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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: 1-165654282-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=165654282&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 165654282,
      "ref": "A",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_004528.4",
      "consequences": [
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGST3",
          "gene_hgnc_id": 7064,
          "hgvs_c": "c.253A>G",
          "hgvs_p": "p.Ile85Val",
          "transcript": "NM_004528.4",
          "protein_id": "NP_004519.1",
          "transcript_support_level": null,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 152,
          "cds_start": 253,
          "cds_end": null,
          "cds_length": 459,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000367889.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_004528.4"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGST3",
          "gene_hgnc_id": 7064,
          "hgvs_c": "c.253A>G",
          "hgvs_p": "p.Ile85Val",
          "transcript": "ENST00000367889.8",
          "protein_id": "ENSP00000356864.3",
          "transcript_support_level": 1,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 152,
          "cds_start": 253,
          "cds_end": null,
          "cds_length": 459,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_004528.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000367889.8"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGST3",
          "gene_hgnc_id": 7064,
          "hgvs_c": "c.295A>G",
          "hgvs_p": "p.Ile99Val",
          "transcript": "ENST00000367883.3",
          "protein_id": "ENSP00000356858.1",
          "transcript_support_level": 3,
          "aa_start": 99,
          "aa_end": null,
          "aa_length": 166,
          "cds_start": 295,
          "cds_end": null,
          "cds_length": 501,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000367883.3"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGST3",
          "gene_hgnc_id": 7064,
          "hgvs_c": "c.295A>G",
          "hgvs_p": "p.Ile99Val",
          "transcript": "ENST00000367885.5",
          "protein_id": "ENSP00000356860.1",
          "transcript_support_level": 2,
          "aa_start": 99,
          "aa_end": null,
          "aa_length": 166,
          "cds_start": 295,
          "cds_end": null,
          "cds_length": 501,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000367885.5"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGST3",
          "gene_hgnc_id": 7064,
          "hgvs_c": "c.253A>G",
          "hgvs_p": "p.Ile85Val",
          "transcript": "ENST00000367884.6",
          "protein_id": "ENSP00000356859.1",
          "transcript_support_level": 3,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 152,
          "cds_start": 253,
          "cds_end": null,
          "cds_length": 459,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000367884.6"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGST3",
          "gene_hgnc_id": 7064,
          "hgvs_c": "c.295A>G",
          "hgvs_p": "p.Ile99Val",
          "transcript": "ENST00000627653.1",
          "protein_id": "ENSP00000487151.1",
          "transcript_support_level": 5,
          "aa_start": 99,
          "aa_end": null,
          "aa_length": 166,
          "cds_start": 295,
          "cds_end": null,
          "cds_length": 501,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000627653.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGST3",
          "gene_hgnc_id": 7064,
          "hgvs_c": "c.253A>G",
          "hgvs_p": "p.Ile85Val",
          "transcript": "ENST00000855187.1",
          "protein_id": "ENSP00000525246.1",
          "transcript_support_level": null,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 152,
          "cds_start": 253,
          "cds_end": null,
          "cds_length": 459,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000855187.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGST3",
          "gene_hgnc_id": 7064,
          "hgvs_c": "c.253A>G",
          "hgvs_p": "p.Ile85Val",
          "transcript": "ENST00000855188.1",
          "protein_id": "ENSP00000525247.1",
          "transcript_support_level": null,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 152,
          "cds_start": 253,
          "cds_end": null,
          "cds_length": 459,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000855188.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGST3",
          "gene_hgnc_id": 7064,
          "hgvs_c": "c.253A>G",
          "hgvs_p": "p.Ile85Val",
          "transcript": "ENST00000855189.1",
          "protein_id": "ENSP00000525248.1",
          "transcript_support_level": null,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 152,
          "cds_start": 253,
          "cds_end": null,
          "cds_length": 459,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000855189.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGST3",
          "gene_hgnc_id": 7064,
          "hgvs_c": "c.253A>G",
          "hgvs_p": "p.Ile85Val",
          "transcript": "ENST00000855190.1",
          "protein_id": "ENSP00000525249.1",
          "transcript_support_level": null,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 152,
          "cds_start": 253,
          "cds_end": null,
          "cds_length": 459,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000855190.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGST3",
          "gene_hgnc_id": 7064,
          "hgvs_c": "c.253A>G",
          "hgvs_p": "p.Ile85Val",
          "transcript": "ENST00000855192.1",
          "protein_id": "ENSP00000525251.1",
          "transcript_support_level": null,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 152,
          "cds_start": 253,
          "cds_end": null,
          "cds_length": 459,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000855192.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGST3",
          "gene_hgnc_id": 7064,
          "hgvs_c": "c.253A>G",
          "hgvs_p": "p.Ile85Val",
          "transcript": "ENST00000855193.1",
          "protein_id": "ENSP00000525252.1",
          "transcript_support_level": null,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 152,
          "cds_start": 253,
          "cds_end": null,
          "cds_length": 459,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000855193.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGST3",
          "gene_hgnc_id": 7064,
          "hgvs_c": "c.253A>G",
          "hgvs_p": "p.Ile85Val",
          "transcript": "ENST00000855194.1",
          "protein_id": "ENSP00000525253.1",
          "transcript_support_level": null,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 152,
          "cds_start": 253,
          "cds_end": null,
          "cds_length": 459,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000855194.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGST3",
          "gene_hgnc_id": 7064,
          "hgvs_c": "c.253A>G",
          "hgvs_p": "p.Ile85Val",
          "transcript": "ENST00000855195.1",
          "protein_id": "ENSP00000525254.1",
          "transcript_support_level": null,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 152,
          "cds_start": 253,
          "cds_end": null,
          "cds_length": 459,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000855195.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGST3",
          "gene_hgnc_id": 7064,
          "hgvs_c": "c.253A>G",
          "hgvs_p": "p.Ile85Val",
          "transcript": "ENST00000855196.1",
          "protein_id": "ENSP00000525255.1",
          "transcript_support_level": null,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 152,
          "cds_start": 253,
          "cds_end": null,
          "cds_length": 459,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000855196.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGST3",
          "gene_hgnc_id": 7064,
          "hgvs_c": "c.253A>G",
          "hgvs_p": "p.Ile85Val",
          "transcript": "ENST00000855197.1",
          "protein_id": "ENSP00000525256.1",
          "transcript_support_level": null,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 152,
          "cds_start": 253,
          "cds_end": null,
          "cds_length": 459,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000855197.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGST3",
          "gene_hgnc_id": 7064,
          "hgvs_c": "c.253A>G",
          "hgvs_p": "p.Ile85Val",
          "transcript": "ENST00000855198.1",
          "protein_id": "ENSP00000525257.1",
          "transcript_support_level": null,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 152,
          "cds_start": 253,
          "cds_end": null,
          "cds_length": 459,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000855198.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGST3",
          "gene_hgnc_id": 7064,
          "hgvs_c": "c.253A>G",
          "hgvs_p": "p.Ile85Val",
          "transcript": "ENST00000922014.1",
          "protein_id": "ENSP00000592073.1",
          "transcript_support_level": null,
          "aa_start": 85,
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          "aa_length": 152,
          "cds_start": 253,
          "cds_end": null,
          "cds_length": 459,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000922014.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGST3",
          "gene_hgnc_id": 7064,
          "hgvs_c": "c.253A>G",
          "hgvs_p": "p.Ile85Val",
          "transcript": "ENST00000922017.1",
          "protein_id": "ENSP00000592076.1",
          "transcript_support_level": null,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 152,
          "cds_start": 253,
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          "cds_length": 459,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000922017.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MGST3",
          "gene_hgnc_id": 7064,
          "hgvs_c": "c.253A>G",
          "hgvs_p": "p.Ile85Val",
          "transcript": "ENST00000922019.1",
          "protein_id": "ENSP00000592078.1",
          "transcript_support_level": null,
          "aa_start": 85,
          "aa_end": null,
          "aa_length": 152,
          "cds_start": 253,
          "cds_end": null,
          "cds_length": 459,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000922019.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
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      "clinvar_disease": "not specified",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}