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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: 7-152094085-T-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=152094085&ref=T&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 152094085,
      "ref": "T",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "NM_001371464.1",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GALNT11",
          "gene_hgnc_id": 19875,
          "hgvs_c": "c.-38-105T>G",
          "hgvs_p": null,
          "transcript": "NM_022087.4",
          "protein_id": "NP_071370.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 608,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1827,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000430044.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_022087.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GALNT11",
          "gene_hgnc_id": 19875,
          "hgvs_c": "c.-38-105T>G",
          "hgvs_p": null,
          "transcript": "ENST00000430044.7",
          "protein_id": "ENSP00000395122.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 608,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1827,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_022087.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000430044.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GALNT11",
          "gene_hgnc_id": 19875,
          "hgvs_c": "c.-38-105T>G",
          "hgvs_p": null,
          "transcript": "ENST00000415421.5",
          "protein_id": "ENSP00000410093.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 202,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 609,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000415421.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GALNT11",
          "gene_hgnc_id": 19875,
          "hgvs_c": "c.-143T>G",
          "hgvs_p": null,
          "transcript": "ENST00000447796.1",
          "protein_id": "ENSP00000412142.1",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 159,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 480,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000447796.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GALNT11",
          "gene_hgnc_id": 19875,
          "hgvs_c": "c.-38-105T>G",
          "hgvs_p": null,
          "transcript": "NM_001371464.1",
          "protein_id": "NP_001358393.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 667,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2004,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001371464.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GALNT11",
          "gene_hgnc_id": 19875,
          "hgvs_c": "c.-38-105T>G",
          "hgvs_p": null,
          "transcript": "NM_001371458.1",
          "protein_id": "NP_001358387.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 608,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1827,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001371458.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GALNT11",
          "gene_hgnc_id": 19875,
          "hgvs_c": "c.-38-105T>G",
          "hgvs_p": null,
          "transcript": "NM_001371459.1",
          "protein_id": "NP_001358388.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 608,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1827,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001371459.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GALNT11",
          "gene_hgnc_id": 19875,
          "hgvs_c": "c.-38-105T>G",
          "hgvs_p": null,
          "transcript": "NM_001371460.1",
          "protein_id": "NP_001358389.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 608,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1827,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001371460.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GALNT11",
          "gene_hgnc_id": 19875,
          "hgvs_c": "c.-38-105T>G",
          "hgvs_p": null,
          "transcript": "NM_001371461.1",
          "protein_id": "NP_001358390.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 608,
          "cds_start": null,
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          "cds_length": 1827,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001371461.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 13,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GALNT11",
          "gene_hgnc_id": 19875,
          "hgvs_c": "c.-38-105T>G",
          "hgvs_p": null,
          "transcript": "NM_001371462.1",
          "protein_id": "NP_001358391.1",
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          "cds_start": null,
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          "cdna_start": null,
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        {
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          "canonical": false,
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          "consequences": [
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          ],
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          "gene_symbol": "GALNT11",
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          "hgvs_c": "c.-38-105T>G",
          "hgvs_p": null,
          "transcript": "NM_001371463.1",
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          "aa_start": null,
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          "aa_length": 608,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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        {
          "aa_ref": null,
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          "canonical": false,
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          "gene_symbol": "GALNT11",
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          "hgvs_c": "c.-38-105T>G",
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        {
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        {
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        {
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          "gene_symbol": "GALNT11",
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          "gene_symbol": "GALNT11",
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          "hgvs_c": "c.-38-105T>G",
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        {
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        {
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        {
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      ],
      "gene_symbol": "GALNT11",
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      "dbsnp": "rs17173334",
      "frequency_reference_population": 0.04080719,
      "hom_count_reference_population": 1663,
      "allele_count_reference_population": 35736,
      "gnomad_exomes_af": 0.0400345,
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      "gnomad_genomes_homalt": 266,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8399999737739563,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.006000000052154064,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "dbscSNV1_RF",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.84,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.801,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": 0.0000515941453541388,
      "dbscsnv_ada_prediction": "Benign",
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_001371464.1",
          "gene_symbol": "GALNT11",
          "hgnc_id": 19875,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.-38-105T>G",
          "hgvs_p": null
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      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}