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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: 12-48768955-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=48768955&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 48768955,
      "ref": "C",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_015270.5",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADCY6",
          "gene_hgnc_id": 237,
          "hgvs_c": "c.3363G>T",
          "hgvs_p": "p.Gly1121Gly",
          "transcript": "NM_015270.5",
          "protein_id": "NP_056085.1",
          "transcript_support_level": null,
          "aa_start": 1121,
          "aa_end": null,
          "aa_length": 1168,
          "cds_start": 3363,
          "cds_end": null,
          "cds_length": 3507,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000357869.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_015270.5"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADCY6",
          "gene_hgnc_id": 237,
          "hgvs_c": "c.3363G>T",
          "hgvs_p": "p.Gly1121Gly",
          "transcript": "ENST00000357869.8",
          "protein_id": "ENSP00000350536.4",
          "transcript_support_level": 2,
          "aa_start": 1121,
          "aa_end": null,
          "aa_length": 1168,
          "cds_start": 3363,
          "cds_end": null,
          "cds_length": 3507,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_015270.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000357869.8"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADCY6",
          "gene_hgnc_id": 237,
          "hgvs_c": "c.3363G>T",
          "hgvs_p": "p.Gly1121Gly",
          "transcript": "ENST00000307885.4",
          "protein_id": "ENSP00000311405.4",
          "transcript_support_level": 1,
          "aa_start": 1121,
          "aa_end": null,
          "aa_length": 1168,
          "cds_start": 3363,
          "cds_end": null,
          "cds_length": 3507,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000307885.4"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADCY6",
          "gene_hgnc_id": 237,
          "hgvs_c": "c.3444G>T",
          "hgvs_p": "p.Gly1148Gly",
          "transcript": "ENST00000960700.1",
          "protein_id": "ENSP00000630759.1",
          "transcript_support_level": null,
          "aa_start": 1148,
          "aa_end": null,
          "aa_length": 1195,
          "cds_start": 3444,
          "cds_end": null,
          "cds_length": 3588,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960700.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADCY6",
          "gene_hgnc_id": 237,
          "hgvs_c": "c.3363G>T",
          "hgvs_p": "p.Gly1121Gly",
          "transcript": "NM_001390831.2",
          "protein_id": "NP_001377760.1",
          "transcript_support_level": null,
          "aa_start": 1121,
          "aa_end": null,
          "aa_length": 1168,
          "cds_start": 3363,
          "cds_end": null,
          "cds_length": 3507,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001390831.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADCY6",
          "gene_hgnc_id": 237,
          "hgvs_c": "c.3363G>T",
          "hgvs_p": "p.Gly1121Gly",
          "transcript": "NM_001412819.1",
          "protein_id": "NP_001399748.1",
          "transcript_support_level": null,
          "aa_start": 1121,
          "aa_end": null,
          "aa_length": 1168,
          "cds_start": 3363,
          "cds_end": null,
          "cds_length": 3507,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001412819.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADCY6",
          "gene_hgnc_id": 237,
          "hgvs_c": "c.3363G>T",
          "hgvs_p": "p.Gly1121Gly",
          "transcript": "NM_001412820.1",
          "protein_id": "NP_001399749.1",
          "transcript_support_level": null,
          "aa_start": 1121,
          "aa_end": null,
          "aa_length": 1168,
          "cds_start": 3363,
          "cds_end": null,
          "cds_length": 3507,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001412820.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADCY6",
          "gene_hgnc_id": 237,
          "hgvs_c": "c.3363G>T",
          "hgvs_p": "p.Gly1121Gly",
          "transcript": "NM_001412821.1",
          "protein_id": "NP_001399750.1",
          "transcript_support_level": null,
          "aa_start": 1121,
          "aa_end": null,
          "aa_length": 1168,
          "cds_start": 3363,
          "cds_end": null,
          "cds_length": 3507,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001412821.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADCY6",
          "gene_hgnc_id": 237,
          "hgvs_c": "c.3363G>T",
          "hgvs_p": "p.Gly1121Gly",
          "transcript": "NM_001412822.1",
          "protein_id": "NP_001399751.1",
          "transcript_support_level": null,
          "aa_start": 1121,
          "aa_end": null,
          "aa_length": 1168,
          "cds_start": 3363,
          "cds_end": null,
          "cds_length": 3507,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001412822.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADCY6",
          "gene_hgnc_id": 237,
          "hgvs_c": "c.3363G>T",
          "hgvs_p": "p.Gly1121Gly",
          "transcript": "ENST00000873895.1",
          "protein_id": "ENSP00000543954.1",
          "transcript_support_level": null,
          "aa_start": 1121,
          "aa_end": null,
          "aa_length": 1168,
          "cds_start": 3363,
          "cds_end": null,
          "cds_length": 3507,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000873895.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADCY6",
          "gene_hgnc_id": 237,
          "hgvs_c": "c.3363G>T",
          "hgvs_p": "p.Gly1121Gly",
          "transcript": "ENST00000911287.1",
          "protein_id": "ENSP00000581346.1",
          "transcript_support_level": null,
          "aa_start": 1121,
          "aa_end": null,
          "aa_length": 1168,
          "cds_start": 3363,
          "cds_end": null,
          "cds_length": 3507,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000911287.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADCY6",
          "gene_hgnc_id": 237,
          "hgvs_c": "c.3363G>T",
          "hgvs_p": "p.Gly1121Gly",
          "transcript": "ENST00000960699.1",
          "protein_id": "ENSP00000630758.1",
          "transcript_support_level": null,
          "aa_start": 1121,
          "aa_end": null,
          "aa_length": 1168,
          "cds_start": 3363,
          "cds_end": null,
          "cds_length": 3507,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960699.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADCY6",
          "gene_hgnc_id": 237,
          "hgvs_c": "c.3363G>T",
          "hgvs_p": "p.Gly1121Gly",
          "transcript": "ENST00000960708.1",
          "protein_id": "ENSP00000630767.1",
          "transcript_support_level": null,
          "aa_start": 1121,
          "aa_end": null,
          "aa_length": 1168,
          "cds_start": 3363,
          "cds_end": null,
          "cds_length": 3507,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960708.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADCY6",
          "gene_hgnc_id": 237,
          "hgvs_c": "c.3363G>T",
          "hgvs_p": "p.Gly1121Gly",
          "transcript": "ENST00000960709.1",
          "protein_id": "ENSP00000630768.1",
          "transcript_support_level": null,
          "aa_start": 1121,
          "aa_end": null,
          "aa_length": 1168,
          "cds_start": 3363,
          "cds_end": null,
          "cds_length": 3507,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960709.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADCY6",
          "gene_hgnc_id": 237,
          "hgvs_c": "c.3351G>T",
          "hgvs_p": "p.Gly1117Gly",
          "transcript": "ENST00000960707.1",
          "protein_id": "ENSP00000630766.1",
          "transcript_support_level": null,
          "aa_start": 1117,
          "aa_end": null,
          "aa_length": 1164,
          "cds_start": 3351,
          "cds_end": null,
          "cds_length": 3495,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960707.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADCY6",
          "gene_hgnc_id": 237,
          "hgvs_c": "c.3309G>T",
          "hgvs_p": "p.Gly1103Gly",
          "transcript": "ENST00000960703.1",
          "protein_id": "ENSP00000630762.1",
          "transcript_support_level": null,
          "aa_start": 1103,
          "aa_end": null,
          "aa_length": 1150,
          "cds_start": 3309,
          "cds_end": null,
          "cds_length": 3453,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960703.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADCY6",
          "gene_hgnc_id": 237,
          "hgvs_c": "c.3288G>T",
          "hgvs_p": "p.Gly1096Gly",
          "transcript": "ENST00000960698.1",
          "protein_id": "ENSP00000630757.1",
          "transcript_support_level": null,
          "aa_start": 1096,
          "aa_end": null,
          "aa_length": 1143,
          "cds_start": 3288,
          "cds_end": null,
          "cds_length": 3432,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960698.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADCY6",
          "gene_hgnc_id": 237,
          "hgvs_c": "c.3285G>T",
          "hgvs_p": "p.Gly1095Gly",
          "transcript": "ENST00000960706.1",
          "protein_id": "ENSP00000630765.1",
          "transcript_support_level": null,
          "aa_start": 1095,
          "aa_end": null,
          "aa_length": 1142,
          "cds_start": 3285,
          "cds_end": null,
          "cds_length": 3429,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960706.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADCY6",
          "gene_hgnc_id": 237,
          "hgvs_c": "c.3246G>T",
          "hgvs_p": "p.Gly1082Gly",
          "transcript": "ENST00000960704.1",
          "protein_id": "ENSP00000630763.1",
          "transcript_support_level": null,
          "aa_start": 1082,
          "aa_end": null,
          "aa_length": 1129,
          "cds_start": 3246,
          "cds_end": null,
          "cds_length": 3390,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960704.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADCY6",
          "gene_hgnc_id": 237,
          "hgvs_c": "c.3204G>T",
          "hgvs_p": "p.Gly1068Gly",
          "transcript": "NM_001390830.1",
          "protein_id": "NP_001377759.1",
          "transcript_support_level": null,
          "aa_start": 1068,
          "aa_end": null,
          "aa_length": 1115,
          "cds_start": 3204,
          "cds_end": null,
          "cds_length": 3348,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
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            "BP4_Moderate"
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          "verdict": "Uncertain_significance",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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  "message": null
}