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GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 5-142011967-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=142011967&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 142011967,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_005471.5",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GNPDA1",
          "gene_hgnc_id": 4417,
          "hgvs_c": "c.69C>T",
          "hgvs_p": "p.Arg23Arg",
          "transcript": "NM_005471.5",
          "protein_id": "NP_005462.1",
          "transcript_support_level": null,
          "aa_start": 23,
          "aa_end": null,
          "aa_length": 289,
          "cds_start": 69,
          "cds_end": null,
          "cds_length": 870,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000311337.11",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_005471.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GNPDA1",
          "gene_hgnc_id": 4417,
          "hgvs_c": "c.69C>T",
          "hgvs_p": "p.Arg23Arg",
          "transcript": "ENST00000311337.11",
          "protein_id": "ENSP00000311876.6",
          "transcript_support_level": 1,
          "aa_start": 23,
          "aa_end": null,
          "aa_length": 289,
          "cds_start": 69,
          "cds_end": null,
          "cds_length": 870,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_005471.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000311337.11"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GNPDA1",
          "gene_hgnc_id": 4417,
          "hgvs_c": "c.69C>T",
          "hgvs_p": "p.Arg23Arg",
          "transcript": "ENST00000503794.5",
          "protein_id": "ENSP00000423485.1",
          "transcript_support_level": 1,
          "aa_start": 23,
          "aa_end": null,
          "aa_length": 289,
          "cds_start": 69,
          "cds_end": null,
          "cds_length": 870,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000503794.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GNPDA1",
          "gene_hgnc_id": 4417,
          "hgvs_c": "c.69C>T",
          "hgvs_p": "p.Arg23Arg",
          "transcript": "ENST00000508177.5",
          "protein_id": "ENSP00000423674.1",
          "transcript_support_level": 1,
          "aa_start": 23,
          "aa_end": null,
          "aa_length": 289,
          "cds_start": 69,
          "cds_end": null,
          "cds_length": 870,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000508177.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GNPDA1",
          "gene_hgnc_id": 4417,
          "hgvs_c": "c.69C>T",
          "hgvs_p": "p.Arg23Arg",
          "transcript": "ENST00000505689.5",
          "protein_id": "ENSP00000421524.1",
          "transcript_support_level": 5,
          "aa_start": 23,
          "aa_end": null,
          "aa_length": 289,
          "cds_start": 69,
          "cds_end": null,
          "cds_length": 872,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000505689.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GNPDA1",
          "gene_hgnc_id": 4417,
          "hgvs_c": "c.69C>T",
          "hgvs_p": "p.Arg23Arg",
          "transcript": "ENST00000500692.6",
          "protein_id": "ENSP00000424275.1",
          "transcript_support_level": 5,
          "aa_start": 23,
          "aa_end": null,
          "aa_length": 289,
          "cds_start": 69,
          "cds_end": null,
          "cds_length": 870,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000500692.6"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GNPDA1",
          "gene_hgnc_id": 4417,
          "hgvs_c": "c.69C>T",
          "hgvs_p": "p.Arg23Arg",
          "transcript": "ENST00000862717.1",
          "protein_id": "ENSP00000532776.1",
          "transcript_support_level": null,
          "aa_start": 23,
          "aa_end": null,
          "aa_length": 289,
          "cds_start": 69,
          "cds_end": null,
          "cds_length": 870,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000862717.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GNPDA1",
          "gene_hgnc_id": 4417,
          "hgvs_c": "c.69C>T",
          "hgvs_p": "p.Arg23Arg",
          "transcript": "ENST00000862721.1",
          "protein_id": "ENSP00000532780.1",
          "transcript_support_level": null,
          "aa_start": 23,
          "aa_end": null,
          "aa_length": 289,
          "cds_start": 69,
          "cds_end": null,
          "cds_length": 870,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000862721.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GNPDA1",
          "gene_hgnc_id": 4417,
          "hgvs_c": "c.69C>T",
          "hgvs_p": "p.Arg23Arg",
          "transcript": "ENST00000862723.1",
          "protein_id": "ENSP00000532782.1",
          "transcript_support_level": null,
          "aa_start": 23,
          "aa_end": null,
          "aa_length": 289,
          "cds_start": 69,
          "cds_end": null,
          "cds_length": 870,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000862723.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GNPDA1",
          "gene_hgnc_id": 4417,
          "hgvs_c": "c.69C>T",
          "hgvs_p": "p.Arg23Arg",
          "transcript": "ENST00000862724.1",
          "protein_id": "ENSP00000532783.1",
          "transcript_support_level": null,
          "aa_start": 23,
          "aa_end": null,
          "aa_length": 289,
          "cds_start": 69,
          "cds_end": null,
          "cds_length": 870,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000862724.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GNPDA1",
          "gene_hgnc_id": 4417,
          "hgvs_c": "c.69C>T",
          "hgvs_p": "p.Arg23Arg",
          "transcript": "ENST00000927689.1",
          "protein_id": "ENSP00000597748.1",
          "transcript_support_level": null,
          "aa_start": 23,
          "aa_end": null,
          "aa_length": 289,
          "cds_start": 69,
          "cds_end": null,
          "cds_length": 870,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000927689.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GNPDA1",
          "gene_hgnc_id": 4417,
          "hgvs_c": "c.69C>T",
          "hgvs_p": "p.Arg23Arg",
          "transcript": "ENST00000927691.1",
          "protein_id": "ENSP00000597750.1",
          "transcript_support_level": null,
          "aa_start": 23,
          "aa_end": null,
          "aa_length": 289,
          "cds_start": 69,
          "cds_end": null,
          "cds_length": 870,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000927691.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GNPDA1",
          "gene_hgnc_id": 4417,
          "hgvs_c": "c.69C>T",
          "hgvs_p": "p.Arg23Arg",
          "transcript": "ENST00000927692.1",
          "protein_id": "ENSP00000597751.1",
          "transcript_support_level": null,
          "aa_start": 23,
          "aa_end": null,
          "aa_length": 289,
          "cds_start": 69,
          "cds_end": null,
          "cds_length": 870,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000927692.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GNPDA1",
          "gene_hgnc_id": 4417,
          "hgvs_c": "c.69C>T",
          "hgvs_p": "p.Arg23Arg",
          "transcript": "ENST00000927694.1",
          "protein_id": "ENSP00000597753.1",
          "transcript_support_level": null,
          "aa_start": 23,
          "aa_end": null,
          "aa_length": 289,
          "cds_start": 69,
          "cds_end": null,
          "cds_length": 870,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000927694.1"
        },
        {
          "aa_ref": "R",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
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          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "GNPDA1",
          "gene_hgnc_id": 4417,
          "hgvs_c": "c.69C>T",
          "hgvs_p": "p.Arg23Arg",
          "transcript": "ENST00000862714.1",
          "protein_id": "ENSP00000532773.1",
          "transcript_support_level": null,
          "aa_start": 23,
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          "cds_start": 69,
          "cds_end": null,
          "cds_length": 846,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000862714.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GNPDA1",
          "gene_hgnc_id": 4417,
          "hgvs_c": "c.69C>T",
          "hgvs_p": "p.Arg23Arg",
          "transcript": "ENST00000862719.1",
          "protein_id": "ENSP00000532778.1",
          "transcript_support_level": null,
          "aa_start": 23,
          "aa_end": null,
          "aa_length": 281,
          "cds_start": 69,
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          "cdna_start": null,
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          "cdna_length": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000862719.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GNPDA1",
          "gene_hgnc_id": 4417,
          "hgvs_c": "c.69C>T",
          "hgvs_p": "p.Arg23Arg",
          "transcript": "ENST00000927693.1",
          "protein_id": "ENSP00000597752.1",
          "transcript_support_level": null,
          "aa_start": 23,
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          "cds_start": 69,
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          "biotype": "protein_coding",
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        {
          "aa_ref": "R",
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          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "GNPDA1",
          "gene_hgnc_id": 4417,
          "hgvs_c": "c.69C>T",
          "hgvs_p": "p.Arg23Arg",
          "transcript": "ENST00000513454.5",
          "protein_id": "ENSP00000423494.1",
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          "cds_start": 69,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          "strand": false,
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          ],
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          "intron_rank": null,
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          "gene_symbol": "GNPDA1",
          "gene_hgnc_id": 4417,
          "hgvs_c": "c.69C>T",
          "hgvs_p": "p.Arg23Arg",
          "transcript": "ENST00000862716.1",
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          "cds_start": 69,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000862716.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GNPDA1",
          "gene_hgnc_id": 4417,
          "hgvs_c": "c.69C>T",
          "hgvs_p": "p.Arg23Arg",
          "transcript": "ENST00000862725.1",
          "protein_id": "ENSP00000532784.1",
          "transcript_support_level": null,
          "aa_start": 23,
          "aa_end": null,
          "aa_length": 273,
          "cds_start": 69,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000862725.1"
        },
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          "hgvs_p": "p.Arg23Arg"
        },
        {
          "score": -10,
          "benign_score": 10,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000836955.1",
          "gene_symbol": "ENSG00000308869",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.115+878G>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
}
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