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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: 5-176629555-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=176629555&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 176629555,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_003085.5",
      "consequences": [
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SNCB",
          "gene_hgnc_id": 11140,
          "hgvs_c": "c.100A>G",
          "hgvs_p": "p.Lys34Glu",
          "transcript": "NM_003085.5",
          "protein_id": "NP_003076.1",
          "transcript_support_level": null,
          "aa_start": 34,
          "aa_end": null,
          "aa_length": 134,
          "cds_start": 100,
          "cds_end": null,
          "cds_length": 405,
          "cdna_start": 364,
          "cdna_end": null,
          "cdna_length": 1398,
          "mane_select": "ENST00000393693.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_003085.5"
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SNCB",
          "gene_hgnc_id": 11140,
          "hgvs_c": "c.100A>G",
          "hgvs_p": "p.Lys34Glu",
          "transcript": "ENST00000393693.7",
          "protein_id": "ENSP00000377296.2",
          "transcript_support_level": 1,
          "aa_start": 34,
          "aa_end": null,
          "aa_length": 134,
          "cds_start": 100,
          "cds_end": null,
          "cds_length": 405,
          "cdna_start": 364,
          "cdna_end": null,
          "cdna_length": 1398,
          "mane_select": "NM_003085.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000393693.7"
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SNCB",
          "gene_hgnc_id": 11140,
          "hgvs_c": "c.100A>G",
          "hgvs_p": "p.Lys34Glu",
          "transcript": "ENST00000310112.7",
          "protein_id": "ENSP00000308057.3",
          "transcript_support_level": 1,
          "aa_start": 34,
          "aa_end": null,
          "aa_length": 134,
          "cds_start": 100,
          "cds_end": null,
          "cds_length": 405,
          "cdna_start": 351,
          "cdna_end": null,
          "cdna_length": 1383,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000310112.7"
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SNCB",
          "gene_hgnc_id": 11140,
          "hgvs_c": "c.100A>G",
          "hgvs_p": "p.Lys34Glu",
          "transcript": "ENST00000614675.4",
          "protein_id": "ENSP00000479489.1",
          "transcript_support_level": 1,
          "aa_start": 34,
          "aa_end": null,
          "aa_length": 120,
          "cds_start": 100,
          "cds_end": null,
          "cds_length": 363,
          "cdna_start": 543,
          "cdna_end": null,
          "cdna_length": 1407,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000614675.4"
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SNCB",
          "gene_hgnc_id": 11140,
          "hgvs_c": "c.100A>G",
          "hgvs_p": "p.Lys34Glu",
          "transcript": "ENST00000912557.1",
          "protein_id": "ENSP00000582616.1",
          "transcript_support_level": null,
          "aa_start": 34,
          "aa_end": null,
          "aa_length": 195,
          "cds_start": 100,
          "cds_end": null,
          "cds_length": 588,
          "cdna_start": 370,
          "cdna_end": null,
          "cdna_length": 1459,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000912557.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SNCB",
          "gene_hgnc_id": 11140,
          "hgvs_c": "c.100A>G",
          "hgvs_p": "p.Lys34Glu",
          "transcript": "NM_001001502.3",
          "protein_id": "NP_001001502.1",
          "transcript_support_level": null,
          "aa_start": 34,
          "aa_end": null,
          "aa_length": 134,
          "cds_start": 100,
          "cds_end": null,
          "cds_length": 405,
          "cdna_start": 521,
          "cdna_end": null,
          "cdna_length": 1555,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001001502.3"
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SNCB",
          "gene_hgnc_id": 11140,
          "hgvs_c": "c.100A>G",
          "hgvs_p": "p.Lys34Glu",
          "transcript": "NM_001363140.2",
          "protein_id": "NP_001350069.1",
          "transcript_support_level": null,
          "aa_start": 34,
          "aa_end": null,
          "aa_length": 134,
          "cds_start": 100,
          "cds_end": null,
          "cds_length": 405,
          "cdna_start": 419,
          "cdna_end": null,
          "cdna_length": 1453,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001363140.2"
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SNCB",
          "gene_hgnc_id": 11140,
          "hgvs_c": "c.100A>G",
          "hgvs_p": "p.Lys34Glu",
          "transcript": "ENST00000506696.1",
          "protein_id": "ENSP00000422223.1",
          "transcript_support_level": 5,
          "aa_start": 34,
          "aa_end": null,
          "aa_length": 134,
          "cds_start": 100,
          "cds_end": null,
          "cds_length": 405,
          "cdna_start": 221,
          "cdna_end": null,
          "cdna_length": 552,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000506696.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SNCB",
          "gene_hgnc_id": 11140,
          "hgvs_c": "c.100A>G",
          "hgvs_p": "p.Lys34Glu",
          "transcript": "ENST00000510387.5",
          "protein_id": "ENSP00000424073.1",
          "transcript_support_level": 2,
          "aa_start": 34,
          "aa_end": null,
          "aa_length": 134,
          "cds_start": 100,
          "cds_end": null,
          "cds_length": 405,
          "cdna_start": 295,
          "cdna_end": null,
          "cdna_length": 730,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000510387.5"
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SNCB",
          "gene_hgnc_id": 11140,
          "hgvs_c": "c.100A>G",
          "hgvs_p": "p.Lys34Glu",
          "transcript": "ENST00000862608.1",
          "protein_id": "ENSP00000532667.1",
          "transcript_support_level": null,
          "aa_start": 34,
          "aa_end": null,
          "aa_length": 134,
          "cds_start": 100,
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          "cds_length": 405,
          "cdna_start": 557,
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          "cdna_length": 1584,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "K",
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SNCB",
          "gene_hgnc_id": 11140,
          "hgvs_c": "c.100A>G",
          "hgvs_p": "p.Lys34Glu",
          "transcript": "ENST00000862609.1",
          "protein_id": "ENSP00000532668.1",
          "transcript_support_level": null,
          "aa_start": 34,
          "aa_end": null,
          "aa_length": 134,
          "cds_start": 100,
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          "cds_length": 405,
          "cdna_start": 413,
          "cdna_end": null,
          "cdna_length": 1318,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000862609.1"
        },
        {
          "aa_ref": "K",
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
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          "gene_symbol": "SNCB",
          "gene_hgnc_id": 11140,
          "hgvs_c": "c.100A>G",
          "hgvs_p": "p.Lys34Glu",
          "transcript": "ENST00000862611.1",
          "protein_id": "ENSP00000532670.1",
          "transcript_support_level": null,
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          "cds_start": 100,
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          "cdna_start": 966,
          "cdna_end": null,
          "cdna_length": 1873,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
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          "consequences": [
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          ],
          "exon_rank": 2,
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          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "SNCB",
          "gene_hgnc_id": 11140,
          "hgvs_c": "c.100A>G",
          "hgvs_p": "p.Lys34Glu",
          "transcript": "ENST00000912556.1",
          "protein_id": "ENSP00000582615.1",
          "transcript_support_level": null,
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          "cdna_start": 704,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
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          "protein_coding": true,
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          "consequences": [
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          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "SNCB",
          "gene_hgnc_id": 11140,
          "hgvs_c": "c.100A>G",
          "hgvs_p": "p.Lys34Glu",
          "transcript": "ENST00000912558.1",
          "protein_id": "ENSP00000582617.1",
          "transcript_support_level": null,
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          "cdna_start": 550,
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        },
        {
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          ],
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          "gene_symbol": "SNCB",
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          "hgvs_c": "c.100A>G",
          "hgvs_p": "p.Lys34Glu",
          "transcript": "ENST00000912559.1",
          "protein_id": "ENSP00000582618.1",
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          "cds_start": 100,
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          "cdna_length": 1376,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000912559.1"
        },
        {
          "aa_ref": "K",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 2,
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          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "SNCB",
          "gene_hgnc_id": 11140,
          "hgvs_c": "c.100A>G",
          "hgvs_p": "p.Lys34Glu",
          "transcript": "ENST00000946187.1",
          "protein_id": "ENSP00000616246.1",
          "transcript_support_level": null,
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          "cds_start": 100,
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          "cdna_start": 438,
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          "biotype": "protein_coding",
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        {
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          "strand": false,
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          ],
          "exon_rank": 3,
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          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "SNCB",
          "gene_hgnc_id": 11140,
          "hgvs_c": "c.100A>G",
          "hgvs_p": "p.Lys34Glu",
          "transcript": "ENST00000946191.1",
          "protein_id": "ENSP00000616250.1",
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        {
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          "gene_symbol": "SNCB",
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          "transcript": "ENST00000946192.1",
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        {
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          "gene_symbol": "SNCB",
          "gene_hgnc_id": 11140,
          "hgvs_c": "c.100A>G",
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          "transcript": "ENST00000946194.1",
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          "biotype": "protein_coding",
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        },
        {
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          "consequences": [
            "missense_variant"
          ],
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          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SNCB",
          "gene_hgnc_id": 11140,
          "hgvs_c": "c.100A>G",
          "hgvs_p": "p.Lys34Glu",
          "transcript": "ENST00000946195.1",
          "protein_id": "ENSP00000616254.1",
          "transcript_support_level": null,
          "aa_start": 34,
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          "biotype": "protein_coding",
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        },
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      "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": 0.8962486386299133,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.858,
      "revel_prediction": "Pathogenic",
      "alphamissense_score": 0.9597,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.2,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 7.986,
      "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": 5,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,PP2,PP3_Moderate",
      "acmg_by_gene": [
        {
          "score": 5,
          "benign_score": 0,
          "pathogenic_score": 5,
          "criteria": [
            "PM2",
            "PP2",
            "PP3_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_003085.5",
          "gene_symbol": "SNCB",
          "hgnc_id": 11140,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "Unknown,AD",
          "hgvs_c": "c.100A>G",
          "hgvs_p": "p.Lys34Glu"
        },
        {
          "score": 4,
          "benign_score": 0,
          "pathogenic_score": 4,
          "criteria": [
            "PM2",
            "PP3_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NR_036239.1",
          "gene_symbol": "MIR4281",
          "hgnc_id": 38357,
          "effects": [
            "upstream_gene_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.-55A>G",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Lewy body dementia",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Lewy body dementia",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}
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