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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: 15-89320933-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89320933&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 89320933,
      "ref": "A",
      "alt": "G",
      "effect": "synonymous_variant",
      "transcript": "NM_002693.3",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "c.2814T>C",
          "hgvs_p": "p.Thr938Thr",
          "transcript": "NM_002693.3",
          "protein_id": "NP_002684.1",
          "transcript_support_level": null,
          "aa_start": 938,
          "aa_end": null,
          "aa_length": 1239,
          "cds_start": 2814,
          "cds_end": null,
          "cds_length": 3720,
          "cdna_start": 3125,
          "cdna_end": null,
          "cdna_length": 4462,
          "mane_select": "ENST00000268124.11",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "c.2814T>C",
          "hgvs_p": "p.Thr938Thr",
          "transcript": "ENST00000268124.11",
          "protein_id": "ENSP00000268124.5",
          "transcript_support_level": 1,
          "aa_start": 938,
          "aa_end": null,
          "aa_length": 1239,
          "cds_start": 2814,
          "cds_end": null,
          "cds_length": 3720,
          "cdna_start": 3125,
          "cdna_end": null,
          "cdna_length": 4462,
          "mane_select": "NM_002693.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "c.2814T>C",
          "hgvs_p": "p.Thr938Thr",
          "transcript": "ENST00000442287.6",
          "protein_id": "ENSP00000399851.2",
          "transcript_support_level": 1,
          "aa_start": 938,
          "aa_end": null,
          "aa_length": 1239,
          "cds_start": 2814,
          "cds_end": null,
          "cds_length": 3720,
          "cdna_start": 3150,
          "cdna_end": null,
          "cdna_length": 4487,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "c.2814T>C",
          "hgvs_p": "p.Thr938Thr",
          "transcript": "NM_001126131.2",
          "protein_id": "NP_001119603.1",
          "transcript_support_level": null,
          "aa_start": 938,
          "aa_end": null,
          "aa_length": 1239,
          "cds_start": 2814,
          "cds_end": null,
          "cds_length": 3720,
          "cdna_start": 3113,
          "cdna_end": null,
          "cdna_length": 4450,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "c.2814T>C",
          "hgvs_p": "p.Thr938Thr",
          "transcript": "ENST00000636937.2",
          "protein_id": "ENSP00000516154.1",
          "transcript_support_level": 5,
          "aa_start": 938,
          "aa_end": null,
          "aa_length": 1239,
          "cds_start": 2814,
          "cds_end": null,
          "cds_length": 3720,
          "cdna_start": 3758,
          "cdna_end": null,
          "cdna_length": 5095,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "c.1884T>C",
          "hgvs_p": "p.Thr628Thr",
          "transcript": "ENST00000637264.1",
          "protein_id": "ENSP00000489844.1",
          "transcript_support_level": 5,
          "aa_start": 628,
          "aa_end": null,
          "aa_length": 909,
          "cds_start": 1884,
          "cds_end": null,
          "cds_length": 2730,
          "cdna_start": 1886,
          "cdna_end": null,
          "cdna_length": 3153,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "n.*203T>C",
          "hgvs_p": null,
          "transcript": "ENST00000528881.2",
          "protein_id": "ENSP00000433502.2",
          "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": 524,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "n.2415T>C",
          "hgvs_p": null,
          "transcript": "ENST00000530292.3",
          "protein_id": "ENSP00000432885.2",
          "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": 3843,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "n.*2238T>C",
          "hgvs_p": null,
          "transcript": "ENST00000631044.2",
          "protein_id": "ENSP00000486730.1",
          "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": 4668,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "n.2814T>C",
          "hgvs_p": null,
          "transcript": "ENST00000635986.2",
          "protein_id": "ENSP00000490653.2",
          "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,
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          "cdna_length": 4388,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "n.*1381T>C",
          "hgvs_p": null,
          "transcript": "ENST00000636774.1",
          "protein_id": "ENSP00000489799.1",
          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 4151,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
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          "hgvs_c": "n.*921T>C",
          "hgvs_p": null,
          "transcript": "ENST00000637238.1",
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          "cdna_length": 3022,
          "mane_select": null,
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "POLG",
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          "hgvs_c": "n.*1456T>C",
          "hgvs_p": null,
          "transcript": "ENST00000666746.1",
          "protein_id": "ENSP00000499495.1",
          "transcript_support_level": null,
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        {
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          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "n.3012T>C",
          "hgvs_p": null,
          "transcript": "ENST00000672071.1",
          "protein_id": null,
          "transcript_support_level": null,
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          "cdna_start": null,
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          "cdna_length": 5318,
          "mane_select": null,
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          "biotype": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
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          "gene_symbol": "POLG",
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          "transcript": "ENST00000672923.2",
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        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "n.*203T>C",
          "hgvs_p": null,
          "transcript": "ENST00000528881.2",
          "protein_id": "ENSP00000433502.2",
          "transcript_support_level": 5,
          "aa_start": null,
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          "cdna_start": null,
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          "cdna_length": 524,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "n.*2238T>C",
          "hgvs_p": null,
          "transcript": "ENST00000631044.2",
          "protein_id": "ENSP00000486730.1",
          "transcript_support_level": 5,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
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          "gene_symbol": "POLG",
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          "hgvs_c": "n.*1381T>C",
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          "transcript": "ENST00000636774.1",
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        {
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          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
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          "hgvs_c": "n.*921T>C",
          "hgvs_p": null,
          "transcript": "ENST00000637238.1",
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        },
        {
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          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "n.*1456T>C",
          "hgvs_p": null,
          "transcript": "ENST00000666746.1",
          "protein_id": "ENSP00000499495.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cdna_start": null,
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          "cdna_length": 3698,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "c.800+1029T>C",
          "hgvs_p": null,
          "transcript": "ENST00000670281.1",
          "protein_id": "ENSP00000499709.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 285,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 859,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 859,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "n.186-64T>C",
          "hgvs_p": null,
          "transcript": "ENST00000530715.5",
          "protein_id": "ENSP00000431395.1",
          "transcript_support_level": 3,
          "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": 372,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "c.-133T>C",
          "hgvs_p": null,
          "transcript": "ENST00000636812.1",
          "protein_id": "ENSP00000490403.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 32,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 99,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 100,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "POLG",
          "gene_hgnc_id": 9179,
          "hgvs_c": "n.-10T>C",
          "hgvs_p": null,
          "transcript": "ENST00000672695.1",
          "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": 1930,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "POLG",
      "gene_hgnc_id": 9179,
      "dbsnp": "rs771822843",
      "frequency_reference_population": 0.000029121822,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 47,
      "gnomad_exomes_af": 0.0000294181,
      "gnomad_genomes_af": 0.0000262771,
      "gnomad_exomes_ac": 43,
      "gnomad_genomes_ac": 4,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -1.059999942779541,
      "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": -1.06,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -10.569,
      "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": -13,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
      "acmg_by_gene": [
        {
          "score": -13,
          "benign_score": 13,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BP7"
          ],
          "verdict": "Benign",
          "transcript": "NM_002693.3",
          "gene_symbol": "POLG",
          "hgnc_id": 9179,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR,AD",
          "hgvs_c": "c.2814T>C",
          "hgvs_p": "p.Thr938Thr"
        }
      ],
      "clinvar_disease": "POLG-related disorder,Progressive sclerosing poliodystrophy,not specified",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "LB:3",
      "phenotype_combined": "not specified|Progressive sclerosing poliodystrophy|POLG-related disorder",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}