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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: 8-122952156-GCC-TCT (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=122952156&ref=GCC&alt=TCT&genome=hg38&allGenes=true"

API Response

json
{
  "message": null,
  "variants": [
    {
      "acmg_by_gene": [
        {
          "benign_score": 0,
          "criteria": [],
          "effects": [
            "missense_variant"
          ],
          "gene_symbol": "ZHX2",
          "hgnc_id": 18513,
          "hgvs_c": "c.646_648delGCCinsTCT",
          "hgvs_p": "p.Ala216Ser",
          "inheritance_mode": "",
          "pathogenic_score": 0,
          "score": 0,
          "transcript": "NM_014943.5",
          "verdict": "Uncertain_significance"
        }
      ],
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "",
      "acmg_score": 0,
      "allele_count_reference_population": 0,
      "alphamissense_prediction": null,
      "alphamissense_score": null,
      "alt": "TCT",
      "apogee2_prediction": null,
      "apogee2_score": null,
      "bayesdelnoaf_prediction": null,
      "bayesdelnoaf_score": null,
      "chr": "8",
      "clinvar_classification": "",
      "clinvar_disease": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "computational_prediction_selected": null,
      "computational_score_selected": null,
      "computational_source_selected": null,
      "consequences": [
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 837,
          "aa_ref": "A",
          "aa_start": 216,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4361,
          "cdna_start": 1220,
          "cds_end": null,
          "cds_length": 2514,
          "cds_start": 646,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 4,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_014943.5",
          "gene_hgnc_id": 18513,
          "gene_symbol": "ZHX2",
          "hgvs_c": "c.646_648delGCCinsTCT",
          "hgvs_p": "p.Ala216Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "ENST00000314393.6",
          "protein_coding": true,
          "protein_id": "NP_055758.1",
          "strand": true,
          "transcript": "NM_014943.5",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 837,
          "aa_ref": "A",
          "aa_start": 216,
          "biotype": "protein_coding",
          "canonical": true,
          "cdna_end": null,
          "cdna_length": 4361,
          "cdna_start": 1220,
          "cds_end": null,
          "cds_length": 2514,
          "cds_start": 646,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 4,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000314393.6",
          "gene_hgnc_id": 18513,
          "gene_symbol": "ZHX2",
          "hgvs_c": "c.646_648delGCCinsTCT",
          "hgvs_p": "p.Ala216Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "NM_014943.5",
          "protein_coding": true,
          "protein_id": "ENSP00000314709.4",
          "strand": true,
          "transcript": "ENST00000314393.6",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 837,
          "aa_ref": "A",
          "aa_start": 216,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4516,
          "cdna_start": 1375,
          "cds_end": null,
          "cds_length": 2514,
          "cds_start": 646,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 5,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001362797.2",
          "gene_hgnc_id": 18513,
          "gene_symbol": "ZHX2",
          "hgvs_c": "c.646_648delGCCinsTCT",
          "hgvs_p": "p.Ala216Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001349726.1",
          "strand": true,
          "transcript": "NM_001362797.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 837,
          "aa_ref": "A",
          "aa_start": 216,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4499,
          "cdna_start": 1358,
          "cds_end": null,
          "cds_length": 2514,
          "cds_start": 646,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 5,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001412796.1",
          "gene_hgnc_id": 18513,
          "gene_symbol": "ZHX2",
          "hgvs_c": "c.646_648delGCCinsTCT",
          "hgvs_p": "p.Ala216Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001399725.1",
          "strand": true,
          "transcript": "NM_001412796.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 837,
          "aa_ref": "A",
          "aa_start": 216,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4568,
          "cdna_start": 1427,
          "cds_end": null,
          "cds_length": 2514,
          "cds_start": 646,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 6,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001412797.1",
          "gene_hgnc_id": 18513,
          "gene_symbol": "ZHX2",
          "hgvs_c": "c.646_648delGCCinsTCT",
          "hgvs_p": "p.Ala216Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001399726.1",
          "strand": true,
          "transcript": "NM_001412797.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 837,
          "aa_ref": "A",
          "aa_start": 216,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4601,
          "cdna_start": 1220,
          "cds_end": null,
          "cds_length": 2514,
          "cds_start": 646,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 3,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001412798.1",
          "gene_hgnc_id": 18513,
          "gene_symbol": "ZHX2",
          "hgvs_c": "c.646_648delGCCinsTCT",
          "hgvs_p": "p.Ala216Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001399727.1",
          "strand": true,
          "transcript": "NM_001412798.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 837,
          "aa_ref": "A",
          "aa_start": 216,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4645,
          "cdna_start": 1504,
          "cds_end": null,
          "cds_length": 2514,
          "cds_start": 646,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 5,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001412799.1",
          "gene_hgnc_id": 18513,
          "gene_symbol": "ZHX2",
          "hgvs_c": "c.646_648delGCCinsTCT",
          "hgvs_p": "p.Ala216Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001399728.1",
          "strand": true,
          "transcript": "NM_001412799.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 837,
          "aa_ref": "A",
          "aa_start": 216,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4537,
          "cdna_start": 1396,
          "cds_end": null,
          "cds_length": 2514,
          "cds_start": 646,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 5,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001412800.1",
          "gene_hgnc_id": 18513,
          "gene_symbol": "ZHX2",
          "hgvs_c": "c.646_648delGCCinsTCT",
          "hgvs_p": "p.Ala216Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001399729.1",
          "strand": true,
          "transcript": "NM_001412800.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 837,
          "aa_ref": "A",
          "aa_start": 216,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4425,
          "cdna_start": 1284,
          "cds_end": null,
          "cds_length": 2514,
          "cds_start": 646,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 4,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001412801.1",
          "gene_hgnc_id": 18513,
          "gene_symbol": "ZHX2",
          "hgvs_c": "c.646_648delGCCinsTCT",
          "hgvs_p": "p.Ala216Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001399730.1",
          "strand": true,
          "transcript": "NM_001412801.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 837,
          "aa_ref": "A",
          "aa_start": 216,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4498,
          "cdna_start": 1357,
          "cds_end": null,
          "cds_length": 2514,
          "cds_start": 646,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 4,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001412802.1",
          "gene_hgnc_id": 18513,
          "gene_symbol": "ZHX2",
          "hgvs_c": "c.646_648delGCCinsTCT",
          "hgvs_p": "p.Ala216Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001399731.1",
          "strand": true,
          "transcript": "NM_001412802.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 837,
          "aa_ref": "A",
          "aa_start": 216,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4329,
          "cdna_start": 1188,
          "cds_end": null,
          "cds_length": 2514,
          "cds_start": 646,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 4,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001412803.1",
          "gene_hgnc_id": 18513,
          "gene_symbol": "ZHX2",
          "hgvs_c": "c.646_648delGCCinsTCT",
          "hgvs_p": "p.Ala216Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001399732.1",
          "strand": true,
          "transcript": "NM_001412803.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 837,
          "aa_ref": "A",
          "aa_start": 216,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4150,
          "cdna_start": 1009,
          "cds_end": null,
          "cds_length": 2514,
          "cds_start": 646,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 3,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001412804.1",
          "gene_hgnc_id": 18513,
          "gene_symbol": "ZHX2",
          "hgvs_c": "c.646_648delGCCinsTCT",
          "hgvs_p": "p.Ala216Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001399733.1",
          "strand": true,
          "transcript": "NM_001412804.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 837,
          "aa_ref": "A",
          "aa_start": 216,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4176,
          "cdna_start": 1035,
          "cds_end": null,
          "cds_length": 2514,
          "cds_start": 646,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 4,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001412805.1",
          "gene_hgnc_id": 18513,
          "gene_symbol": "ZHX2",
          "hgvs_c": "c.646_648delGCCinsTCT",
          "hgvs_p": "p.Ala216Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001399734.1",
          "strand": true,
          "transcript": "NM_001412805.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 837,
          "aa_ref": "A",
          "aa_start": 216,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4331,
          "cdna_start": 1190,
          "cds_end": null,
          "cds_length": 2514,
          "cds_start": 646,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 5,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001412806.1",
          "gene_hgnc_id": 18513,
          "gene_symbol": "ZHX2",
          "hgvs_c": "c.646_648delGCCinsTCT",
          "hgvs_p": "p.Ala216Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001399735.1",
          "strand": true,
          "transcript": "NM_001412806.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 837,
          "aa_ref": "A",
          "aa_start": 216,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4634,
          "cdna_start": 1493,
          "cds_end": null,
          "cds_length": 2514,
          "cds_start": 646,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 6,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001412807.1",
          "gene_hgnc_id": 18513,
          "gene_symbol": "ZHX2",
          "hgvs_c": "c.646_648delGCCinsTCT",
          "hgvs_p": "p.Ala216Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001399736.1",
          "strand": true,
          "transcript": "NM_001412807.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 837,
          "aa_ref": "A",
          "aa_start": 216,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 5316,
          "cdna_start": 2175,
          "cds_end": null,
          "cds_length": 2514,
          "cds_start": 646,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 7,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001412808.1",
          "gene_hgnc_id": 18513,
          "gene_symbol": "ZHX2",
          "hgvs_c": "c.646_648delGCCinsTCT",
          "hgvs_p": "p.Ala216Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001399737.1",
          "strand": true,
          "transcript": "NM_001412808.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 837,
          "aa_ref": "A",
          "aa_start": 216,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4479,
          "cdna_start": 1338,
          "cds_end": null,
          "cds_length": 2514,
          "cds_start": 646,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 5,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001412809.1",
          "gene_hgnc_id": 18513,
          "gene_symbol": "ZHX2",
          "hgvs_c": "c.646_648delGCCinsTCT",
          "hgvs_p": "p.Ala216Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001399738.1",
          "strand": true,
          "transcript": "NM_001412809.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 837,
          "aa_ref": "A",
          "aa_start": 216,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4538,
          "cdna_start": 1397,
          "cds_end": null,
          "cds_length": 2514,
          "cds_start": 646,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 6,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001412810.1",
          "gene_hgnc_id": 18513,
          "gene_symbol": "ZHX2",
          "hgvs_c": "c.646_648delGCCinsTCT",
          "hgvs_p": "p.Ala216Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001399739.1",
          "strand": true,
          "transcript": "NM_001412810.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "S",
          "aa_end": null,
          "aa_length": 837,
          "aa_ref": "A",
          "aa_start": 216,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4585,
          "cdna_start": 1444,
          "cds_end": null,
          "cds_length": 2514,
          "cds_start": 646,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 5,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001412811.1",
          "gene_hgnc_id": 18513,
          "gene_symbol": "ZHX2",
          "hgvs_c": "c.646_648delGCCinsTCT",
          "hgvs_p": "p.Ala216Ser",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
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}
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