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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: 17-81510672-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81510672&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 81510672,
      "ref": "C",
      "alt": "T",
      "effect": "3_prime_UTR_variant",
      "transcript": "NM_001614.5",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACTG1",
          "gene_hgnc_id": 144,
          "hgvs_c": "n.1546G>A",
          "hgvs_p": null,
          "transcript": "ENST00000574671.6",
          "protein_id": null,
          "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": 2241,
          "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": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACTG1",
          "gene_hgnc_id": 144,
          "hgvs_c": "n.1031G>A",
          "hgvs_p": null,
          "transcript": "ENST00000576209.5",
          "protein_id": null,
          "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": 1698,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACTG1",
          "gene_hgnc_id": 144,
          "hgvs_c": "c.*18G>A",
          "hgvs_p": null,
          "transcript": "NM_001614.5",
          "protein_id": "NP_001605.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 375,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1128,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1919,
          "mane_select": "ENST00000573283.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACTG1",
          "gene_hgnc_id": 144,
          "hgvs_c": "c.*18G>A",
          "hgvs_p": null,
          "transcript": "ENST00000573283.7",
          "protein_id": "ENSP00000458435.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 375,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1128,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1919,
          "mane_select": "NM_001614.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACTG1",
          "gene_hgnc_id": 144,
          "hgvs_c": "c.*18G>A",
          "hgvs_p": null,
          "transcript": "ENST00000575842.5",
          "protein_id": "ENSP00000458162.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 375,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1128,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2256,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACTG1",
          "gene_hgnc_id": 144,
          "hgvs_c": "c.*18G>A",
          "hgvs_p": null,
          "transcript": "ENST00000615544.5",
          "protein_id": "ENSP00000477968.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 375,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1128,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1895,
          "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": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACTG1",
          "gene_hgnc_id": 144,
          "hgvs_c": "n.*590G>A",
          "hgvs_p": null,
          "transcript": "ENST00000572105.7",
          "protein_id": "ENSP00000462823.1",
          "transcript_support_level": 5,
          "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": 2005,
          "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": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACTG1",
          "gene_hgnc_id": 144,
          "hgvs_c": "n.1447G>A",
          "hgvs_p": null,
          "transcript": "ENST00000576214.3",
          "protein_id": null,
          "transcript_support_level": 5,
          "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": 1993,
          "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": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACTG1",
          "gene_hgnc_id": 144,
          "hgvs_c": "n.*18G>A",
          "hgvs_p": null,
          "transcript": "ENST00000576544.6",
          "protein_id": "ENSP00000461672.1",
          "transcript_support_level": 5,
          "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": 1880,
          "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": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACTG1",
          "gene_hgnc_id": 144,
          "hgvs_c": "n.1278G>A",
          "hgvs_p": null,
          "transcript": "ENST00000576917.5",
          "protein_id": null,
          "transcript_support_level": 5,
          "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": 1958,
          "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": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACTG1",
          "gene_hgnc_id": 144,
          "hgvs_c": "n.1349G>A",
          "hgvs_p": null,
          "transcript": "ENST00000679410.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1895,
          "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": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACTG1",
          "gene_hgnc_id": 144,
          "hgvs_c": "n.1447G>A",
          "hgvs_p": null,
          "transcript": "ENST00000679535.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACTG1",
          "gene_hgnc_id": 144,
          "hgvs_c": "n.*18G>A",
          "hgvs_p": null,
          "transcript": "ENST00000679778.1",
          "protein_id": "ENSP00000505235.1",
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "ACTG1",
          "gene_hgnc_id": 144,
          "hgvs_c": "n.*18G>A",
          "hgvs_p": null,
          "transcript": "ENST00000680227.1",
          "protein_id": "ENSP00000506253.1",
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          "cds_length": null,
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          "cdna_length": 1860,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "ACTG1",
          "gene_hgnc_id": 144,
          "hgvs_c": "n.*18G>A",
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          "transcript": "ENST00000680727.1",
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 6,
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          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "ACTG1",
          "gene_hgnc_id": 144,
          "hgvs_c": "n.*950G>A",
          "hgvs_p": null,
          "transcript": "ENST00000681092.1",
          "protein_id": "ENSP00000506720.1",
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          "cds_start": -4,
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          "cdna_length": 1749,
          "mane_select": null,
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        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACTG1",
          "gene_hgnc_id": 144,
          "hgvs_c": "n.*18G>A",
          "hgvs_p": null,
          "transcript": "ENST00000681842.1",
          "protein_id": "ENSP00000506126.1",
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          "mane_select": null,
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          "biotype": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACTG1",
          "gene_hgnc_id": 144,
          "hgvs_c": "n.1218G>A",
          "hgvs_p": null,
          "transcript": "NR_037688.3",
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        {
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          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "ACTG1",
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          "hgvs_c": "c.*18G>A",
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          "transcript": "NM_001199954.3",
          "protein_id": "NP_001186883.1",
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        {
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          "consequences": [
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          ],
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          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "ACTG1",
          "gene_hgnc_id": 144,
          "hgvs_c": "c.*18G>A",
          "hgvs_p": null,
          "transcript": "ENST00000570382.2",
          "protein_id": "ENSP00000466346.2",
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 2052,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ACTG1",
          "gene_hgnc_id": 144,
          "hgvs_c": "c.*18G>A",
          "hgvs_p": null,
          "transcript": "ENST00000575087.5",
          "protein_id": "ENSP00000459124.1",
          "transcript_support_level": 5,
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          "cdna_start": null,
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          "cdna_length": 2001,
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      "computational_source_selected": "BayesDel_noAF",
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      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
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      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6,BS2",
      "acmg_by_gene": [
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      "clinvar_disease": "not specified",
      "clinvar_classification": "Conflicting classifications of pathogenicity",
      "clinvar_review_status": "criteria provided, conflicting classifications",
      "clinvar_submissions_summary": "US:1 LB:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
      "custom_annotations": null
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  "message": null
}