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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: 9-121310319-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=121310319&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 121310319,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "NM_000177.5",
      "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": 18,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GSN",
          "gene_hgnc_id": 4620,
          "hgvs_c": "c.352-365C>T",
          "hgvs_p": null,
          "transcript": "NM_198252.3",
          "protein_id": "NP_937895.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 731,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2196,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000432226.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_198252.3"
        },
        {
          "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": 18,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GSN",
          "gene_hgnc_id": 4620,
          "hgvs_c": "c.352-365C>T",
          "hgvs_p": null,
          "transcript": "ENST00000432226.7",
          "protein_id": "ENSP00000404226.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 731,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2196,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_198252.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000432226.7"
        },
        {
          "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": 17,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GSN",
          "gene_hgnc_id": 4620,
          "hgvs_c": "c.505-365C>T",
          "hgvs_p": null,
          "transcript": "ENST00000373818.8",
          "protein_id": "ENSP00000362924.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 782,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2349,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000373818.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GSN",
          "gene_hgnc_id": 4620,
          "hgvs_c": "n.1949C>T",
          "hgvs_p": null,
          "transcript": "ENST00000485767.1",
          "protein_id": null,
          "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": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000485767.1"
        },
        {
          "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": 19,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GSN",
          "gene_hgnc_id": 4620,
          "hgvs_c": "c.352-365C>T",
          "hgvs_p": null,
          "transcript": "ENST00000900575.1",
          "protein_id": "ENSP00000570634.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 784,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2355,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000900575.1"
        },
        {
          "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": 17,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GSN",
          "gene_hgnc_id": 4620,
          "hgvs_c": "c.505-365C>T",
          "hgvs_p": null,
          "transcript": "NM_000177.5",
          "protein_id": "NP_000168.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 782,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2349,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000177.5"
        },
        {
          "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": 19,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "GSN",
          "gene_hgnc_id": 4620,
          "hgvs_c": "c.460-365C>T",
          "hgvs_p": null,
          "transcript": "NM_001127663.2",
          "protein_id": "NP_001121135.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 767,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2304,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001127663.2"
        },
        {
          "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": 19,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "GSN",
          "gene_hgnc_id": 4620,
          "hgvs_c": "c.460-365C>T",
          "hgvs_p": null,
          "transcript": "ENST00000449733.7",
          "protein_id": "ENSP00000409358.2",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 767,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2304,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000449733.7"
        },
        {
          "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": 18,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GSN",
          "gene_hgnc_id": 4620,
          "hgvs_c": "c.460-365C>T",
          "hgvs_p": null,
          "transcript": "ENST00000900632.1",
          "protein_id": "ENSP00000570691.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 767,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2304,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000900632.1"
        },
        {
          "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": 20,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "GSN",
          "gene_hgnc_id": 4620,
          "hgvs_c": "c.460-365C>T",
          "hgvs_p": null,
          "transcript": "ENST00000972572.1",
          "protein_id": "ENSP00000642631.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 767,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2304,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000972572.1"
        },
        {
          "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": 19,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "GSN",
          "gene_hgnc_id": 4620,
          "hgvs_c": "c.460-365C>T",
          "hgvs_p": null,
          "transcript": "ENST00000972579.1",
          "protein_id": "ENSP00000642638.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 767,
          "cds_start": null,
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          "cds_length": 2304,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000972579.1"
        },
        {
          "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": 18,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GSN",
          "gene_hgnc_id": 4620,
          "hgvs_c": "c.352-365C>T",
          "hgvs_p": null,
          "transcript": "ENST00000900633.1",
          "protein_id": "ENSP00000570692.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cds_length": 2289,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
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          "consequences": [
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          ],
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          "intron_rank": 3,
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          "gene_symbol": "GSN",
          "gene_hgnc_id": 4620,
          "hgvs_c": "c.352-365C>T",
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          "transcript": "ENST00000900641.1",
          "protein_id": "ENSP00000570700.1",
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          "aa_length": 759,
          "cds_start": null,
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          "cdna_start": null,
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        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
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          "exon_count": 17,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GSN",
          "gene_hgnc_id": 4620,
          "hgvs_c": "c.352-365C>T",
          "hgvs_p": null,
          "transcript": "ENST00000972669.1",
          "protein_id": "ENSP00000642728.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 759,
          "cds_start": null,
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          "cdna_start": null,
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        {
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          "gene_symbol": "GSN",
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          "hgvs_c": "c.352-365C>T",
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          "biotype": "protein_coding",
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        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
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          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GSN",
          "gene_hgnc_id": 4620,
          "hgvs_c": "c.352-365C>T",
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          "transcript": "ENST00000900635.1",
          "protein_id": "ENSP00000570694.1",
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          "cds_start": null,
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        {
          "aa_ref": null,
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          "canonical": false,
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          "intron_rank_end": null,
          "gene_symbol": "GSN",
          "gene_hgnc_id": 4620,
          "hgvs_c": "c.352-365C>T",
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          "transcript": "ENST00000972628.1",
          "protein_id": "ENSP00000642687.1",
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          "cds_length": 2274,
          "cdna_start": null,
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        },
        {
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          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "GSN",
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          "hgvs_c": "c.424-365C>T",
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          "protein_id": "NP_001340005.1",
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        },
        {
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          "canonical": false,
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          "intron_rank": 4,
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          "gene_symbol": "GSN",
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          "hgvs_c": "c.424-365C>T",
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          "transcript": "ENST00000699558.1",
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          "biotype": "protein_coding",
          "feature": "ENST00000699558.1"
        },
        {
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          "consequences": [
            "intron_variant"
          ],
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          "exon_count": 18,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GSN",
          "gene_hgnc_id": 4620,
          "hgvs_c": "c.352-365C>T",
          "hgvs_p": null,
          "transcript": "ENST00000900584.1",
          "protein_id": "ENSP00000570643.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 753,
          "cds_start": null,
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          "cds_length": 2262,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000900584.1"
        },
        {
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          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
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          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000483960.5"
        }
      ],
      "gene_symbol": "GSN",
      "gene_hgnc_id": 4620,
      "dbsnp": "rs306783",
      "frequency_reference_population": 0.40008143,
      "hom_count_reference_population": 28035,
      "allele_count_reference_population": 133640,
      "gnomad_exomes_af": 0.38901,
      "gnomad_genomes_af": 0.413351,
      "gnomad_exomes_ac": 70838,
      "gnomad_genomes_ac": 62802,
      "gnomad_exomes_homalt": 14613,
      "gnomad_genomes_homalt": 13422,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8100000023841858,
      "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": -0.81,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.448,
      "phylop100way_prediction": "Benign",
      "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": -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_000177.5",
          "gene_symbol": "GSN",
          "hgnc_id": 4620,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD,AR",
          "hgvs_c": "c.505-365C>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
}