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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: 15-32168218-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=32168218&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 32168218,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "ENST00000306901.9",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHRNA7",
          "gene_hgnc_id": 1960,
          "hgvs_c": "c.1269C>T",
          "hgvs_p": "p.Gly423Gly",
          "transcript": "NM_000746.6",
          "protein_id": "NP_000737.1",
          "transcript_support_level": null,
          "aa_start": 423,
          "aa_end": null,
          "aa_length": 502,
          "cds_start": 1269,
          "cds_end": null,
          "cds_length": 1509,
          "cdna_start": 1349,
          "cdna_end": null,
          "cdna_length": 6149,
          "mane_select": "ENST00000306901.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHRNA7",
          "gene_hgnc_id": 1960,
          "hgvs_c": "c.1269C>T",
          "hgvs_p": "p.Gly423Gly",
          "transcript": "ENST00000306901.9",
          "protein_id": "ENSP00000303727.2",
          "transcript_support_level": 1,
          "aa_start": 423,
          "aa_end": null,
          "aa_length": 502,
          "cds_start": 1269,
          "cds_end": null,
          "cds_length": 1509,
          "cdna_start": 1349,
          "cdna_end": null,
          "cdna_length": 6149,
          "mane_select": "NM_000746.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHRNA7",
          "gene_hgnc_id": 1960,
          "hgvs_c": "c.1356C>T",
          "hgvs_p": "p.Gly452Gly",
          "transcript": "NM_001190455.3",
          "protein_id": "NP_001177384.1",
          "transcript_support_level": null,
          "aa_start": 452,
          "aa_end": null,
          "aa_length": 531,
          "cds_start": 1356,
          "cds_end": null,
          "cds_length": 1596,
          "cdna_start": 1436,
          "cdna_end": null,
          "cdna_length": 6236,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHRNA7",
          "gene_hgnc_id": 1960,
          "hgvs_c": "c.1356C>T",
          "hgvs_p": "p.Gly452Gly",
          "transcript": "ENST00000454250.7",
          "protein_id": "ENSP00000407546.3",
          "transcript_support_level": 2,
          "aa_start": 452,
          "aa_end": null,
          "aa_length": 531,
          "cds_start": 1356,
          "cds_end": null,
          "cds_length": 1596,
          "cdna_start": 1463,
          "cdna_end": null,
          "cdna_length": 2093,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHRNA7",
          "gene_hgnc_id": 1960,
          "hgvs_c": "c.1356C>T",
          "hgvs_p": "p.Gly452Gly",
          "transcript": "ENST00000675428.1",
          "protein_id": "ENSP00000502560.1",
          "transcript_support_level": null,
          "aa_start": 452,
          "aa_end": null,
          "aa_length": 531,
          "cds_start": 1356,
          "cds_end": null,
          "cds_length": 1596,
          "cdna_start": 1463,
          "cdna_end": null,
          "cdna_length": 2093,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHRNA7",
          "gene_hgnc_id": 1960,
          "hgvs_c": "c.1083C>T",
          "hgvs_p": "p.Gly361Gly",
          "transcript": "ENST00000636603.1",
          "protein_id": "ENSP00000490513.1",
          "transcript_support_level": 5,
          "aa_start": 361,
          "aa_end": null,
          "aa_length": 440,
          "cds_start": 1083,
          "cds_end": null,
          "cds_length": 1323,
          "cdna_start": 1350,
          "cdna_end": null,
          "cdna_length": 2012,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHRNA7",
          "gene_hgnc_id": 1960,
          "hgvs_c": "c.1083C>T",
          "hgvs_p": "p.Gly361Gly",
          "transcript": "ENST00000637033.1",
          "protein_id": "ENSP00000490227.1",
          "transcript_support_level": 5,
          "aa_start": 361,
          "aa_end": null,
          "aa_length": 440,
          "cds_start": 1083,
          "cds_end": null,
          "cds_length": 1323,
          "cdna_start": 1255,
          "cdna_end": null,
          "cdna_length": 3204,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHRNA7",
          "gene_hgnc_id": 1960,
          "hgvs_c": "c.1032C>T",
          "hgvs_p": "p.Gly344Gly",
          "transcript": "ENST00000637183.1",
          "protein_id": "ENSP00000490365.1",
          "transcript_support_level": 5,
          "aa_start": 344,
          "aa_end": null,
          "aa_length": 423,
          "cds_start": 1032,
          "cds_end": null,
          "cds_length": 1272,
          "cdna_start": 1213,
          "cdna_end": null,
          "cdna_length": 2912,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHRNA7",
          "gene_hgnc_id": 1960,
          "hgvs_c": "c.1221C>T",
          "hgvs_p": "p.Gly407Gly",
          "transcript": "XM_011521176.4",
          "protein_id": "XP_011519478.2",
          "transcript_support_level": null,
          "aa_start": 407,
          "aa_end": null,
          "aa_length": 486,
          "cds_start": 1221,
          "cds_end": null,
          "cds_length": 1461,
          "cdna_start": 1698,
          "cdna_end": null,
          "cdna_length": 6498,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHRNA7",
          "gene_hgnc_id": 1960,
          "hgvs_c": "c.1086C>T",
          "hgvs_p": "p.Gly362Gly",
          "transcript": "XM_047432126.1",
          "protein_id": "XP_047288082.1",
          "transcript_support_level": null,
          "aa_start": 362,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 1086,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 1201,
          "cdna_end": null,
          "cdna_length": 6001,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHRNA7",
          "gene_hgnc_id": 1960,
          "hgvs_c": "c.1083C>T",
          "hgvs_p": "p.Gly361Gly",
          "transcript": "XM_047432127.1",
          "protein_id": "XP_047288083.1",
          "transcript_support_level": null,
          "aa_start": 361,
          "aa_end": null,
          "aa_length": 440,
          "cds_start": 1083,
          "cds_end": null,
          "cds_length": 1323,
          "cdna_start": 1198,
          "cdna_end": null,
          "cdna_length": 5998,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHRNA7",
          "gene_hgnc_id": 1960,
          "hgvs_c": "c.966C>T",
          "hgvs_p": "p.Gly322Gly",
          "transcript": "XM_011521177.3",
          "protein_id": "XP_011519479.1",
          "transcript_support_level": null,
          "aa_start": 322,
          "aa_end": null,
          "aa_length": 401,
          "cds_start": 966,
          "cds_end": null,
          "cds_length": 1206,
          "cdna_start": 1323,
          "cdna_end": null,
          "cdna_length": 6123,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHRNA7",
          "gene_hgnc_id": 1960,
          "hgvs_c": "n.*770C>T",
          "hgvs_p": null,
          "transcript": "ENST00000437966.3",
          "protein_id": "ENSP00000399087.3",
          "transcript_support_level": 2,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 1788,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHRNA7",
          "gene_hgnc_id": 1960,
          "hgvs_c": "n.964C>T",
          "hgvs_p": null,
          "transcript": "ENST00000636245.1",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1794,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHRNA7",
          "gene_hgnc_id": 1960,
          "hgvs_c": "n.*401C>T",
          "hgvs_p": null,
          "transcript": "ENST00000636271.1",
          "protein_id": "ENSP00000490346.1",
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          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 1974,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHRNA7",
          "gene_hgnc_id": 1960,
          "hgvs_c": "n.1639C>T",
          "hgvs_p": null,
          "transcript": "ENST00000636292.1",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4843,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHRNA7",
          "gene_hgnc_id": 1960,
          "hgvs_c": "n.1409C>T",
          "hgvs_p": null,
          "transcript": "ENST00000637189.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 6181,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHRNA7",
          "gene_hgnc_id": 1960,
          "hgvs_c": "n.*967C>T",
          "hgvs_p": null,
          "transcript": "ENST00000637350.1",
          "protein_id": "ENSP00000489911.1",
          "transcript_support_level": 5,
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          "cdna_length": 2241,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHRNA7",
          "gene_hgnc_id": 1960,
          "hgvs_c": "n.*913C>T",
          "hgvs_p": null,
          "transcript": "ENST00000637519.1",
          "protein_id": "ENSP00000490924.1",
          "transcript_support_level": 5,
          "aa_start": null,
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          "cdna_start": null,
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          "cdna_length": 2084,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHRNA7",
          "gene_hgnc_id": 1960,
          "hgvs_c": "n.1191C>T",
          "hgvs_p": null,
          "transcript": "NR_046324.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3156,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CHRNA7",
          "gene_hgnc_id": 1960,
          "hgvs_c": "c.*16C>T",
          "hgvs_p": null,
          "transcript": "ENST00000635884.1",
          "protein_id": "ENSP00000489834.1",
          "transcript_support_level": 5,
          "aa_start": null,
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      "splice_score_selected": 0.009999999776482582,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.8,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -1.188,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.01,
      "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": "Likely_benign",
      "acmg_criteria": "BP4_Strong,BP7",
      "acmg_by_gene": [
        {
          "score": -5,
          "benign_score": 5,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000306901.9",
          "gene_symbol": "CHRNA7",
          "hgnc_id": 1960,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "Unknown,AD",
          "hgvs_c": "c.1269C>T",
          "hgvs_p": "p.Gly423Gly"
        },
        {
          "score": -4,
          "benign_score": 4,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000780853.1",
          "gene_symbol": "ENSG00000301688",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.624-2972G>A",
          "hgvs_p": null
        },
        {
          "score": -4,
          "benign_score": 4,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "XR_007064559.1",
          "gene_symbol": "LOC102724078",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.915-1358G>A",
          "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
}