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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: 11-47408638-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47408638&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 47408638,
      "ref": "G",
      "alt": "C",
      "effect": "5_prime_UTR_variant",
      "transcript": "NM_001128225.3",
      "consequences": [
        {
          "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": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.-33G>C",
          "hgvs_p": null,
          "transcript": "NM_001128225.3",
          "protein_id": "NP_001121697.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 371,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1116,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000362021.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001128225.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.-33G>C",
          "hgvs_p": null,
          "transcript": "ENST00000362021.9",
          "protein_id": "ENSP00000354689.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 371,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1116,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001128225.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000362021.9"
        },
        {
          "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": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.-54G>C",
          "hgvs_p": null,
          "transcript": "ENST00000354884.8",
          "protein_id": "ENSP00000346956.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 364,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1095,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000354884.8"
        },
        {
          "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": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.-33G>C",
          "hgvs_p": null,
          "transcript": "ENST00000968896.1",
          "protein_id": "ENSP00000638955.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 454,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1365,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000968896.1"
        },
        {
          "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": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.-33G>C",
          "hgvs_p": null,
          "transcript": "ENST00000869742.1",
          "protein_id": "ENSP00000539801.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 385,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1158,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000869742.1"
        },
        {
          "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": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.-204G>C",
          "hgvs_p": null,
          "transcript": "ENST00000968897.1",
          "protein_id": "ENSP00000638956.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 385,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1158,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000968897.1"
        },
        {
          "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": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.-33G>C",
          "hgvs_p": null,
          "transcript": "ENST00000968898.1",
          "protein_id": "ENSP00000638957.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 384,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1155,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000968898.1"
        },
        {
          "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": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.-33G>C",
          "hgvs_p": null,
          "transcript": "ENST00000968900.1",
          "protein_id": "ENSP00000638959.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 371,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1116,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000968900.1"
        },
        {
          "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": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.-112G>C",
          "hgvs_p": null,
          "transcript": "NM_001441271.1",
          "protein_id": "NP_001428200.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 364,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1095,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001441271.1"
        },
        {
          "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": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.-54G>C",
          "hgvs_p": null,
          "transcript": "NM_152264.5",
          "protein_id": "NP_689477.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 364,
          "cds_start": null,
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          "cds_length": 1095,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_152264.5"
        },
        {
          "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": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.-33G>C",
          "hgvs_p": null,
          "transcript": "ENST00000869741.1",
          "protein_id": "ENSP00000539800.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 364,
          "cds_start": null,
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          "cds_length": 1095,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000869741.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
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          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC39A13",
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          "hgvs_c": "c.-217G>C",
          "hgvs_p": null,
          "transcript": "ENST00000911864.1",
          "protein_id": "ENSP00000581923.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
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            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
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          "intron_rank": null,
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          "gene_symbol": "SLC39A13",
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          "hgvs_c": "c.-255G>C",
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          "transcript": "ENST00000911865.1",
          "protein_id": "ENSP00000581924.1",
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        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.-112G>C",
          "hgvs_p": null,
          "transcript": "ENST00000911866.1",
          "protein_id": "ENSP00000581925.1",
          "transcript_support_level": null,
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        {
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          "transcript": "ENST00000968895.1",
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          "feature": "ENST00000968895.1"
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        {
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          "consequences": [
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          ],
          "exon_rank": 1,
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          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.-33G>C",
          "hgvs_p": null,
          "transcript": "ENST00000968891.1",
          "protein_id": "ENSP00000638950.1",
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        {
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          ],
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          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "SLC39A13",
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          "hgvs_c": "c.-33G>C",
          "hgvs_p": null,
          "transcript": "ENST00000968892.1",
          "protein_id": "ENSP00000638951.1",
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        {
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          "gene_symbol": "SLC39A13",
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        {
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          "transcript": "ENST00000968894.1",
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        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC39A13",
          "gene_hgnc_id": 20859,
          "hgvs_c": "c.-33G>C",
          "hgvs_p": null,
          "transcript": "NM_001441273.1",
          "protein_id": "NP_001428202.1",
          "transcript_support_level": null,
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          "aa_length": 334,
          "cds_start": null,
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          "cds_length": 1005,
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        },
        {
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      "gene_hgnc_id": 20859,
      "dbsnp": "rs538845170",
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      "allele_count_reference_population": 163,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.00118406,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 163,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 1,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.28999999165534973,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.29,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.398,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
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      "apogee2_score": null,
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      "mitotip_score": null,
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      "acmg_score": -4,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP4_Moderate,BP6_Moderate",
      "acmg_by_gene": [
        {
          "score": -4,
          "benign_score": 4,
          "pathogenic_score": 0,
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            "BP6_Moderate"
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          "verdict": "Likely_benign",
          "transcript": "NM_001128225.3",
          "gene_symbol": "SLC39A13",
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          "effects": [
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          "inheritance_mode": "AR",
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        },
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate",
            "BP6_Moderate",
            "BS1",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000713543.1",
          "gene_symbol": "SPI1",
          "hgnc_id": 11241,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.-1779+314C>G",
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        },
        {
          "score": -4,
          "benign_score": 4,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate",
            "BP6_Moderate"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000532943.5",
          "gene_symbol": "SLC39A13-AS1",
          "hgnc_id": 56351,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.141+314C>G",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}