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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: 7-151564107-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=151564107&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 151564107,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "ENST00000287878.9",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1555A>G",
          "hgvs_p": "p.Thr519Ala",
          "transcript": "NM_016203.4",
          "protein_id": "NP_057287.2",
          "transcript_support_level": null,
          "aa_start": 519,
          "aa_end": null,
          "aa_length": 569,
          "cds_start": 1555,
          "cds_end": null,
          "cds_length": 1710,
          "cdna_start": 2050,
          "cdna_end": null,
          "cdna_length": 3279,
          "mane_select": "ENST00000287878.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1555A>G",
          "hgvs_p": "p.Thr519Ala",
          "transcript": "ENST00000287878.9",
          "protein_id": "ENSP00000287878.3",
          "transcript_support_level": 1,
          "aa_start": 519,
          "aa_end": null,
          "aa_length": 569,
          "cds_start": 1555,
          "cds_end": null,
          "cds_length": 1710,
          "cdna_start": 2050,
          "cdna_end": null,
          "cdna_length": 3279,
          "mane_select": "NM_016203.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1423A>G",
          "hgvs_p": "p.Thr475Ala",
          "transcript": "ENST00000392801.6",
          "protein_id": "ENSP00000376549.2",
          "transcript_support_level": 1,
          "aa_start": 475,
          "aa_end": null,
          "aa_length": 525,
          "cds_start": 1423,
          "cds_end": null,
          "cds_length": 1578,
          "cdna_start": 1866,
          "cdna_end": null,
          "cdna_length": 2281,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.832A>G",
          "hgvs_p": "p.Thr278Ala",
          "transcript": "ENST00000418337.6",
          "protein_id": "ENSP00000387386.2",
          "transcript_support_level": 1,
          "aa_start": 278,
          "aa_end": null,
          "aa_length": 328,
          "cds_start": 832,
          "cds_end": null,
          "cds_length": 987,
          "cdna_start": 1086,
          "cdna_end": null,
          "cdna_length": 2318,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1555A>G",
          "hgvs_p": "p.Thr519Ala",
          "transcript": "NM_001407021.1",
          "protein_id": "NP_001393950.1",
          "transcript_support_level": null,
          "aa_start": 519,
          "aa_end": null,
          "aa_length": 619,
          "cds_start": 1555,
          "cds_end": null,
          "cds_length": 1860,
          "cdna_start": 2050,
          "cdna_end": null,
          "cdna_length": 6570,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1552A>G",
          "hgvs_p": "p.Thr518Ala",
          "transcript": "NM_001407022.1",
          "protein_id": "NP_001393951.1",
          "transcript_support_level": null,
          "aa_start": 518,
          "aa_end": null,
          "aa_length": 618,
          "cds_start": 1552,
          "cds_end": null,
          "cds_length": 1857,
          "cdna_start": 2047,
          "cdna_end": null,
          "cdna_length": 6567,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1552A>G",
          "hgvs_p": "p.Thr518Ala",
          "transcript": "NM_001407023.1",
          "protein_id": "NP_001393952.1",
          "transcript_support_level": null,
          "aa_start": 518,
          "aa_end": null,
          "aa_length": 568,
          "cds_start": 1552,
          "cds_end": null,
          "cds_length": 1707,
          "cdna_start": 2047,
          "cdna_end": null,
          "cdna_length": 3276,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1552A>G",
          "hgvs_p": "p.Thr518Ala",
          "transcript": "ENST00000652321.2",
          "protein_id": "ENSP00000498886.2",
          "transcript_support_level": null,
          "aa_start": 518,
          "aa_end": null,
          "aa_length": 568,
          "cds_start": 1552,
          "cds_end": null,
          "cds_length": 1707,
          "cdna_start": 2146,
          "cdna_end": null,
          "cdna_length": 3326,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1423A>G",
          "hgvs_p": "p.Thr475Ala",
          "transcript": "NM_001040633.2",
          "protein_id": "NP_001035723.1",
          "transcript_support_level": null,
          "aa_start": 475,
          "aa_end": null,
          "aa_length": 525,
          "cds_start": 1423,
          "cds_end": null,
          "cds_length": 1578,
          "cdna_start": 1885,
          "cdna_end": null,
          "cdna_length": 3114,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1423A>G",
          "hgvs_p": "p.Thr475Ala",
          "transcript": "NM_001407024.1",
          "protein_id": "NP_001393953.1",
          "transcript_support_level": null,
          "aa_start": 475,
          "aa_end": null,
          "aa_length": 525,
          "cds_start": 1423,
          "cds_end": null,
          "cds_length": 1578,
          "cdna_start": 2005,
          "cdna_end": null,
          "cdna_length": 3234,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1423A>G",
          "hgvs_p": "p.Thr475Ala",
          "transcript": "ENST00000651764.1",
          "protein_id": "ENSP00000498796.1",
          "transcript_support_level": null,
          "aa_start": 475,
          "aa_end": null,
          "aa_length": 525,
          "cds_start": 1423,
          "cds_end": null,
          "cds_length": 1578,
          "cdna_start": 1870,
          "cdna_end": null,
          "cdna_length": 3011,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1423A>G",
          "hgvs_p": "p.Thr475Ala",
          "transcript": "ENST00000652159.1",
          "protein_id": "ENSP00000499025.1",
          "transcript_support_level": null,
          "aa_start": 475,
          "aa_end": null,
          "aa_length": 525,
          "cds_start": 1423,
          "cds_end": null,
          "cds_length": 1578,
          "cdna_start": 1654,
          "cdna_end": null,
          "cdna_length": 2809,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1420A>G",
          "hgvs_p": "p.Thr474Ala",
          "transcript": "NM_001407026.1",
          "protein_id": "NP_001393955.1",
          "transcript_support_level": null,
          "aa_start": 474,
          "aa_end": null,
          "aa_length": 524,
          "cds_start": 1420,
          "cds_end": null,
          "cds_length": 1575,
          "cdna_start": 1882,
          "cdna_end": null,
          "cdna_length": 3111,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1420A>G",
          "hgvs_p": "p.Thr474Ala",
          "transcript": "NM_001407027.1",
          "protein_id": "NP_001393956.1",
          "transcript_support_level": null,
          "aa_start": 474,
          "aa_end": null,
          "aa_length": 524,
          "cds_start": 1420,
          "cds_end": null,
          "cds_length": 1575,
          "cdna_start": 2002,
          "cdna_end": null,
          "cdna_length": 3231,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1420A>G",
          "hgvs_p": "p.Thr474Ala",
          "transcript": "ENST00000652047.1",
          "protein_id": "ENSP00000499111.1",
          "transcript_support_level": null,
          "aa_start": 474,
          "aa_end": null,
          "aa_length": 524,
          "cds_start": 1420,
          "cds_end": null,
          "cds_length": 1575,
          "cdna_start": 1669,
          "cdna_end": null,
          "cdna_length": 1984,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1183A>G",
          "hgvs_p": "p.Thr395Ala",
          "transcript": "NM_001407028.1",
          "protein_id": "NP_001393957.1",
          "transcript_support_level": null,
          "aa_start": 395,
          "aa_end": null,
          "aa_length": 495,
          "cds_start": 1183,
          "cds_end": null,
          "cds_length": 1488,
          "cdna_start": 1453,
          "cdna_end": null,
          "cdna_length": 5973,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1180A>G",
          "hgvs_p": "p.Thr394Ala",
          "transcript": "NM_001407029.1",
          "protein_id": "NP_001393958.1",
          "transcript_support_level": null,
          "aa_start": 394,
          "aa_end": null,
          "aa_length": 494,
          "cds_start": 1180,
          "cds_end": null,
          "cds_length": 1485,
          "cdna_start": 1450,
          "cdna_end": null,
          "cdna_length": 5970,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1267A>G",
          "hgvs_p": "p.Thr423Ala",
          "transcript": "NM_001407030.1",
          "protein_id": "NP_001393959.1",
          "transcript_support_level": null,
          "aa_start": 423,
          "aa_end": null,
          "aa_length": 473,
          "cds_start": 1267,
          "cds_end": null,
          "cds_length": 1422,
          "cdna_start": 1762,
          "cdna_end": null,
          "cdna_length": 2991,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1264A>G",
          "hgvs_p": "p.Thr422Ala",
          "transcript": "NM_001407031.1",
          "protein_id": "NP_001393960.1",
          "transcript_support_level": null,
          "aa_start": 422,
          "aa_end": null,
          "aa_length": 472,
          "cds_start": 1264,
          "cds_end": null,
          "cds_length": 1419,
          "cdna_start": 1759,
          "cdna_end": null,
          "cdna_length": 2988,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1237A>G",
          "hgvs_p": "p.Thr413Ala",
          "transcript": "NM_001407032.1",
          "protein_id": "NP_001393961.1",
          "transcript_support_level": null,
          "aa_start": 413,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 1237,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": 1533,
          "cdna_end": null,
          "cdna_length": 2762,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
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      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "US:2",
      "phenotype_combined": "Lethal congenital glycogen storage disease of heart|Cardiomyopathy",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
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  "message": null
}