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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: 21-38299349-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=38299349&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "21",
      "pos": 38299349,
      "ref": "A",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "ENST00000398938.7",
      "consequences": [
        {
          "aa_ref": "M",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNJ15",
          "gene_hgnc_id": 6261,
          "hgvs_c": "c.88A>C",
          "hgvs_p": "p.Met30Leu",
          "transcript": "NM_170736.3",
          "protein_id": "NP_733932.1",
          "transcript_support_level": null,
          "aa_start": 30,
          "aa_end": null,
          "aa_length": 375,
          "cds_start": 88,
          "cds_end": null,
          "cds_length": 1128,
          "cdna_start": 399,
          "cdna_end": null,
          "cdna_length": 8407,
          "mane_select": "ENST00000398938.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNJ15",
          "gene_hgnc_id": 6261,
          "hgvs_c": "c.88A>C",
          "hgvs_p": "p.Met30Leu",
          "transcript": "ENST00000398938.7",
          "protein_id": "ENSP00000381911.2",
          "transcript_support_level": 1,
          "aa_start": 30,
          "aa_end": null,
          "aa_length": 375,
          "cds_start": 88,
          "cds_end": null,
          "cds_length": 1128,
          "cdna_start": 399,
          "cdna_end": null,
          "cdna_length": 8407,
          "mane_select": "NM_170736.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNJ15",
          "gene_hgnc_id": 6261,
          "hgvs_c": "c.88A>C",
          "hgvs_p": "p.Met30Leu",
          "transcript": "ENST00000328656.8",
          "protein_id": "ENSP00000331698.3",
          "transcript_support_level": 1,
          "aa_start": 30,
          "aa_end": null,
          "aa_length": 375,
          "cds_start": 88,
          "cds_end": null,
          "cds_length": 1128,
          "cdna_start": 391,
          "cdna_end": null,
          "cdna_length": 8399,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNJ15",
          "gene_hgnc_id": 6261,
          "hgvs_c": "c.88A>C",
          "hgvs_p": "p.Met30Leu",
          "transcript": "NM_001276435.2",
          "protein_id": "NP_001263364.1",
          "transcript_support_level": null,
          "aa_start": 30,
          "aa_end": null,
          "aa_length": 375,
          "cds_start": 88,
          "cds_end": null,
          "cds_length": 1128,
          "cdna_start": 530,
          "cdna_end": null,
          "cdna_length": 8538,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNJ15",
          "gene_hgnc_id": 6261,
          "hgvs_c": "c.88A>C",
          "hgvs_p": "p.Met30Leu",
          "transcript": "NM_001276436.2",
          "protein_id": "NP_001263365.1",
          "transcript_support_level": null,
          "aa_start": 30,
          "aa_end": null,
          "aa_length": 375,
          "cds_start": 88,
          "cds_end": null,
          "cds_length": 1128,
          "cdna_start": 533,
          "cdna_end": null,
          "cdna_length": 8541,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNJ15",
          "gene_hgnc_id": 6261,
          "hgvs_c": "c.88A>C",
          "hgvs_p": "p.Met30Leu",
          "transcript": "NM_001276437.2",
          "protein_id": "NP_001263366.1",
          "transcript_support_level": null,
          "aa_start": 30,
          "aa_end": null,
          "aa_length": 375,
          "cds_start": 88,
          "cds_end": null,
          "cds_length": 1128,
          "cdna_start": 384,
          "cdna_end": null,
          "cdna_length": 8392,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNJ15",
          "gene_hgnc_id": 6261,
          "hgvs_c": "c.88A>C",
          "hgvs_p": "p.Met30Leu",
          "transcript": "NM_001276438.2",
          "protein_id": "NP_001263367.1",
          "transcript_support_level": null,
          "aa_start": 30,
          "aa_end": null,
          "aa_length": 375,
          "cds_start": 88,
          "cds_end": null,
          "cds_length": 1128,
          "cdna_start": 302,
          "cdna_end": null,
          "cdna_length": 8310,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNJ15",
          "gene_hgnc_id": 6261,
          "hgvs_c": "c.88A>C",
          "hgvs_p": "p.Met30Leu",
          "transcript": "NM_001276439.2",
          "protein_id": "NP_001263368.1",
          "transcript_support_level": null,
          "aa_start": 30,
          "aa_end": null,
          "aa_length": 375,
          "cds_start": 88,
          "cds_end": null,
          "cds_length": 1128,
          "cdna_start": 442,
          "cdna_end": null,
          "cdna_length": 8450,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
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          "gene_symbol": "KCNJ15",
          "gene_hgnc_id": 6261,
          "hgvs_c": "c.88A>C",
          "hgvs_p": "p.Met30Leu",
          "transcript": "NM_002243.5",
          "protein_id": "NP_002234.2",
          "transcript_support_level": null,
          "aa_start": 30,
          "aa_end": null,
          "aa_length": 375,
          "cds_start": 88,
          "cds_end": null,
          "cds_length": 1128,
          "cdna_start": 391,
          "cdna_end": null,
          "cdna_length": 8399,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "M",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNJ15",
          "gene_hgnc_id": 6261,
          "hgvs_c": "c.88A>C",
          "hgvs_p": "p.Met30Leu",
          "transcript": "NM_170737.3",
          "protein_id": "NP_733933.1",
          "transcript_support_level": null,
          "aa_start": 30,
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          "aa_length": 375,
          "cds_start": 88,
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          "cds_length": 1128,
          "cdna_start": 254,
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          "cdna_length": 8262,
          "mane_select": null,
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        },
        {
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          "protein_coding": true,
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          "consequences": [
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          "exon_rank": 4,
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          "exon_count": 4,
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          "gene_symbol": "KCNJ15",
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          "hgvs_c": "c.88A>C",
          "hgvs_p": "p.Met30Leu",
          "transcript": "ENST00000398930.5",
          "protein_id": "ENSP00000381904.1",
          "transcript_support_level": 5,
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          "aa_length": 375,
          "cds_start": 88,
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          "cdna_start": 442,
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          "mane_select": null,
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        {
          "aa_ref": "M",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 4,
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          "gene_symbol": "KCNJ15",
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        {
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          ],
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          "hgvs_c": "c.88A>C",
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          "transcript": "ENST00000398934.5",
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        {
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          "gene_symbol": "KCNJ15",
          "gene_hgnc_id": 6261,
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          "hgvs_p": "p.Met30Leu",
          "transcript": "ENST00000612702.4",
          "protein_id": "ENSP00000484960.1",
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        {
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          "gene_symbol": "KCNJ15",
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          "hgvs_p": "p.Met30Leu",
          "transcript": "ENST00000438657.5",
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        {
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          "gene_symbol": "KCNJ15",
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          "transcript": "ENST00000398927.1",
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        {
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        {
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        {
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        },
        {
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          "protein_coding": true,
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          "gene_symbol": "KCNJ15",
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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
}