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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: 13-110045914-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=110045914&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "message": null,
  "variants": [
    {
      "acmg_by_gene": [
        {
          "benign_score": 12,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "gene_symbol": "LINC03082",
          "hgnc_id": 56676,
          "hgvs_c": "n.196C>A",
          "hgvs_p": null,
          "inheritance_mode": "",
          "pathogenic_score": 0,
          "score": -12,
          "transcript": "NR_187449.1",
          "verdict": "Benign"
        }
      ],
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_score": -12,
      "allele_count_reference_population": 40626,
      "alphamissense_prediction": null,
      "alphamissense_score": null,
      "alt": "T",
      "apogee2_prediction": null,
      "apogee2_score": null,
      "bayesdelnoaf_prediction": "Benign",
      "bayesdelnoaf_score": -0.92,
      "chr": "13",
      "clinvar_classification": "",
      "clinvar_disease": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "computational_prediction_selected": "Benign",
      "computational_score_selected": -0.9200000166893005,
      "computational_source_selected": "BayesDel_noAF",
      "consequences": [
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1616,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 3,
          "exon_rank": 1,
          "exon_rank_end": null,
          "feature": "ENST00000654209.2",
          "gene_hgnc_id": 56676,
          "gene_symbol": "LINC03082",
          "hgvs_c": "n.220C>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000654209.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2245,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 3,
          "exon_rank": 1,
          "exon_rank_end": null,
          "feature": "ENST00000657447.2",
          "gene_hgnc_id": 56676,
          "gene_symbol": "LINC03082",
          "hgvs_c": "n.196C>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000657447.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2264,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 3,
          "exon_rank": 1,
          "exon_rank_end": null,
          "feature": "ENST00000658519.2",
          "gene_hgnc_id": 56676,
          "gene_symbol": "LINC03082",
          "hgvs_c": "n.220C>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000658519.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1389,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 3,
          "exon_rank": 1,
          "exon_rank_end": null,
          "feature": "ENST00000659060.1",
          "gene_hgnc_id": 56676,
          "gene_symbol": "LINC03082",
          "hgvs_c": "n.134C>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000659060.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1452,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 2,
          "exon_rank": 1,
          "exon_rank_end": null,
          "feature": "ENST00000659867.2",
          "gene_hgnc_id": 56676,
          "gene_symbol": "LINC03082",
          "hgvs_c": "n.194C>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000659867.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2043,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 2,
          "exon_rank": 1,
          "exon_rank_end": null,
          "feature": "ENST00000662389.2",
          "gene_hgnc_id": 56676,
          "gene_symbol": "LINC03082",
          "hgvs_c": "n.196C>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000662389.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1731,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 2,
          "exon_rank": 1,
          "exon_rank_end": null,
          "feature": "ENST00000667832.2",
          "gene_hgnc_id": 56676,
          "gene_symbol": "LINC03082",
          "hgvs_c": "n.176C>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000667832.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1084,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 2,
          "exon_rank": 1,
          "exon_rank_end": null,
          "feature": "ENST00000810100.1",
          "gene_hgnc_id": 56676,
          "gene_symbol": "LINC03082",
          "hgvs_c": "n.169C>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000810100.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2240,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 3,
          "exon_rank": 1,
          "exon_rank_end": null,
          "feature": "NR_187449.1",
          "gene_hgnc_id": 56676,
          "gene_symbol": "LINC03082",
          "hgvs_c": "n.196C>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "NR_187449.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2476,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 3,
          "exon_rank": 1,
          "exon_rank_end": null,
          "feature": "NR_187450.1",
          "gene_hgnc_id": 56676,
          "gene_symbol": "LINC03082",
          "hgvs_c": "n.196C>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "NR_187450.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2395,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 2,
          "exon_rank": 1,
          "exon_rank_end": null,
          "feature": "NR_187451.1",
          "gene_hgnc_id": 56676,
          "gene_symbol": "LINC03082",
          "hgvs_c": "n.196C>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "NR_187451.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
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          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2043,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 2,
          "exon_rank": 1,
          "exon_rank_end": null,
          "feature": "NR_187452.1",
          "gene_hgnc_id": 56676,
          "gene_symbol": "LINC03082",
          "hgvs_c": "n.196C>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "NR_187452.1",
          "transcript_support_level": null
        },
        {
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          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2631,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 2,
          "exon_rank": 1,
          "exon_rank_end": null,
          "feature": "NR_187453.1",
          "gene_hgnc_id": 56676,
          "gene_symbol": "LINC03082",
          "hgvs_c": "n.196C>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "NR_187453.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
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          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2481,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
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          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 3,
          "exon_rank": 1,
          "exon_rank_end": null,
          "feature": "NR_187454.1",
          "gene_hgnc_id": 56676,
          "gene_symbol": "LINC03082",
          "hgvs_c": "n.196C>A",
          "hgvs_p": null,
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          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "NR_187454.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
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          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2048,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 2,
          "exon_rank": 1,
          "exon_rank_end": null,
          "feature": "NR_187455.1",
          "gene_hgnc_id": 56676,
          "gene_symbol": "LINC03082",
          "hgvs_c": "n.196C>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "NR_187455.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2245,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 3,
          "exon_rank": 1,
          "exon_rank_end": null,
          "feature": "NR_187456.1",
          "gene_hgnc_id": 56676,
          "gene_symbol": "LINC03082",
          "hgvs_c": "n.196C>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "NR_187456.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
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          "aa_length": null,
          "aa_ref": null,
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          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 556,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 3,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000614099.1",
          "gene_hgnc_id": 56676,
          "gene_symbol": "LINC03082",
          "hgvs_c": "n.206+11212C>A",
          "hgvs_p": null,
          "intron_rank": 1,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000614099.1",
          "transcript_support_level": 4
        },
        {
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          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 936,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 2,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000617298.1",
          "gene_hgnc_id": 56676,
          "gene_symbol": "LINC03082",
          "hgvs_c": "n.162-8943C>A",
          "hgvs_p": null,
          "intron_rank": 1,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000617298.1",
          "transcript_support_level": 3
        },
        {
          "aa_alt": null,
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          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1993,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 2,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000654849.1",
          "gene_hgnc_id": 56676,
          "gene_symbol": "LINC03082",
          "hgvs_c": "n.1217+7168C>A",
          "hgvs_p": null,
          "intron_rank": 1,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000654849.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 996,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 2,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000660081.2",
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For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.