730,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4915C>A",
          "hgvs_p": "p.Pro1639Thr",
          "transcript": "NM_001184999.2",
          "protein_id": "NP_001171928.1",
          "transcript_support_level": null,
          "aa_start": 1639,
          "aa_end": null,
          "aa_length": 1739,
          "cds_start": 4915,
          "cds_end": null,
          "cds_length": 5220,
          "cdna_start": 5110,
          "cdna_end": null,
          "cdna_length": 7721,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4429C>A",
          "hgvs_p": "p.Pro1477Thr",
          "transcript": "ENST00000540441.6",
          "protein_id": "ENSP00000439819.2",
          "transcript_support_level": 5,
          "aa_start": 1477,
          "aa_end": null,
          "aa_length": 1577,
          "cds_start": 4429,
          "cds_end": null,
          "cds_length": 4734,
          "cdna_start": 4494,
          "cdna_end": null,
          "cdna_length": 7105,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4927C>A",
          "hgvs_p": "p.Pro1643Thr",
          "transcript": "XM_005255704.2",
          "protein_id": "XP_005255761.1",
          "transcript_support_level": null,
          "aa_start": 1643,
          "aa_end": null,
          "aa_length": 1743,
          "cds_start": 4927,
          "cds_end": null,
          "cds_length": 5232,
          "cdna_start": 5122,
          "cdna_end": null,
          "cdna_length": 7733,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4927C>A",
          "hgvs_p": "p.Pro1643Thr",
          "transcript": "XM_017023900.3",
          "protein_id": "XP_016879389.1",
          "transcript_support_level": null,
          "aa_start": 1643,
          "aa_end": null,
          "aa_length": 1743,
          "cds_start": 4927,
          "cds_end": null,
          "cds_length": 5232,
          "cdna_start": 5149,
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          "cdna_length": 7760,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
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          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4924C>A",
          "hgvs_p": "p.Pro1642Thr",
          "transcript": "XM_017023901.3",
          "protein_id": "XP_016879390.1",
          "transcript_support_level": null,
          "aa_start": 1642,
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          "aa_length": 1742,
          "cds_start": 4924,
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          "cdna_start": 5146,
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          "mane_select": null,
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        },
        {
          "aa_ref": "P",
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          "strand": false,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4924C>A",
          "hgvs_p": "p.Pro1642Thr",
          "transcript": "XM_047434938.1",
          "protein_id": "XP_047290894.1",
          "transcript_support_level": null,
          "aa_start": 1642,
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          "aa_length": 1742,
          "cds_start": 4924,
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          "cds_length": 5229,
          "cdna_start": 5146,
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        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          "exon_rank": 26,
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          "intron_rank": null,
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          "gene_symbol": "MARF1",
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        {
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          "gene_symbol": "MARF1",
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          "hgvs_c": "c.4921C>A",
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        {
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          "intron_rank": null,
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          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
          "hgvs_c": "c.4897C>A",
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          "transcript": "XM_005255707.3",
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        {
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        {
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          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
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          "transcript": "XM_047434941.1",
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        {
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          "transcript": "XM_047434942.1",
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          "gene_symbol": "MARF1",
          "gene_hgnc_id": 29562,
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          "transcript": "XM_047434944.1",
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        {
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          ],
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 568,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "MARF1",
      "gene_hgnc_id": 29562,
      "dbsnp": "rs986361943",
      "frequency_reference_population": 0.0000013681126,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 2,
      "gnomad_exomes_af": 0.00000136811,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 2,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.7362282276153564,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.009999999776482582,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.515,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.2408,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.24,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 6.95,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0.01,
      "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": 2,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2",
      "acmg_by_gene": [
        {
          "score": 2,
          "benign_score": 0,
          "pathogenic_score": 2,
          "criteria": [
            "PM2"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_014647.4",
          "gene_symbol": "MARF1",
          "hgnc_id": 29562,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.4924C>A",
          "hgvs_p": "p.Pro1642Thr"
        },
        {
          "score": 2,
          "benign_score": 0,
          "pathogenic_score": 2,
          "criteria": [
            "PM2"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000565857.1",
          "gene_symbol": "BMERB1",
          "hgnc_id": 19213,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.*12+7799G>T",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}