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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: 3-12600233-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=12600233&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 12600233,
      "ref": "T",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "NM_001354689.3",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.909A>G",
          "hgvs_p": "p.Thr303Thr",
          "transcript": "NM_002880.4",
          "protein_id": "NP_002871.1",
          "transcript_support_level": null,
          "aa_start": 303,
          "aa_end": null,
          "aa_length": 648,
          "cds_start": 909,
          "cds_end": null,
          "cds_length": 1947,
          "cdna_start": 1240,
          "cdna_end": null,
          "cdna_length": 3191,
          "mane_select": "ENST00000251849.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_002880.4"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.909A>G",
          "hgvs_p": "p.Thr303Thr",
          "transcript": "ENST00000251849.9",
          "protein_id": "ENSP00000251849.4",
          "transcript_support_level": 1,
          "aa_start": 303,
          "aa_end": null,
          "aa_length": 648,
          "cds_start": 909,
          "cds_end": null,
          "cds_length": 1947,
          "cdna_start": 1240,
          "cdna_end": null,
          "cdna_length": 3191,
          "mane_select": "NM_002880.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000251849.9"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.969A>G",
          "hgvs_p": "p.Thr323Thr",
          "transcript": "NM_001354689.3",
          "protein_id": "NP_001341618.1",
          "transcript_support_level": null,
          "aa_start": 323,
          "aa_end": null,
          "aa_length": 668,
          "cds_start": 969,
          "cds_end": null,
          "cds_length": 2007,
          "cdna_start": 1300,
          "cdna_end": null,
          "cdna_length": 3251,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001354689.3"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.969A>G",
          "hgvs_p": "p.Thr323Thr",
          "transcript": "ENST00000442415.7",
          "protein_id": "ENSP00000401888.2",
          "transcript_support_level": 5,
          "aa_start": 323,
          "aa_end": null,
          "aa_length": 668,
          "cds_start": 969,
          "cds_end": null,
          "cds_length": 2007,
          "cdna_start": 1300,
          "cdna_end": null,
          "cdna_length": 3251,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000442415.7"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.969A>G",
          "hgvs_p": "p.Thr323Thr",
          "transcript": "ENST00000900382.1",
          "protein_id": "ENSP00000570441.1",
          "transcript_support_level": null,
          "aa_start": 323,
          "aa_end": null,
          "aa_length": 668,
          "cds_start": 969,
          "cds_end": null,
          "cds_length": 2007,
          "cdna_start": 1095,
          "cdna_end": null,
          "cdna_length": 3046,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000900382.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.969A>G",
          "hgvs_p": "p.Thr323Thr",
          "transcript": "ENST00000941486.1",
          "protein_id": "ENSP00000611545.1",
          "transcript_support_level": null,
          "aa_start": 323,
          "aa_end": null,
          "aa_length": 668,
          "cds_start": 969,
          "cds_end": null,
          "cds_length": 2007,
          "cdna_start": 1400,
          "cdna_end": null,
          "cdna_length": 3343,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000941486.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.909A>G",
          "hgvs_p": "p.Thr303Thr",
          "transcript": "NM_001354690.3",
          "protein_id": "NP_001341619.1",
          "transcript_support_level": null,
          "aa_start": 303,
          "aa_end": null,
          "aa_length": 648,
          "cds_start": 909,
          "cds_end": null,
          "cds_length": 1947,
          "cdna_start": 1075,
          "cdna_end": null,
          "cdna_length": 3026,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001354690.3"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.909A>G",
          "hgvs_p": "p.Thr303Thr",
          "transcript": "ENST00000685653.1",
          "protein_id": "ENSP00000509968.1",
          "transcript_support_level": null,
          "aa_start": 303,
          "aa_end": null,
          "aa_length": 648,
          "cds_start": 909,
          "cds_end": null,
          "cds_length": 1947,
          "cdna_start": 2614,
          "cdna_end": null,
          "cdna_length": 4402,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000685653.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.909A>G",
          "hgvs_p": "p.Thr303Thr",
          "transcript": "ENST00000691899.1",
          "protein_id": "ENSP00000508763.1",
          "transcript_support_level": null,
          "aa_start": 303,
          "aa_end": null,
          "aa_length": 648,
          "cds_start": 909,
          "cds_end": null,
          "cds_length": 1947,
          "cdna_start": 1075,
          "cdna_end": null,
          "cdna_length": 2983,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000691899.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.909A>G",
          "hgvs_p": "p.Thr303Thr",
          "transcript": "ENST00000900375.1",
          "protein_id": "ENSP00000570434.1",
          "transcript_support_level": null,
          "aa_start": 303,
          "aa_end": null,
          "aa_length": 648,
          "cds_start": 909,
          "cds_end": null,
          "cds_length": 1947,
          "cdna_start": 1333,
          "cdna_end": null,
          "cdna_length": 3311,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000900375.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.909A>G",
          "hgvs_p": "p.Thr303Thr",
          "transcript": "ENST00000900377.1",
          "protein_id": "ENSP00000570436.1",
          "transcript_support_level": null,
          "aa_start": 303,
          "aa_end": null,
          "aa_length": 648,
          "cds_start": 909,
          "cds_end": null,
          "cds_length": 1947,
          "cdna_start": 1352,
          "cdna_end": null,
          "cdna_length": 3303,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000900377.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.909A>G",
          "hgvs_p": "p.Thr303Thr",
          "transcript": "ENST00000900381.1",
          "protein_id": "ENSP00000570440.1",
          "transcript_support_level": null,
          "aa_start": 303,
          "aa_end": null,
          "aa_length": 648,
          "cds_start": 909,
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          "cdna_start": 1099,
          "cdna_end": null,
          "cdna_length": 3043,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.909A>G",
          "hgvs_p": "p.Thr303Thr",
          "transcript": "ENST00000900383.1",
          "protein_id": "ENSP00000570442.1",
          "transcript_support_level": null,
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          "aa_length": 648,
          "cds_start": 909,
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          "cdna_start": 960,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000900383.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.909A>G",
          "hgvs_p": "p.Thr303Thr",
          "transcript": "ENST00000941484.1",
          "protein_id": "ENSP00000611543.1",
          "transcript_support_level": null,
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          "aa_length": 648,
          "cds_start": 909,
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          "cdna_start": 1725,
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          "mane_select": null,
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        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
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          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.909A>G",
          "hgvs_p": "p.Thr303Thr",
          "transcript": "ENST00000941488.1",
          "protein_id": "ENSP00000611547.1",
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          "aa_end": null,
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          "cdna_start": 1379,
          "cdna_end": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000941488.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.909A>G",
          "hgvs_p": "p.Thr303Thr",
          "transcript": "ENST00000941490.1",
          "protein_id": "ENSP00000611549.1",
          "transcript_support_level": null,
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          "aa_length": 648,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.909A>G",
          "hgvs_p": "p.Thr303Thr",
          "transcript": "ENST00000941491.1",
          "protein_id": "ENSP00000611550.1",
          "transcript_support_level": null,
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        },
        {
          "aa_ref": "T",
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          "protein_coding": true,
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          "consequences": [
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          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.909A>G",
          "hgvs_p": "p.Thr303Thr",
          "transcript": "ENST00000941492.1",
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000941492.1"
        },
        {
          "aa_ref": "T",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
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          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.909A>G",
          "hgvs_p": "p.Thr303Thr",
          "transcript": "ENST00000941494.1",
          "protein_id": "ENSP00000611553.1",
          "transcript_support_level": null,
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          "cdna_length": 2966,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000941494.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAF1",
          "gene_hgnc_id": 9829,
          "hgvs_c": "c.909A>G",
          "hgvs_p": "p.Thr303Thr",
          "transcript": "ENST00000941495.1",
          "protein_id": "ENSP00000611554.1",
          "transcript_support_level": null,
          "aa_start": 303,
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          "cdna_start": 1061,
          "cdna_end": null,
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      ],
      "gene_symbol": "RAF1",
      "gene_hgnc_id": 9829,
      "dbsnp": "rs5746219",
      "frequency_reference_population": 0.000004336777,
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      "gnomad_mito_homoplasmic": null,
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      "computational_score_selected": -0.8399999737739563,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.05000000074505806,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "alphamissense_score": null,
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      "bayesdelnoaf_score": -0.84,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.816,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.05,
      "spliceai_max_prediction": "Benign",
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      "apogee2_score": null,
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      "acmg_score": -11,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
      "acmg_by_gene": [
        {
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            "BP7",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "NM_001354689.3",
          "gene_symbol": "RAF1",
          "hgnc_id": 9829,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD",
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          "hgvs_p": "p.Thr323Thr"
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      ],
      "clinvar_disease": "RASopathy",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "RASopathy",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.