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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: 7-151781414-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=151781414&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 151781414,
      "ref": "G",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "NM_016203.4",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.204C>G",
          "hgvs_p": "p.Gly68Gly",
          "transcript": "NM_016203.4",
          "protein_id": "NP_057287.2",
          "transcript_support_level": null,
          "aa_start": 68,
          "aa_end": null,
          "aa_length": 569,
          "cds_start": 204,
          "cds_end": null,
          "cds_length": 1710,
          "cdna_start": 699,
          "cdna_end": null,
          "cdna_length": 3279,
          "mane_select": "ENST00000287878.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.204C>G",
          "hgvs_p": "p.Gly68Gly",
          "transcript": "ENST00000287878.9",
          "protein_id": "ENSP00000287878.3",
          "transcript_support_level": 1,
          "aa_start": 68,
          "aa_end": null,
          "aa_length": 569,
          "cds_start": 204,
          "cds_end": null,
          "cds_length": 1710,
          "cdna_start": 699,
          "cdna_end": null,
          "cdna_length": 3279,
          "mane_select": "NM_016203.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.72C>G",
          "hgvs_p": "p.Gly24Gly",
          "transcript": "ENST00000392801.6",
          "protein_id": "ENSP00000376549.2",
          "transcript_support_level": 1,
          "aa_start": 24,
          "aa_end": null,
          "aa_length": 525,
          "cds_start": 72,
          "cds_end": null,
          "cds_length": 1578,
          "cdna_start": 515,
          "cdna_end": null,
          "cdna_length": 2281,
          "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": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "n.204C>G",
          "hgvs_p": null,
          "transcript": "ENST00000488258.5",
          "protein_id": "ENSP00000420783.1",
          "transcript_support_level": 1,
          "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": 1413,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.204C>G",
          "hgvs_p": "p.Gly68Gly",
          "transcript": "NM_001407021.1",
          "protein_id": "NP_001393950.1",
          "transcript_support_level": null,
          "aa_start": 68,
          "aa_end": null,
          "aa_length": 619,
          "cds_start": 204,
          "cds_end": null,
          "cds_length": 1860,
          "cdna_start": 699,
          "cdna_end": null,
          "cdna_length": 6570,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.204C>G",
          "hgvs_p": "p.Gly68Gly",
          "transcript": "NM_001407022.1",
          "protein_id": "NP_001393951.1",
          "transcript_support_level": null,
          "aa_start": 68,
          "aa_end": null,
          "aa_length": 618,
          "cds_start": 204,
          "cds_end": null,
          "cds_length": 1857,
          "cdna_start": 699,
          "cdna_end": null,
          "cdna_length": 6567,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.204C>G",
          "hgvs_p": "p.Gly68Gly",
          "transcript": "NM_001407023.1",
          "protein_id": "NP_001393952.1",
          "transcript_support_level": null,
          "aa_start": 68,
          "aa_end": null,
          "aa_length": 568,
          "cds_start": 204,
          "cds_end": null,
          "cds_length": 1707,
          "cdna_start": 699,
          "cdna_end": null,
          "cdna_length": 3276,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.204C>G",
          "hgvs_p": "p.Gly68Gly",
          "transcript": "ENST00000652321.2",
          "protein_id": "ENSP00000498886.2",
          "transcript_support_level": null,
          "aa_start": 68,
          "aa_end": null,
          "aa_length": 568,
          "cds_start": 204,
          "cds_end": null,
          "cds_length": 1707,
          "cdna_start": 798,
          "cdna_end": null,
          "cdna_length": 3326,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.72C>G",
          "hgvs_p": "p.Gly24Gly",
          "transcript": "NM_001040633.2",
          "protein_id": "NP_001035723.1",
          "transcript_support_level": null,
          "aa_start": 24,
          "aa_end": null,
          "aa_length": 525,
          "cds_start": 72,
          "cds_end": null,
          "cds_length": 1578,
          "cdna_start": 534,
          "cdna_end": null,
          "cdna_length": 3114,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.72C>G",
          "hgvs_p": "p.Gly24Gly",
          "transcript": "NM_001407024.1",
          "protein_id": "NP_001393953.1",
          "transcript_support_level": null,
          "aa_start": 24,
          "aa_end": null,
          "aa_length": 525,
          "cds_start": 72,
          "cds_end": null,
          "cds_length": 1578,
          "cdna_start": 654,
          "cdna_end": null,
          "cdna_length": 3234,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.72C>G",
          "hgvs_p": "p.Gly24Gly",
          "transcript": "ENST00000651764.1",
          "protein_id": "ENSP00000498796.1",
          "transcript_support_level": null,
          "aa_start": 24,
          "aa_end": null,
          "aa_length": 525,
          "cds_start": 72,
          "cds_end": null,
          "cds_length": 1578,
          "cdna_start": 519,
          "cdna_end": null,
          "cdna_length": 3011,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.72C>G",
          "hgvs_p": "p.Gly24Gly",
          "transcript": "ENST00000652159.1",
          "protein_id": "ENSP00000499025.1",
          "transcript_support_level": null,
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          "cds_start": 72,
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          "cdna_start": 303,
          "cdna_end": null,
          "cdna_length": 2809,
          "mane_select": null,
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          "biotype": null,
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        },
        {
          "aa_ref": "G",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
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          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.72C>G",
          "hgvs_p": "p.Gly24Gly",
          "transcript": "NM_001407026.1",
          "protein_id": "NP_001393955.1",
          "transcript_support_level": null,
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          "cds_start": 72,
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          "cds_length": 1575,
          "cdna_start": 534,
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          "mane_select": null,
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          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.72C>G",
          "hgvs_p": "p.Gly24Gly",
          "transcript": "NM_001407027.1",
          "protein_id": "NP_001393956.1",
          "transcript_support_level": null,
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          "aa_length": 524,
          "cds_start": 72,
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          "cdna_start": 654,
          "cdna_end": null,
          "cdna_length": 3231,
          "mane_select": null,
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          "biotype": null,
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        },
        {
          "aa_ref": "G",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
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          "gene_symbol": "PRKAG2",
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          "hgvs_p": "p.Gly24Gly",
          "transcript": "ENST00000652047.1",
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          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
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          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.204C>G",
          "hgvs_p": "p.Gly68Gly",
          "transcript": "NM_001407030.1",
          "protein_id": "NP_001393959.1",
          "transcript_support_level": null,
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          "cds_start": 204,
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          "cdna_start": 699,
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          "cdna_length": 2991,
          "mane_select": null,
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        },
        {
          "aa_ref": "G",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
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          "exon_count": 14,
          "intron_rank": null,
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          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.204C>G",
          "hgvs_p": "p.Gly68Gly",
          "transcript": "NM_001407031.1",
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          "cds_start": 204,
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          "cdna_start": 699,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
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          "intron_rank": null,
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          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.72C>G",
          "hgvs_p": "p.Gly24Gly",
          "transcript": "NM_001407033.1",
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        },
        {
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          "protein_coding": true,
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          "consequences": [
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          ],
          "exon_rank": 3,
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          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.72C>G",
          "hgvs_p": "p.Gly24Gly",
          "transcript": "ENST00000652707.1",
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          "mane_select": null,
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        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
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          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.192C>G",
          "hgvs_p": "p.Gly64Gly",
          "transcript": "XM_006716021.3",
          "protein_id": "XP_006716084.1",
          "transcript_support_level": null,
          "aa_start": 64,
          "aa_end": null,
          "aa_length": 615,
          "cds_start": 192,
          "cds_end": null,
          "cds_length": 1848,
          "cdna_start": 223,
          "cdna_end": null,
          "cdna_length": 6094,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.192C>G",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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  "message": null
}