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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: 4-539336-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=539336&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "4",
      "pos": 539336,
      "ref": "G",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_001127178.3",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGG",
          "gene_hgnc_id": 25985,
          "hgvs_c": "c.2919G>T",
          "hgvs_p": "p.Thr973Thr",
          "transcript": "NM_001127178.3",
          "protein_id": "NP_001120650.1",
          "transcript_support_level": null,
          "aa_start": 973,
          "aa_end": null,
          "aa_length": 983,
          "cds_start": 2919,
          "cds_end": null,
          "cds_length": 2952,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000453061.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001127178.3"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGG",
          "gene_hgnc_id": 25985,
          "hgvs_c": "c.2919G>T",
          "hgvs_p": "p.Thr973Thr",
          "transcript": "ENST00000453061.7",
          "protein_id": "ENSP00000415203.2",
          "transcript_support_level": 1,
          "aa_start": 973,
          "aa_end": null,
          "aa_length": 983,
          "cds_start": 2919,
          "cds_end": null,
          "cds_length": 2952,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001127178.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000453061.7"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGG",
          "gene_hgnc_id": 25985,
          "hgvs_c": "c.2520G>T",
          "hgvs_p": "p.Thr840Thr",
          "transcript": "ENST00000383028.8",
          "protein_id": "ENSP00000372494.4",
          "transcript_support_level": 1,
          "aa_start": 840,
          "aa_end": null,
          "aa_length": 850,
          "cds_start": 2520,
          "cds_end": null,
          "cds_length": 2553,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000383028.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGG",
          "gene_hgnc_id": 25985,
          "hgvs_c": "n.534G>T",
          "hgvs_p": null,
          "transcript": "ENST00000508144.1",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000508144.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGG",
          "gene_hgnc_id": 25985,
          "hgvs_c": "n.2052G>T",
          "hgvs_p": null,
          "transcript": "ENST00000513192.1",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000513192.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGG",
          "gene_hgnc_id": 25985,
          "hgvs_c": "n.3326G>T",
          "hgvs_p": null,
          "transcript": "ENST00000513239.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000513239.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGG",
          "gene_hgnc_id": 25985,
          "hgvs_c": "c.2895G>T",
          "hgvs_p": "p.Thr965Thr",
          "transcript": "NM_017733.5",
          "protein_id": "NP_060203.3",
          "transcript_support_level": null,
          "aa_start": 965,
          "aa_end": null,
          "aa_length": 975,
          "cds_start": 2895,
          "cds_end": null,
          "cds_length": 2928,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_017733.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGG",
          "gene_hgnc_id": 25985,
          "hgvs_c": "c.2895G>T",
          "hgvs_p": "p.Thr965Thr",
          "transcript": "ENST00000310340.9",
          "protein_id": "ENSP00000311750.5",
          "transcript_support_level": 2,
          "aa_start": 965,
          "aa_end": null,
          "aa_length": 975,
          "cds_start": 2895,
          "cds_end": null,
          "cds_length": 2928,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000310340.9"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGG",
          "gene_hgnc_id": 25985,
          "hgvs_c": "c.2709G>T",
          "hgvs_p": "p.Thr903Thr",
          "transcript": "ENST00000868086.1",
          "protein_id": "ENSP00000538145.1",
          "transcript_support_level": null,
          "aa_start": 903,
          "aa_end": null,
          "aa_length": 913,
          "cds_start": 2709,
          "cds_end": null,
          "cds_length": 2742,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868086.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGG",
          "gene_hgnc_id": 25985,
          "hgvs_c": "c.2706G>T",
          "hgvs_p": "p.Thr902Thr",
          "transcript": "ENST00000868087.1",
          "protein_id": "ENSP00000538146.1",
          "transcript_support_level": null,
          "aa_start": 902,
          "aa_end": null,
          "aa_length": 912,
          "cds_start": 2706,
          "cds_end": null,
          "cds_length": 2739,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868087.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGG",
          "gene_hgnc_id": 25985,
          "hgvs_c": "c.2652G>T",
          "hgvs_p": "p.Thr884Thr",
          "transcript": "NM_001289051.2",
          "protein_id": "NP_001275980.1",
          "transcript_support_level": null,
          "aa_start": 884,
          "aa_end": null,
          "aa_length": 894,
          "cds_start": 2652,
          "cds_end": null,
          "cds_length": 2685,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001289051.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGG",
          "gene_hgnc_id": 25985,
          "hgvs_c": "c.2652G>T",
          "hgvs_p": "p.Thr884Thr",
          "transcript": "NM_001345986.2",
          "protein_id": "NP_001332915.1",
          "transcript_support_level": null,
          "aa_start": 884,
          "aa_end": null,
          "aa_length": 894,
          "cds_start": 2652,
          "cds_end": null,
          "cds_length": 2685,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001345986.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGG",
          "gene_hgnc_id": 25985,
          "hgvs_c": "c.2652G>T",
          "hgvs_p": "p.Thr884Thr",
          "transcript": "ENST00000504346.5",
          "protein_id": "ENSP00000424800.1",
          "transcript_support_level": 2,
          "aa_start": 884,
          "aa_end": null,
          "aa_length": 894,
          "cds_start": 2652,
          "cds_end": null,
          "cds_length": 2685,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000504346.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGG",
          "gene_hgnc_id": 25985,
          "hgvs_c": "c.2628G>T",
          "hgvs_p": "p.Thr876Thr",
          "transcript": "NM_001345987.2",
          "protein_id": "NP_001332916.1",
          "transcript_support_level": null,
          "aa_start": 876,
          "aa_end": null,
          "aa_length": 886,
          "cds_start": 2628,
          "cds_end": null,
          "cds_length": 2661,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001345987.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGG",
          "gene_hgnc_id": 25985,
          "hgvs_c": "c.2520G>T",
          "hgvs_p": "p.Thr840Thr",
          "transcript": "NM_001289052.2",
          "protein_id": "NP_001275981.1",
          "transcript_support_level": null,
          "aa_start": 840,
          "aa_end": null,
          "aa_length": 850,
          "cds_start": 2520,
          "cds_end": null,
          "cds_length": 2553,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001289052.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "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": "PIGG",
          "gene_hgnc_id": 25985,
          "hgvs_c": "c.1962G>T",
          "hgvs_p": "p.Thr654Thr",
          "transcript": "ENST00000936869.1",
          "protein_id": "ENSP00000606928.1",
          "transcript_support_level": null,
          "aa_start": 654,
          "aa_end": null,
          "aa_length": 664,
          "cds_start": 1962,
          "cds_end": null,
          "cds_length": 1995,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000936869.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGG",
          "gene_hgnc_id": 25985,
          "hgvs_c": "c.1890G>T",
          "hgvs_p": "p.Thr630Thr",
          "transcript": "NM_001345988.2",
          "protein_id": "NP_001332917.1",
          "transcript_support_level": null,
          "aa_start": 630,
          "aa_end": null,
          "aa_length": 640,
          "cds_start": 1890,
          "cds_end": null,
          "cds_length": 1923,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001345988.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGG",
          "gene_hgnc_id": 25985,
          "hgvs_c": "c.1821G>T",
          "hgvs_p": "p.Thr607Thr",
          "transcript": "NM_001345994.2",
          "protein_id": "NP_001332923.1",
          "transcript_support_level": null,
          "aa_start": 607,
          "aa_end": null,
          "aa_length": 617,
          "cds_start": 1821,
          "cds_end": null,
          "cds_length": 1854,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001345994.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGG",
          "gene_hgnc_id": 25985,
          "hgvs_c": "c.1386G>T",
          "hgvs_p": "p.Thr462Thr",
          "transcript": "NM_001345990.2",
          "protein_id": "NP_001332919.1",
          "transcript_support_level": null,
          "aa_start": 462,
          "aa_end": null,
          "aa_length": 472,
          "cds_start": 1386,
          "cds_end": null,
          "cds_length": 1419,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001345990.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PIGG",
          "gene_hgnc_id": 25985,
          "hgvs_c": "c.1386G>T",
          "hgvs_p": "p.Thr462Thr",
          "transcript": "NM_001345991.2",
          "protein_id": "NP_001332920.1",
          "transcript_support_level": null,
          "aa_start": 462,
          "aa_end": null,
          "aa_length": 472,
          "cds_start": 1386,
          "cds_end": null,
          "cds_length": 1419,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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}